2019


  1. Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR (2019). Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet Med, 21, 2496-2503.
     
  2. Moller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR (2019). Parental mosaicism in epilepsies due to alleged de novo variants. Epilepsia, 60, e63-e66.
     
  3. Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Buttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quelin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martinez-Cerdeno V, Silverman JL, Crawley JN, S (2019). Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain, 142, 2617-2630.
     
  4. Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowinska-Seidler A, Piotrowicz M, Jakubowski L, Dalleves F, Riesch E, Neidhardt J, Lemke JR (2019). Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Am J Med Genet A, 179, 2447-2453.
     
  5. Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Sticht H, Abou Jamra R (2019). De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain, 142, 3351-3359.
     
  6. Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R (2019). Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genet Med, 21, 1790-1796.
     
  7. Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B (2019). Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenat Diagn, 39, 1136-1147.
     
  8. Popp B, Agaimy A, Kraus C, Knaup KX, Ekici AB, Uebe S, Reis A, Wiesener M, Zweier C (2019). Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. BMC Cancer, 19, 435-.
     
  9. Hebebrand M, Huffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B (2019). The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet J Rare Dis, 14, 38-.
     
  10. Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B (2019). A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. Am J Med Genet A, 179, 50-56.
     
  11. Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R (2019). De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. Am J Hum Genet, 104, 203-212.
     
  12. Rumping L, Buttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R (2019). Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. JAMA Neurol, 76, 342-350.
     
  13. Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR (2019). GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain, 142, 80-92.
     
  14. Pringsheim M, Mitter D, Schroder S, Warthemann R, Plumacher K, Kluger G, Baethmann M, Bast T, Braun S, Buttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Hoft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Riess A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K (2019). Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. Ann Clin Transl Neurol, 6, 655-668.
     
  15. Spataru A, Le Duc D, Zagrean L, Zagrean AM (2019). Ethanol exposed maturing rat cerebellar granule cells show impaired energy metabolism and increased cell death after oxygen-glucose deprivation. Neural Regen Res, 14, 485-490.
     
  16. Lemke JR (2019). Diagnostik genetisch bedingter Epilepsien Med Genet, 31, 303-312.
     
  17. Seitz AT, Sterz H, Strehlow V, Nagel S, Dumann K, Grunewald S, Simon JC, Kunz M (2019). Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. Lasers Surg Med, 51, 321-324.
     
  18. Rockstroh D, Pfaffle H, Le Duc D, Rossler F, Schlensog-Schuster F, Heiker JT, Kratzsch J, Kiess W, Lemke JR, Abou Jamra R, Pfaffle R (2019). A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation. Eur J Endocrinol, 180, 1-13.
     
  19. Paech C, Wagner F, Strehlow V, Gebauer RA (2019). Drug-Induced Loss of Preexcitation in Pediatric Patients with WPW Pattern During Electrophysiologic Study. Pediatr Cardiol, 40, 194-197.
     
  20. Moller RS, Hammer TB, Rubboli G, Lemke JR, Johannesen KM (2019). From next-generation sequencing to targeted treatment of non-acquired epilepsies. Expert Rev Mol Diagn, 19, 217-228.
     
  21. Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H (2019). De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases. Hum Mutat, 40, 2393-2413.
     
  22. Wengert ER, Tronhjem CE, Wagnon JL, Johannesen KM, Petit H, Krey I, Saga AU, Panchal PS, Strohm SM, Lange J, Kamphausen SB, Rubboli G, Lemke JR, Gardella E, Patel MK, Meisler MH, Moller RS (2019). Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy. Epilepsia, 60, 2277-2285.
     
  23. Taylor JL, Debost JPG, Morton SU, Wigdor EM, Heyne HO, Lal D, Howrigan DP, Bloemendal A, Larsen JT, Kosmicki JA, Weiner DJ, Homsy J, Seidman JG, Seidman CE, Agerbo E, McGrath JJ, Mortensen PB, Petersen L, Daly MJ, Robinson EB (2019). Paternal-age-related de novo mutations and risk for five disorders. Nat Commun, 10, 3043-.
     
  24. Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Buttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Eur J Hum Genet, 27, 1061-1071.
     
  25. Ottlewski I, Munch J, Wagner T, Schonauer R, Bachmann A, Weimann A, Hentschel J, Lindner TH, Seehofer D, Bergmann C, Jamra RA, Halbritter J (2019). Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease. Kidney Int, 96, 222-230.
     
  26. Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S (2019). Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet, 105, 869-878.
     
  27. Ballin N, Hotz A, Bourrat E, Kusel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J (2019). Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. Hum Mutat, 40, 2318-2333.
     
  28. Hoff U, Bubalo G, Fechner M, Blum M, Zhu Y, Pohlmann A, Hentschel J, Arakelyan K, Seeliger E, Flemming B, Gurgen D, Rothe M, Niendorf T, Manthati VL, Falck JR, Haase M, Schunck WH, Dragun D (2019). A synthetic epoxyeicosatrienoic acid analogue prevents the initiation of ischemic acute kidney injury. Acta Physiol (Oxf), 227, 13297-.
     
  29. Torring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibaek M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshoj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR (2019). Is MED13L-related intellectual disability a recognizable syndrome? Eur J Med Genet, 62, 129-136.
     
  30. Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djemie T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C (2019). Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia, 60, 689-706.
     
  31. Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schrock E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C (2019). Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC Cancer, 19, 787-.
     
  32. XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y (2019). Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain, 142, 3009-3027.
     
  33. Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk OL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla OL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K (2019). De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. Am J Hum Genet, 105, 213-220.
     
  34. Renner S, Schuler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmuller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med, 21, 1832-1841.
     
  35. Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, Hadjihannas M, Vasileiou G, Thiel CT, Seven D, Uebe S, Ilencikova D, Waanders E, Mavinkurve-Groothuis AMC, Roeleveld N, de Krijger RR, Wegert J, Graf N, Vokuhl C, Agaimy A, Gessler M, Reis A, Kuiper RP, Jongmans MCJ, Metzler M (2019). TRIM28 haploinsufficiency predisposes to Wilms tumor. Int J Cancer, 145, 941-951.
     
  36. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Mart (2019). CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med, 21, 2723-2733.
     
  37. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Curro A, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Heron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet, 104, 1210-1222.
     
  38. Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, (2019). Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet, 104, 815-834.
     
  39. Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Dukic D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Kohle (2019). PEDIA: prioritization of exome data by image analysis. Genet Med, 21, 2807-2814.
     
  40. Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadalo L, Aalfs CM, Agata S, Aittomaki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmana J, Barbieri E, Bartram CR, Blanco A, Blumcke B, Bonache S, Bonanni B, Borg A, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldes T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Dar (2019). Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Hum Mutat, 40, 1557-1578.
     
  41. Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Buttner B, Mefford HC, Muir AM, Scheffer IE, R (2019). Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun, 10, 4679-.
     
  42. Knaup KX, Büttner-Herold M, Popp B, Stoeckert J, Schiffer M, Schueler M, Reis A, Amann K, Ekici AB, Wiesener MS (2019). The Dilemma of Regularly Missed Diagnoses: ADTKD Arch Clin Med, 3, 500-507.
     
  43. Le Duc D, Schöneberg T (2019). Cellular Signalling Systems In: Brüne M, Schiefenhövel W, Oxford Handbook of Evolutionary Medicine (S. 45-76), Oxford: Oxford University Press.
     
  44. Platzer K, Lemke JR (2019). GRIN1-Related Neurodevelopmental Disorder In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, GeneReviews® (S. 1993-2019), Seattle: University of Washington.
     


  45. 2018


  46. Mitter D, Pringsheim M, Kaulisch M, Plumacher KS, Schroder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Buttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Hoft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Riess A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K (2018). FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med, 20(1), 98-108.
     
  47. Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Docker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR (2018). De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. Ann Neurol, 83(6), 1198-1204.
     
  48. Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Moller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet, 50(7), 1048-1053.
     
  49. Platzer K, Cogne B, Hague J, Marcelis CL, Mitter D, Oberndorff K, Park SM, Ploos van Amstel HK, Simonic I, van der Smagt JJ, Stegmann APA, Stevens SJC, Stumpel CTRM, Vincent M, Lemke JR, Jamra R (2018). Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development. Ann Neurol, 84(2), 200-207.
     
  50. Jamra R (2018). Genetics of autosomal recessive intellectual disability. Med Genet, 30(3), 323-327.
     
  51. Horn S, Leonardelli S, Sucker A, Schadendorf D, Griewank KG, Paschen A (2018). Tumor CDKN2A-Associated JAK2 Loss and Susceptibility to Immunotherapy Resistance. J Natl Cancer Inst, 110(6), 677-681.
     
  52. Kortum F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. Eur J Hum Genet, 26(5), 695-708.
     
  53. de Brouwer APM, Abou Jamra R, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S (2018). Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. Am J Hum Genet, 103(6), 1045-1052.
     
  54. Mainz JG, Arnold C, Hentschel J, Tabori H (2018). Effects of Ivacaftor in Three Pediatric Siblings With Cystic Fibrosis Carrying the Mutations G551D And F508del. Arch Bronconeumol, 54(4), 232-234.
     
  55. Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznanski J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Z (2018). The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders. Clin Genet, 94(5), 450-456.
     
  56. Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Sch (2018). Diagnostic value of partial exome sequencing in developmental disorders. PLoS One, 13(8), 0201041-.
     
  57. Lauxmann S, Verbeek NE, Liu Y, Zaichuk M, Muller S, Lemke JR, van Kempen MJA, Lerche H, Hedrich UBS (2018). Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. Hum Mutat, 39(12), 1942-1956.
     
  58. Hayer SN, Krey I, Barro C, Rossler F, Kortvelyessy P, Lemke JR, Kuhle J, Schols L (2018). NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. Neurology, 91(16), 755-757.
     
  59. Jaudszus A, Arnold C, Hentschel J, Hunniger K, Baier M, Mainz JG (2018). Increased cytokines in cystic fibrosis patients' upper airways during a new P. aeruginosa colonization. Pediatr Pulmonol, 53(7), 881-887.
     
  60. Hollink IHIM, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Abou Jamra R, Rolfs A, Bertoli-Avella AM, van de Laar IMBH (2018). Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet, 63(4), 539-.
     
  61. Scheller U, Pfisterer K, Uebe S, Ekici AB, Reis A, Jamra R, Ferrazzi F (2018). Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability. BMC Med Genomics, 11(1), 41-.
     
  62. Kratzsch J, Abou Jamra R, Ziemer M, Simon JC, Treudler R (2018). Smooth velvety hyperextensible skin in a young patient. J Dtsch Dermatol Ges, 16(4), 504-507.
     
  63. Kratzsch J, Abou Jamra R, Ziemer M, Simon JC, Treudler R (2018). Samtig-weiche hyperelastische Haut bei einem jungen Patienten. J Dtsch Dermatol Ges, 16(4), 504-507.
     
  64. Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Buttn (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med, 20(6), 630-638.
     
  65. Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J (2018). Molecular and clinical studies in 8 patients with Temple syndrome. Clin Genet, 93(6), 1179-1188.
     
  66. Haiduk J, Brockstedt LA, Mitter D, Hiemisch A, Merkenschlager A, Simon JC, Kunz M (2018). [Disseminated linear and irregular pigmentation of the skin]. Hautarzt, 69(10), 870-873.
     
  67. Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grunert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Nake A, Lindner M, Heri (2018). Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Ann Neurol, 83(5), 970-979.
     
  68. Griewank KG, Wiesner T, Murali R, Pischler C, Muller H, Koelsche C, Moller I, Franklin C, Cosgarea I, Sucker A, Schadendorf D, Schaller J, Horn S, Brenn T, Mentzel T (2018). Atypical fibroxanthoma and pleomorphic dermal sarcoma harbor frequent NOTCH1/2 and FAT1 mutations and similar DNA copy number alteration profiles. Mod Pathol, 31(3), 418-428.
     
  69. Gayk ZG, Le Duc D, Horn J, Lindsay AR (2018). Genomic insights into natural selection in the common loon (Gavia immer): evidence for aquatic adaptation. BMC Evol Biol, 18(1), 64-.
     
  70. Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S, Sykiotis GP, Chambion C, Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J, Bouloux PM, Geyter C, Paepe A, Dhi (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. Eur J Endocrinol, 178(4), 377-388.
     
  71. Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, Lopez-Rangel E, Houcinat N, Barth M, den Holl (2018). NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol, 84(5), 788-795.
     
  72. Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carre (2018). HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain, 141(11), 3160-3178.
     
  73. Hauke J, Horvath J, Gross E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Er (2018). Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med, 7(4), 1349-1358.
     
  74. Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakcalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahed (2018). Biallelic loss of human CTNNA2, encoding ?N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet, 50(8), 1093-1101.
     
  75. Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gross E, Blumcke B, Gehrig A, Kahlert AK, Muller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmuller J, N (2018). BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res, 20(1), 7-.
     
  76. Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, va (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat, 39(5), 593-620.
     
  77. Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J, Barsh GS, Weckhu (2018). Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. Am J Hum Genet, 103(6), 1022-1029.
     
  78. Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner (2018). De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain, 3, 698-712.
     
  79. Krause-Kyora B, Susat J, Key FM, Kuhnert D, Bosse E, Immel A, Rinne C, Kornell SC, Yepes D, Franzenburg S, Heyne HO, Meier T, Losch S, Meller H, Friederich S, Nicklisch N, Alt KW, Schreiber S, Tholey (2018). Neolithic and medieval virus genomes reveal complex evolution of hepatitis B. Elife, 7, 1-15.
     


  80. 2017


  81. Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Janse (2017). GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet, 54(7), 460-470.
     
  82. Lemke JR (2017). Commentary: GATOR Complex-Associated Epilepsies. Epilepsia, 58(1), 1121-1122.
     
  83. Lemke JR (2017). High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders. JAMA Pediatr, 171(9), 833-835.
     
  84. Helbig KL, Hedrich UB, Scheffer IE, Helbig I, Lerche H, Lemke JR (2017). Reply. Ann Neurol, 81(2), 328-329.
     
  85. Syrbe S, Harms FL, Parrini E, Montomoli M, Mutze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lammer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Moller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR*, Kutsche K*, Guerrini (2017). Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain, 140(9), 2322-2336.
     
  86. Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Koster J, Marais A, Paknia O, Schroder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R (2017). Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet, 25(2), 176-182.
     
  87. Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R (2017). Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry, 74(3), 293-299.
     
  88. Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R (2017). Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet, 100(3), 555-561.
     
  89. Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R (2017). De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. Am J Hum Genet, 101(6), 1013-1020.
     
  90. Le Duc D, Schulz A, Lede V, Schulze A, Thor D, Bruser A, Schoneberg T (2017). P2Y Receptors in Immune Response and Inflammation. Adv Immunol, 136, 85-121.
     
  91. Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D*, Kornak U* (2017). Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Am J Med Genet A, 173(9), 2534-2538.
     
  92. Mutze U, Burger F, Hoffmann J, Tegetmeyer H, Heichel J, Nickel P, Lemke JR, Syrbe S, Beblo S (2017). Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings. Mol Genet Metab Rep, 10, 1-4.
     
  93. Klotz KA, Lemke JR, Korinthenberg R, Jacobs J (2017). Vitamin B6-Responsive Epilepsy due to a Novel KCNQ2 Mutation. Neuropediatrics, 48(3), 199-204.
     
  94. Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G (2017). Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet, 25(3), 376-380.
     
  95. Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, Kuchler A, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Ludecke HJ, Wieczorek D (2017). Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet, 25(7), 889-893.
     
  96. Windholz J, Kovacs P, Schlicke M, Franke C, Mahajan A, Morris AP, Lemke JR, Klammt J, Kiess W, Schoneberg T, Pfaffle R, Korner A (2017). Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children. J Pediatr Endocrinol Metab, 30(5), 507-515.
     
  97. Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A (2017). A comprehensive global genotype-phenotype database for rare diseases. Mol Genet Genomic Med, 5(1), 66-75.
     
  98. Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brow (2017). PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet, 25(5), 552-559.
     
  99. Dias A, Al-Kali A, Van Dyke D, Niederwieser D, Vucinic V, Lemke J, Muller C, Schwind S, Teichmann AC, Bakken R, Burns LJ, Litzow M (2017). Inversion 3 Cytogenetic Abnormality in an Allogeneic Hematopoietic Cell Transplant Recipient Representative of a Donor-Derived Constitutional Abnormality. Biol Blood Marrow Transplant, 23(9), 1582-1587.
     
  100. Hauer NN, Sticht H, Boppudi S, Buttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dorr HG, Thiel CT (2017). Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep, 7(1), 12225.
     
  101. Terliesner N, Vogel M, Steighardt A, Gausche R, Henn C, Hentschel J, Kapellen T, Klamt S, Gebhardt J, Kiess W, Prenzel F (2017). Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function. J Pediatr Endocrinol Metab, 30(8), 815-821.
     
  102. Moller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jac (2017). Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology, 88(5), 483-492.
     
  103. Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogne B, Kury S, Besnard T, Isidor B, Bezieau S, Hazart I, ... Lemke JR et al. (2017). Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet, 100(4), 676-688.
     
  104. de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajag (2017). Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol, 74(10), 1228-1236.
     
  105. Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Muller-Hofstede C, Charbel Issa P, Heller R, Beck B, Ruther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, H (2017). Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol Genet Genomic Med, 5(5), 531-552.
     
  106. Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gerard M, Perrin (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 140(5), 1316-1336.
     
  107. Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, et al. (2017). Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain, 140(9), 2337-2354.
     
  108. Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC Jr, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E etal. (2017). Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet, 49(5), 680-691.
     
  109. Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee A, Amin Al Olama A, Tyrer JP, Southey M, John EM, (2017). Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. J Clin Oncol, 35(20), 2240-2250.
     
  110. EuroEPINOMICS-RES Consortium (2017). De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Erratum. Am J Hum Genet, 100(1), 179.
     
  111. Epi4K Consortium, EuroEPINOMICS-RES Consortium (2017). Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet, 25(7), 894-899.
     
  112. Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sannaa N, Rolfs A, Kulik A et al. (2017). AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability. Nat Commun, 8, 15910.
     


  113. 2016


  114. Neubauer BA, Lemke JR (2016). From Genetics to Genomics: A Short Introduction for Pediatric Neurologists. Neuropediatrics, 47(1), 5-11.
     
  115. Schwerd T, Khaled AV, Schurmann M, Chen H, Handel N, Reis A, Gillessen-Kaesbach G, Uhlig HH, Abou Jamra R (2016). A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome. Eur J Hum Genet, 24(6), 889-894.
     
  116. Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Moller RS, Hjalgrim H, Lal D, Neubauer BA, Nurnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Stromme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sa J, Mendonca C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirl (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology, 86(23), 2171-2178.
     
  117. Johannesen K, Marini C, Pfeffer S, Moller RS, Dorn T, Niturad C, Gardella E, Weber Y, Sondergard M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djemie T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljev (2016). Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology, 87(11), 1140-1151.
     
  118. Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpaa L, Karle KN, Synofzik M, Schols L, Schule R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR (2016). A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Ann Neurol, 80(4), doi: 10.1002/ana.247.
     
  119. Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stulpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hortnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ (2016). GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet, 99(4), 802-816.
     
  120. Dorn T, Lemke JR (2016). Towards a Molecular Syndromology of the Epilepsies. Mol Syndromol, 7(4), 169-171.
     
  121. Strehlow V, Swinkels ME, Thomas RH, Rapps N, Syrbe S, Dorn T, Lemke JR (2016). Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome. Mol Syndromol, 7(4), 239-246.
     
  122. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R (2016). Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet, 99(4), 912-916.
     
  123. Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, Reis A, Santani A, Sticht H, Abou Jamra R (2016). SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Orphanet J Rare Dis, 11(1), 130.
     
  124. Heinemann ML, Hentschel J, Becker S, Prenzel F, Henn C, Kiess W, Tabori H, Lemke J, Ceglarek U, Thiery J (2016). Einführung des deutschlandweiten Neugeborenenscreenings für Mukoviszidose. J Lab Med, 40(6), 373-384.
     
  125. Hentschel J, Tatun D, Parkhomchuk D, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Peters H, Beetz C (2016). Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. Gene, 590(1), 1-4.
     
  126. Passarge E, Robinson PN, Graul-Neumann LM (2016). Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet, 24(9), 1244-1247.
     
  127. Passarge E (2016). James L. German, a pioneer in early human genetic research turned 90. Am J Med Genet A, 170(6), 1564-1565.
     
  128. Heinrich-Weltzin R, Baum S, Bertzbach S, Erlecke J, Hentschel J (2016). Amelogenesis imperfecta ? Eine Genotyp-Phänotyp-Studie. Oralprophylaxe & Kinderzahnheilkunde , 38, 1-8.
     
  129. Hollink IH, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Jamra RA, Rolfs A, Bertoli-Avella AM, van de Laar IM (2016). Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet, 61(3), 229-233.
     
  130. Miehle K, Porrmann J, Mitter D, Stumvoll M, Glaser C, Fasshauer M, Hoffmann K (2016). Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. Clin Endocrinol (Oxf), 84(1), 141-148.
     
  131. Luther M, Grunauer-Kloevekorn C, Weidle E, Passarge E, Rupprecht A, Hoffmann K, Foja S (2016). [TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy]. Klin Monbl Augenheilkd, 233(2), 187-194.
     
  132. Gardella E, Becker F, Moller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmuller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nurnberg P, Mang Y, Bakke Moller L, Gell (2016). Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol, 79(3), 428-436.
     
  133. Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N (2016). Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? Am J Med Genet A, 170(A1), 94-102.
     
  134. Gardella E, Beniczky S, Moller RS, Becker F, Lemke JR, Syrbe S, Eiberg H, Bast T, Steinhoff B, Nurnberg P, Gellert P, Dahl HA, Weckhuysen S, Heron SE, Dibbens LM, Hjalgrim H, Lerche H, Weber YG (2016). Reply: PKD_Not always nomina sunt consequentia rerum Ann Neurol, 80(1), 168-169.
     
  135. de Kovel CG, Brilstra EH, van Kempen MJ, Van t Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djemie T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, et al (2016). Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med, 4(5), 568-580.
     
  136. Syrbe S, Zhorov BS, Bertsche A, Bernhard MK, Hornemann F, Mutze U, Hoffmann J, Hortnagel K, Kiess W, Hirsch FW, Lemke JR, Merkenschlager A (2016). Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A. Mol Syndromol, 7(4), 182-188.
     
  137. Maljevic S, Vejzovic S, Bernhard MK, Bertsche A, Weise S, Docker M, Lerche H, Lemke JR, Merkenschlager A, Syrbe S (2016). Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. Mol Syndromol, 7(4), 189-196.
     
  138. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG (2016). Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet, 99(1), 228-235.
     
  139. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG (2016). Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet, 99(3), 785.
     
  140. Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Caglayan AO, Vajsar J, Bilguvar K, Ogur G, Abou Jamra (2016). Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet, 99(5), 1181-1189.
     
  141. Mainz JG, Schumacher U, Schadlich K, Hentschel J, Koitschev C, Koitschev A, Riethmuller J, Prenzel F, Sommerburg O, Wiedemann B, Staab D, Gleiber W, Fischer R, Beck JF, Arnold C (2016). Sino nasal inhalation of isotonic versus hypertonic saline (6.0%) in CF patients with chronic rhinosinusitis - Results of a multicenter, prospective, randomized, double-blind, controlled trial. J Cyst Fibros, 15(6), 57-66.
     
  142. Janhsen WK, Arnold C, Hentschel J, Lehmann T, Pfister W, Baier M, Boer K, Hunniger K, Kurzai O, Hipler UC, Mainz JG (2016). Colonization of CF patients upper airways with S. aureus contributes more decisively to upper airway inflammation than P. aeruginosa. Med Microbiol Immunol, 205(5), 485-500.
     
  143. Heinrich-Weltzin R, Hentschel J, Kühnisch J (2016). Dentinogenesis imperfecta? Ätiologie, Diagnostik und Therapie. Quintessenz, 67(1), 9-23.
     
  144. Wannenmacher B, Mitter D, Kiessling F, Liehr T, Weise A, Siekmeyer M, Kiess W (2016). A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings. J Pediatr Endocrinol Metab, 29(5), 611-616.
     
  145. Oberstadt M, Mitter D, Classen J, Baum P (2016). Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene. J Peripher Nerv Syst, 21(2), 111-113.
     
  146. Kratzsch J, Mitter D, Ziemer M, Kohlhase J, Voth H (2016). Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome. JAMA Dermatol, 152(7), 844-845.
     
  147. Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Luttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martin (2016). Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med, 18(12), 1226-1234.
     
  148. Muller B, Wilcke A, Boulesteix AL, Brauer J, Passarge E, Boltze J, Kirsten H (2016). Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives. Hum Genet, 135(3), 259-272.
     
  149. Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destree A, Dil (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), 954-962.
     
  150. Mignot C, von Stulpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybala M, Yis U, Caglayan H, Is (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet, 53(8), 511-522.
     
  151. Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinbock H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A, G (2016). Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One, 11(3), e0150426.
     
  152. Djemie T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-Lopez R, Guerrini R, Ham (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. Mol Genet Genomic Med, 4(4), 457-464.
     
  153. Balestrini S, Milh M, Castiglioni C, Luthy K, Finelli MJ, Verstreken P, Cardon A, Strazisar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brock (2016). TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology, 87(1), 77-85.
     
  154. Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S (2016). Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents. Cell Metab, 24(2), 234-245.
     


  155. 2015


  156. Hentschel J, Fischer N, Janhsen WK, Markert UR, Lehmann T, Sonnemann J, Boer K, Pfister W, Hipler UC, Mainz JG (2015). Protease-antiprotease imbalances differ between Cystic Fibrosis patients upper and lower airway secretions. J Cyst Fibros, 14(3), 324-333.
     
  157. Syrbe S, Hedrich UB, Riesch E, Djemie T, Muller S, Moller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Loffler H, Detert K, Dorn T, Vogt H, Kramer G, Schols L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W, Gonzalez M, Zuchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, ..., Lemke JR (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet, 47(4), 393-399.
     
  158. Lemke JR, Syrbe S (2015). Epileptic Encephalopathies in Childhood: The Role of Genetic Testing. Semin Neurol, 35(3), 310-322.
     
  159. Lal D, Steinbrucker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nurnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Luscher N, von Spiczak S, Lemke JR (2015). Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res, 115, 95-99.
     
  160. Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, Sticht H, Pohl KJ, Cui Y, Reis A, Morrison H, Abou Jamra R (2015). Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability. Hum Mutat, 36(2), 270-278.
     
  161. Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, Vasli N, Rafiq MA, Brohi MQ, Mikhailov A, Ayaz M, Bhatti A, Sticht H, Nasr T, Carter MT, Uebe S, Reis A, Ayub M, John P, Kiledjian M, Vincent JB, Jamra RA (2015). Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet, 24(11), 3172-3180.
     
  162. Tawamie H, Wohlleber E, Uebe S, Schmal C, Nothen MM, Abou Jamra R (2015). Recurrent null mutation in SPG20 leads to Troyer syndrome. Mol Cell Probes, 29(5), 315-318.
     
  163. Stephen LA, Tawamie H, Davis GM, Tebbe L, Nurnberg P, Nurnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ (2015). TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). eLife, 10.7554, 08077.
     
  164. Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Kury S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Galvez-Peralta M, Majewski J, Ramaekers VT, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R (2015). Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. Am J Hum Genet, 97(6), 886-893.
     
  165. Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T (2015). Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur J Hum Genet, 23(2), 180-188.
     
  166. Hardies K, May P, Djemie T, Tarta-Arsene O, Deconinck T, Craiu D, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J (2015). Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet, 24(8), 2218-2227.
     
  167. Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou (2015). Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet, 96(5), 808-815.
     
  168. Sonnemann J, Grauel D, Blumel L, Hentschel J, Marx C, Blumrich A, Focke K, Becker S, Wittig S, Schinkel S, Kramer OH, Beck JF (2015). RETRA exerts anticancer activity in Ewings sarcoma cells independent of their TP53 status. Eur J Cancer, 51(7), 841-851.
     
  169. Muller U, Hentschel J, Janhsen WK, Hunniger K, Hipler UC, Sonnemann J, Pfister W, Boer K, Lehmann T, Mainz JG (2015). Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients Upper and Lower Airways after IV-Antibiotic Therapy. Mediators Inflamm, 2015, 626530.
     
  170. Doht F, Hentschel J, Fischer N, Lehmann T, Markert UR, Boer K, Pfister W, Pletz MW, Guntinas-Lichius O, Mainz JG (2015). Reduced effect of intravenous antibiotic treatment on sinonasal markers in pulmonary inflammation. Rhinology, 53(3), 249-259.
     
  171. Graeber SY, Hug MJ, Sommerburg O, Hirtz S, Hentschel J, Heinzmann A, Dopfer C, Schulz A, Mainz JG, Tummler B, Mall MA (2015). Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor. Am J Respir Crit Care Med, 192(10), 1252-1255.
     
  172. Sukalo M, Tilsen F, Kayserili H, Muller D, Tuysuz B, Ruddy DM, Wakeling E, Orstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M (2015). DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Hum Mutat, 36(11), 1112.
     
  173. Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U (2015). Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance? Am J Med Genet A, 167(A), 553-562.
     
  174. Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, (2015). Galanin pathogenic mutations in temporal lobe epilepsy. Hum Mol Genet, 24(11), 3082-3091.
     
  175. Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostasy M, Kramer M, Kaltenbach S, Rosler B, Georg I, Troppmann E, Tei (2015). Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. J Med Genet, 52(4), 240-247.
     
  176. Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jahn JA, Jepsen B, Gill D, Docker M, Biskup S, McMah (2015). The phenotypic spectrum of SCN8A encephalopathy. Neurology, 84(5), 480-489.
     
  177. Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinri (2015). Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet, 47(7), 803-808.
     
  178. Lau M, Platzer K, Tüshans L, Kohl M, Stichtenoth G (2015). Verzögerte Diagnose eines akuten Abdomens - Fünfzehn Tage bis zur Diagnosestellung. Monatschrift Kinderheilkunde , 163(9), 872-876.
     
  179. Lemke JR (2015). From conventional genetic Analysis to next Generation sequencing in diagnostics of epilepsies. In: Moshé, Seizures and Syndromes of onset in the Two First Life. (S. 95-104), Montrouge: John Libbey .
     
  180. Lemke JR (2015). Humangenetik. In: Schöni, Berner Datenhandbuch Pädiatrie. (S. 185-202), Bern: Hans Huber Verlag.
     


  181. 2014


  182. Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S (2014). GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol, 75(1), 147-154.
     
  183. Lemke JR, Kernland-Lang K, Hortnagel K, Itin P (2014). Monogenic human skin disorders. Dermatology, 229(2), 55-64.
     
  184. Hentschel J, Muller U, Doht F, Fischer N, Boer K, Sonnemann J, Hipler C, Hunniger K, Kurzai O, Markert UR, Mainz JG (2014). Influences of nasal lavage collection-, processing- and storage methods on inflammatory markers--evaluation of a method for non-invasive sampling of epithelial lining fluid in cystic fibrosis and other respiratory diseases. J Immunol Methods, 404, 41-51.
     
  185. Hentschel J, Jager M, Beiersdorf N, Fischer N, Doht F, Michl RK, Lehmann T, Markert UR, Boer K, Keller PM, Pletz MW, Mainz JG (2014). Dynamics of soluble and cellular inflammatory markers in nasal lavage obtained from cystic fibrosis patients during intravenous antibiotic treatment. BMC Pulm Med, 14, 82.
     
  186. Platzer K, Huning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ (2014). Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am J Med Genet A, 164A(8), 1976-1980.
     
  187. Pietzner V, Weigel JF, Wand D, Merkenschlager A, Bernhard MK (2014). Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature. J Pediatr Endocrinol Metab, 27(1-2), 165-170.
     
  188. Ezgu F, Krejci P, Li S, de Sousa C, Graham J Jr, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox W (2014). Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. Clin Genet, 86(1), 74-84.
     
  189. Appenzeller S, Balling R, Barisic N, Baulac S, Caglayan H, Craiu D, De Jonghe P, Depienne C, Dimova P, Djémié T, Gormley P, Guerrini R, Helbig I, Hjalgrim H, Hoffman-Zacharska D, Jähn J, Klein KM, Koe (2014). De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet, 95(4), 360-370.
     
  190. Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Baumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, ...Thiele H, Lemke JR, et al. (2014). DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol, 75(5), 788-792.
     
  191. Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cances C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, (2014). De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet, 46(6), 640-645.
     
  192. Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Ruschendorf F, et al. (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet, 46(12), 1327-1332.
     
  193. Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, et al. (2014). Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. Am J Hum Genet, 95(6), 698-707.
     
  194. Fischer N, Hentschel J, Markert UR, Keller PM, Pletz MW, Mainz JG (2014). Non-invasive assessment of upper and lower airway infection and inflammation in CF patients. Pediatr Pulmonol, 49(11), 1065-1075.
     
  195. Schilling S, Gebauer C, Knüpfer M, Pulzer F, Bläser A, Mitter D, Heinritz W, Pernice W, Hirsch FW, Thome U (2014). Frühgeborenes mit auffälligem Phänotyp. Kinder- und Jugendmedizin hautnah, 29, 106-108.
     


  196. 2013


  197. Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D (2013). A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. Eur J Hum Genet, 21(8), 887-90.
     
  198. Starke S, Meinke P, Camozzi D, Mattioli E, Pfaeffle R, Siekmeyer M, Hirsch W, Horn LC, Paasch U, Mitter D, Lattanzi G, Wehnert M, Kiess W (2013). Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. Aging (Albany NY), 5(6), 445-459.
     
  199. Fischer C, Kuchenbacker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flottmann R, Horvath J, Schrock E, Stock F, Schafer D, Schwaab I, Karts (2013). Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. J Med Genet, 50(6), 360-367.
     
  200. Dreifuss M (2013). [A case from practice (177). Acute hepatitis B]. Schweiz Rundsch Med Prax, 79(20), 643-644.
     
  201. Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Haussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik (2013). SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain, 136(Pt12), 3634-3644.
     
  202. Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Muller D, Becker K, Casper R, Nurnberg G, Altmuller J, Nurnberg P, Traupe H, Futerman AH, Hennies HC (2013). Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol, 133(9), 2202-2211.
     
  203. Passarge E (2013). Color Atlas of Genetics. In: PassargeE, Color Atlas of Genetics. (S. 1-496), Stuttgart - New York: Thieme Verlag .
     
  204. Passarge E, Mitter D (2013). Jahrbuch der Deutschen Gesellschaft für Muskelkranke e.V. In: Dengler R, Neundörfer B, Ganter H, Jahrbuch der Deutschen Gesellschaft für Muskelkranke e. V.2012 (S. 68-69), Ettlingen: AWS Medienverlag GmbH.
     


  205. 2012


  206. Mitter D, Schanze D, Sterker I, Muller D, Till H, Zenker M (2012). MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features. Mol Syndromol, 3(3), 136-139.
     
  207. Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke T, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schafer D, Stock F, Voigtlander T (2012). BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet, 82(5) , 478-483.
     
  208. Ghani-Kakhki M, Robinson PN, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H (2012). Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. Mol Syndromol, 3(1), 6-13.
     
  209. Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Pas (2012). Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep, 1(6), 648-655.
     
  210. Passarge E (2012). Color Atlas of Genetics In: PassargeE, Color Atlas of Genetics. (S. 1-496), Stuttgart - New York: Thieme Verlag .
     


  211. 2011


  212. Mitter D, Ullmann R, Muradyan A, Klein-Hitpass L, Kanber D, Ounap K, Kaulisch M, Lohmann D (2011). Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet, 19(9), 947-958.
     
  213. Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, ... Heinritz W et al (2011). Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res, 13(6), R110.
     
  214. Passarge E (2011). Darwin und die Medizin. In: Ingensiep HW, Dittrich S, Darwin, die Evolution und die Wissenschaften. (S. 55-74), Essen: Oldib Verlag .
     
  215. Passarge E, Mitter D (2011). Neuromuskuläres Zentrum - Institut für Humangenetik In: Dengler R, Neundörfer B, Ganter H, Jahrbuch der Deutschen Gesellschaft für Muskelkranke e.V. (S. 1-2), Leichlingen : Patient und Gesundheit e.K..
     


  216. 2010


  217. Mitter D, Chiaie BD, Ludecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D (2010). Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A, 152(5), 1213-1224.
     
  218. Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E (2010). Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A, 152(11), 2749-2755.
     
  219. Passarge E, Mitter D (2010). Neuromuskuläres Zentrum - Institut für Humangenetik. In: Dengler R, Neundörfer B, Ganter H, Jahrbuch der Deutschen Gesellschaft für Muskelkranke e.V. 2010 (S. 59-60), Leichlingen: Verlag Patient und Gesundheit e.K..
     


  220. 2009


  221. Ehrhardt N, Kujat A, Faber R, Horn LC, Froster UG (2009). Potential errors with rapid analysis techniques: partial duplication 21q resulting from a paternal paracentric insertion uncovered in chorionic villus sampling by fluorescence in situ hybridization. Fetal Diagn Ther, 26(4), 219-222.
     
  222. Skrzypczak-Zielinska M, Sulek-Piatkowska A, Mierzejewski M, Froster UG (2009). New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. Genet Test Mol Biomarkers, 13(5), 651-655.
     
  223. Heinritz W, Huffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG (2009). New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. Ann Hum Genet, 73(Pt3), 283-291.
     
  224. Briest S, Winkelmann C, Meyer A, Froster UG (2009). Brustkrebs. Patientenbroschüre. Sächsische Krebsgesellschaft, 10, 1-62.
     
  225. Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Volcker HE, Schulze DP, Heinritz W, Reinhardt T, Froster UG, Duncker GI, Schorderet D, Auw-Haedrich C (2009). TGFBI (BIGH3) gene mutations in German families- two novel mutations associated with unique clinical and histopathological findings. Br J Ophthalmol, 93(7), 932-937.
     
  226. Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, ....Froster UG, Chenevix-Trench G, Easton DF (2009). No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Res Treat, 115(1), 185-192.
     
  227. Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S, Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, V (2009). Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer, 101(12), 2048-2054.
     
  228. Graeser MK, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster UG, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzl (2009). Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol, 27(35), 5887-5892.
     
  229. Sinilnikova OM, Antoniou AC, Simard J, Healey S, Leone M, Sinnett D, Spurdle AB, Beesley J, Chen X, Greene MH, Loud JT, Lejbkowicz F, Rennert G, Dishon S, Andrulis IL, Domchek SM, Nathanson KL, Manouk (2009). The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Br J Cancer, 101(8), 1456-1460.
     
  230. Gruenauer-Kloevekorn C, Braeutigam S, Froster UG, Duncker GI (2009). Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings. Graefes Arch Clin Exp Ophthalmol, 247(1), 93-99.
     


  231. 2008


  232. Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon JC, Froster UG, Renner R (2008). Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). Ann Hum Genet, 72(Pt1), 35-40.
     
  233. Strenge S, Froster UG, Kujat A, Bernhard M, Merkenschlager A (2008). [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis] Klin Padiatr, 220(5), 318-320.
     
  234. Bohm J, Heinritz W, Craig A, Vujic M, Ekman-Joelsson BM, Kohlhase J, Froster U (2008). Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet, 9, 88.
     
  235. Scheid R, Heinritz W, Leyhe T, Thal DR, Schober R, Strenge S, von Cramon DY, Froster UG (2008). Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology, 71(10), 774-776.
     
  236. Renner R, Paasch U, Simon JC, Froster UG, Heinritz W (2008). A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. J Eur Acad Dermatol Venereol, 22(6), 750-751.
     
  237. Heinritz W, Strenge S, Kujat A, Höckel M, Froster UG (2008). Different Phenotypes Including Gynecological Cancer in Three Female Patients with Peutz-Jeghers Syndrome and Mutations in the STK11 Gene Onkologie, 31(11), 625-628.
     
  238. Kujat A, Bernhard MK, Hirsch W, Merkenschlager A, Froster UG (2008). Tetrasomie 18p - 2-jähriges Mädchen mit einer psychomotorischen Entwicklungsretardierung, Spastik der unteren Extremitäten und kleineren Dysmorphiezeichen Monatsschr Kinderheilkd, 156(2), 162-165.
     
  239. Gruenauer-Kloevekorn C, Braeutigam S, Heinritz W, Froster UG, Duncker GI (2008). Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. Graefes Arch Clin Exp Ophthalmol, 246(10), 1441-1447.
     


  240. 2007


  241. Kujat A, Veith VP, Faber R, Froster UG (2007). Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with waardenburg syndrome type I. Fetal Diagn Ther, 22(2), 155-158.
     
  242. Heinritz W, Heinritz S, Froster UG (2007). Beckwith-Wiedemann-Syndrom: Erhöhtes Tumorrisiko verlangt Vorsorge. pädiatrie hautnah, 1, 45-47.
     
  243. Strenge S, Heinritz W, Zweier C, Rauch A, Rolle U, Merkenschlager A, Froster UG (2007). Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. Am J Med Genet A, 143(13), 1528-1530.
     
  244. Froster UG, Skrzypczak M (2007). Das Fragile-X-Syndrom. Pädiatr Praxis, 70, 481-490.
     
  245. Kujat A, Strenge S, Froster UG (2007). Genetische Beratung bei Entwicklungstörungen von Kindern. Kinder- und Jugendmedizin, 7(4), 183-187.
     
  246. Strenge S, Froster UG, Berhard MK, Kujat A, Merkenschlager A (2007). CME: Häufige Mikrodeletionssyndrome. Kinder- und Jugendmedizin, 7(4), 189-196.
     
  247. Froster UG (2007). Das Fragile-X-Syndrom. Kinder- und Jugendmedizin, 7(4), 199-202.
     
  248. Froster UG (2007). Editorial: Die Bedeutung der Humangenetik in der Pädiatrie Kinder- und Jugendmedizin, 7(4), 179.
     
  249. Bernhard MK, Kantzer AK, Kujat A, Merkenschlager A (2007). 22q11.2 microdeletion with atypical absences, dysmorphia and scoliosis. Monatsschr Kinderheilkd, 155(Suppl 1), S62-S64.
     
  250. Syrbe S, Eberle K, Strenge S, Bernhard MK, Herbertz S, Bierbach U, Hirsch W, Froster UG, Kiess W, Merkenschlager A (2007). [Neurofibromatosis type 1 and associated clinical abnormalities in 27 children] Klin Padiatr, 219(6), 326-332.
     
  251. Wegner F, Strecker K, Schwarz J, Wagner A, Heinritz W, Sommerer F, Thal DR, Schneider JP, Kendziorra K, Sabri O (2007). Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system. J Neurol, 254(12), 1743-1745.
     
  252. Froster UG, Strenge S (2007). Neuromuskuläres Zentrum Leipzig - Institut für Humangenetik. In: Dengler R, Neundörfer B, Fischer W, Jahrbuch der Neuromuskulären Erkrankungen 2006. (S. 61-62), München: Arcis Verlag.
     
  253. Froster UG, Matzen P (2007). Angeborene Anomalien. In: Matzen P, Kinderorthopädie. (S. 321-386), München . Jena: Urban u. Fischer.
     


  254. 2006


  255. Kujat A, Veith VP, Faber R, Froster UG (2006). Prenatal Diagnosis and Genetic Counseling in a Case of Spina Bifida in a Family with Waardenburg Syndrome Type I. Fetal Diagn Ther, 22(2), 155-158.
     
  256. Strenge S, Kujat A, Zelante L, Froster UG (2006). A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. Am J Med Genet A, 140(24), 2838-2839.
     
  257. Falk M, Vojtiskova M, Lukas Z, Kroupova I, Froster U (2006). Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntingtons disease loci. Genet Test, 10(2), 85-97.
     
  258. Luleyap HU, Alptekin D, Pazarbasi A, Kasap M, Kasap H, Demirhindi H, Mungan N, Ozer G, Froster UG (2006). The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene. Mutat Res, 601, 39-45.
     
  259. Kujat A, Schulz MD, Strenge S, Froster UG (2006). Renal malformations in deletion 22q11.2 patients. Am J Med Genet A, 140(14), 1601-1602.
     
  260. Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V (2006). A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet A, 140(11), 1223-1227.
     
  261. Heinritz W, Grunewald S, Strenge S, Schutz A, Froster UG, Glander HJ, Paasch U, Simon JC (2006). A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. Br J Dermatol, 154(5), 992-994.
     
  262. Heinritz W, Froster UG (2006). Von-Hippel-Lindau-Syndrom. Mitteilungsblatt Sächsische Krebsgesellschaft e.V., 4, 19-21.
     
  263. Ucar C, Calyskan U, Martini S, Heinritz W (2006). Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). J Pediatr Hematol Oncol, 28(3), 123-125.
     
  264. Gerber M, Froster UG (2006). Sachsen in der Versorgung von Brustkrebshochrisikofamilien beispiellos in den neuen Ländern. Mitteilungsblatt Sächsische Krebsgesellschaft e.V., 1, 6-7.
     
  265. Skrzypczak M, Podralska M, Heinritz W, Froster UG, Lipinski D, Slomski R, Plawski A (2006). MHY Gene Status in Polish FAP Patients without APC Gene Mutations. Hereditary Cancer in Clinical Practice, 4, 43-47.
     
  266. Skrzypczak M, Heinritz W, Froster UG (2006). Bedeutung von Mutationen im MYH-Gen bei Familiärer Adenomatöser Polyposis coli (FAP). Mitteilungsblatt Sächsische Krebsgesellschaft e.V., 1, 16-21.
     
  267. Strenge S, Froster UG (2006). Neuromuskuläres Zentrum Leipzig - Institut für Humangenetik. Jahrbuch der neuromuskulären Erkrankungen , , 61-62.
     
  268. Grunauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Volcker HE, Heinritz W, Froster U, Duncker G (2006). [Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy] Klin Monatsbl Augenheilkd, 223(10), 829-836.
     
  269. Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J (2006). Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat, 27(9), 975-976.
     
  270. Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Muller M, Dotsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Trobs RB (2006). Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? Am J Med Genet A, 140(20), 2251-2253.
     
  271. Bernhard MK, Herbertz S, Strenge S, Syrbe S, Merkenschlager A (2006). Rezidivierende Muskellähmungen: HNPP als wichtige Differentialdiagnose. Kinder- und Jugendmedizin, 6(6), 369-370.
     
  272. Herbertz S, Berhardt MK, Heinritz W, Müller C, Syrbe S, Merkenschlager A (2006). Zehenspitzengang und Gangunsicherheit als Manifestation einer hereditären sensomotorischen Neuropathie Typ 1A. Kinder- und Jugendmedizin, 6(6), 371-372.
     
  273. Froster UG, Strenge S (2006). Neuromuskuläres Zentrum Leipzig - Institut für Humangenetik. In: Pongratz D, Dengler R, Neundörfer B, Fischer W, Jahrbuch der Neuromuskulären Erkrankungen 2005. (S. 59), München: Arcis Verlag.
     


  274. 2005


  275. Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG (2005). Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome. Am J Med Genet A, 132(2), 198-201.
     
  276. Gruenauer-Kloevekorn C, Reichel MB, Duncker GI, Froster UG (2005). Molecular genetic and ocular findings in patients with holt-oram syndrome. Ophthalmic Genet, 26(1), 1-8.
     
  277. Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG (2005). Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. Heart, 91(3), 383-384.
     
  278. Heinritz W, Pretzsch M, Koall S, Matzen PF, Froster UG (2005). [Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family] Orthopade, 34(5), 470-476.
     
  279. Kujat A, Froster UG (2005). Molekularzytogenetische Untersuchungen mittels Spectral Karyotyping BIOforum, 28(6), 38-39.
     
  280. Kujat A, Faber R, Froster UG (2005). Klinik und Diagnostik des Waardenburg-Syndroms Typ 1. pädiatrie hautnah, 3, 148-150.
     
  281. Froster UG (2005). Vor dem Test kommt die Beratung (In: Brustkrebs, was jede Frau darüber wissen sollte) Deutsche Krebsgesellschaft e.V. / Brigitte, 1, 13.
     
  282. Heinritz W, Shou L, Moschik A, Froster UG (2005). The human TBX5 gene mutation database. Hum Mutat, 26(4), 1-4 (397).
     
  283. Froster UG (2005). Editorial: Mut zur frühen Abklärung pädiatrie hautnah, 4, 169.
     
  284. Fischer S, Drenckhahn C, Wolf C, Eschrich K, Kellermann S, Froster UG, Schober R (2005). Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. Clin Neuropathol, 24(2), 77-85.
     
  285. Teich N, Nemoda Z, Kohler H, Heinritz W, Mossner J, Keim V, Sahin-Toth M (2005). Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. Hum Mutat, 25(4), 343-347.
     
  286. Hoepffner W, Horn LC, Simon E, Sauerbrei G, Schroder H, Thamm-Mucke B, Bennek J, Kiess W (2005). Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis. Exp Clin Endocrinol Diabetes, 113(4), 231-235.
     
  287. Horn LC, Limbach A, Hoepffner W, Trobs RB, Keller E, Froster UG, Richter CE, Jakubiczka S (2005). Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes. Pediatr Dev Pathol, 8(2), 197-203.
     
  288. Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B (2005). SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat, 26(3), 176-183.
     
  289. Grunauer-Kloevekorn C, Brautigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI (2005). [Molecular Genetic Analysis in the BIGH3 Gene in Lattice and Granular Corneal Dystrophy: Is Indirect Mutation Analysis Recommended?] Klin Monatsbl Augenh, 222(12), 1017-1023.
     
  290. Strenge S, Froster UG (2005). Jahresberichte der Neuromuskulären Zentren - Institut für Humangenetik. In: Pongratz D, Fischer W, Jahrbuch der Neuromuskulären Erkrankungen 2004. (S. 58-59), München: Arcis Verlag.
     


  291. 2004


  292. Froster UG, Heinritz W, Bennek J, Horn LC, Faber R (2004). Another case of autosomal dominant exstrophy of the bladder. Prenat Diagn, 24(5), 375-377.
     
  293. Strenge S, Froster UG (2004). Diaphragmatic hernia in 18p- syndrome. Am J Med Genet, 125(1), 97-99.
     
  294. Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG (2004). A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. Am J Med Genet, 124(3), 248-254.
     
  295. Strenge S, Froster UG, Wanders RJ, Gartner J, Maier EM, Muntau AC, Faber R (2004). First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome. Prenat Diagn, 24(2), 151-153.
     
  296. Krupp W, Geiger K, Schober R, Siegert G, Froster UG (2004). Cytogenetic and molecular cytogenetic analyses in diffuse astrocytomas. Cancer Genet Cytogenet, 153(1), 32-38.
     
  297. Strenge S, Heinritz W, Faber R, Froster UG (2004). FFTS - diskordante Anomalien bei monozygoten Zwillingen pädiatrie hautnah, 8, 451-453.
     
  298. Froster UG, Kujat A (2004). Multiple Fehlbildungen durch Cat-eye-Syndrom pädiatrie hautnah, 5, 274-275.
     
  299. Köhler L, Kujat A, Krupp W, Meixensberger J, Froster UG (2004). Genetische Veränderungen bei Glioblastomen Mitteilungsblatt der Sächsischen Krebsgesellschaft, 4, 6-9.
     
  300. Strenge S, Heinritz W, Froster UG (2004). HNPCC-Syndrom - Hereditäres Nicht Poypöses Colorektales Carcinom Mitteilungsblatt der Sächsischen Krebsgesellschaft, 1, 23-26.
     
  301. Stepan H, Faber R, Froster UG, Heinritz W, Wallaschofski H, Dechend R, Walther T, Huppertz B (2004). Pre-eclampsia as a 'three stage problem'--a workshop report. Placenta, 25(6), 585-587.
     
  302. Heinritz W (2004). Molekulargenetische Mutationsanalyse des APC-Gens mittels DHPLC bei Patienten mit Familiärer Adenomatöser Polyposis (FAP) In: Heinritz W, Molekulargenetische Mutationsanalyse des APC-Gens mittels DHPLC bei Patienten mit Familiärer Adenomatöser Polyposis (FAP) (S. 1-99), Berlin: TENEA Verlag für Medien.
     
  303. Plawski A, Heinritz W, Slomski R (2004). Wykrywanie mutacji metoda DHPLC na przykladzie genu APC In: Slomski R, Przyklady analiz DNA - pod redakja Ryszarda Slomskiego (S. 107-110), Poznan: Wydawnictwo Akademii Rolniczey im Agusta Cieszkows.
     
  304. Schmidt B, Gebhardt K, Froster U, Strenge S, Geyer M (2004). Psychologische Beratung im Rahmen eines Früherkennungsprogramms "Familäres Mamma- und Ovarialkarzinom" (Förderung durch die Deutsche Krebshilfe) In: Plöttner G, Psychotherapeutsche Versorgung und Versorgungsforschung (S. 87-97), Leipzig: Leipziger Universitätsverlag.
     
  305. Froster UG (2004). Pränatale Diagnostik In: Bron D, Pongratz D, Muskeldystrophie Duchenne in der Praxis (S. 39-50), Bern: Hans Huber Verlag.
     
  306. Strenge S, Froster UG (2004). Jahresberichte der Neuromuskulären Zentren - Institut für Humangenetik In: Pongratz D, Fischer W, Jahrbuch der Neuromuskulären Erkrankungen 2003 - im Auftrag der Deutschen Gesellschaft für Muskelkranke e.V. (S. 46-48), München: Arcis Verlag.