2024


  1. Degenhardt F, Wohlleber E, Jamra RA, Hebebrand J (2024). [Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]. Z Kinder Jugendpsychiatr Psychother, 52(1), 43-59.
     
  2. Yap P, Riley LG, Kakadia PM, Bohlander SK, Curran B, Rahimi MJ, Alburaiky S, Hayes I, Oppermann H, Print C, Cooper ST, Le Quesne Stabej P (2024). Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism. Eur J Hum Genet, 32(1), 125-129.
     
  3. Degenhardt F, Wohlleber E, Jamra RA, Hebebrand J (2024). [Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]. Z Kinder Jugendpsychiatr Psychother, 52(1), 43-59.
     
  4. Degenhardt F, Wohlleber E, Jamra RA, Hebebrand J (2024). Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]. Kinder- und Jugendpsychiatrie und Psychotherapie, 52(1), 43-59.
     
  5. Yap P, Riley LG, Kakadia PM, Bohlander SK, Curran B, Rahimi MJ, Alburaiky S, Hayes I, Oppermann H, Print C, Cooper ST, Le Quesne Stabej P (2024). Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism. Eur J Hum Genet, 32(1), 125-129.
     


    6. 2023


  6. Müller-Nedebock AC, Cuttler K, Pfaff AL, Kõks S (2023). Longitudinal dysregulation of long non-coding RNAs in Parkinson's disease. Exp Biol Med (Maywood), 248(20), 1780-1784.
     
  7. Müller-Nedebock AC, Cuttler K, Pfaff AL, Kõks S (2023). Longitudinal dysregulation of long non-coding RNAs in Parkinson's disease. Exp Biol Med (Maywood), 248(20), 1780-1784.
     
  8. Heuft L, Voigt J, Selig L, Schmidt M, Eckelt F, Steinbach D, Federbusch M, Stumvoll M, Schlögl H, Isermann B, Kaiser T (2023). Development, Design and Utilization of a CDSS for Refeeding Syndrome in Real Life Inpatient Care-A Feasibility Study. Nutrients, 15(17), 3712.
     
  9. Heuft L (2023). In Reply. Dtsch Arztebl Int, 120(31-32), 544.
     
  10. Stiller S, Drukewitz S, Lehmann K, Hentschel J, Strehlow V (2023). Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome. Cancers (Basel), 15(15), 3938.
     
  11. Baerwald C (2023). [External modulation of the immune system]. Z Rheumatol, 82(6), 449-450.
     
  12. Müller-Nedebock AC, Dekker MCJ, Farrer MJ, Hattori N, Lim SY, Mellick GD, Rektorová I, Salama M, Schuh AFS, Stoessl AJ, Sue CM, Tan AH, Vidal RL, Klein C, Bardien S (2023). Different pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson's disease. NPJ Parkinsons Dis, 9(1), 110.
     
  13. Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D (2023). Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population. Am J Hum Genet, 110(7), 1110-1122.
     
  14. von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H (2023). De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy. Genet Med, 25(7), 100859.
     
  15. Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser S (2023). De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children. Pediatr Neurol, 148, 164-171.
     
  16. Krasselt M, Baerwald C (2023). [Fibromyalgia as a Rheumatic Pain Syndrome]. Dtsch Med Wochenschr, 148(22), 1467-1472.
     
  17. Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodo (2023). CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. Eur J Hum Genet, 31(11), 1251-1260.
     
  18. Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G (2023). Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Hum Genet, 142(4), 543-552.
     
  19. Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K (2023). Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. Eur J Hum Genet, 31(3), 345-352.
     
  20. Heuft L, Voigt J, Selig L, Stumvoll M, Schlögl H, Kaiser T (2023). Refeeding Syndrome. Dtsch Arztebl Int, 120(7), 107-114.
     
  21. Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V (2023). Genetic and phenotypic spectrum in the NONO-associated syndromic disorder. Am J Med Genet A, 191(2), 469-478.
     
  22. Popp B, Brugger M, Poschmann S, Bartolomaeus T, Radtke M, Hentschel J, Di Donato N, Rump A, Gburek-Augustat J, Graf E, Wagner M, Sorge I, Lemke JR, Meitinger T, Abou Jamra R, Strehlow V, Brunet T (2023). The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. Clin Genet, 103(2), 226-230.
     
  23. Viehweger A, Marquet M, Hölzer M, Dietze N, Pletz MW, Brandt C (2023). Nanopore-based enrichment of antimicrobial resistance genes - a case-based study. GigaByte, 2023(), gigabyte75.
     
  24. Viehweger A (2023). Faltwerk: a library for spatial exploratory data analysis of protein structures. Bioinform Adv, 3(1), vbad007.
     
  25. Christian Boßelmann, Ingo Borggräfe, Walid Fazeli, Karl-Martin Klein, Gerhard J Kluger, Karen Müller-Schlüter, Bernd A Neubauer, Sarah von Spiczak, Celina Steinbeis von Stülpnagel, Yvonne Weber, Johannes R Lemke, Stefan Wolking, Ilona Krey (2023). Genetische Diagnostik der Epilepsien: Empfehlung der Kommission Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE) Clinical Epileptology, 36, 224-237.
     
  26. Insa Halfmeyer, Tobias Bartolomaeus, Bernt Popp, Maximilian Radtke, Tobias Helms, Julia Hentschel, Denny Popp, Rami Abou Jamra (2023). Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders Genes, 14, 30-43.
     
  27. Moch J, Radtke M, Gburek-Augustat J, Karnstedt M, Schönnagel S, Drukewitz SH, Pilgram L, Hentschel J, Schumann I (2023). Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis. Front Genet, 14(), 1297754.
     
  28. Bartolomaeus T, Hentschel J, Jamra RA, Popp B (2023). Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18. Eur J Hum Genet, 31(10), 1154-1164.
     
  29. Li M, Richter S, Mohr H, Drukewitz S, Poser I, Stanke D, Calsina B, Martinez-Montes AM, Quinkler M, Timmers HJLM, Nölting S, Beuschlein F, Remde H, Opocher G, Rapizzi E, Pacak K, Pamporaki C, Robledo M, Liu L, Jiang J, Bornstein SR, Eisenhofer G, Fliedner SMJ, Bechmann N (2023). Regulation of epinephrine biosynthesis in HRAS-mutant paragangliomas. Endocr Relat Cancer, 30(12), 00000.
     
  30. Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møll (2023). SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. Brain, 146(12), 5198-5208.
     
  31. Harings T, Neininger MP, Eisenhofer S, Thiele AG, Kiess W, Bertsche A, Beblo S, Bertsche T (2023). Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism. Children (Basel), 10(12), 1873.
     
  32. Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK (2023). Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Med, 15(1), 102.
     
  33. Zheng L, Rang M, Fuchs C, Keß A, Wunsch M, Hentschel J, Hsiao CC, Kleber C, Osterhoff G, Aust G (2023). The Posttraumatic Increase in the Adhesion of GPCR EMR2/ADGRE2 to Circulating Neutrophils Is Not Related to Injury Severity. Cells, 12(22), 2657.
     
  34. Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I (2023). Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb. Acta Neuropathol Commun, 11(1), 179.
     
  35. XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF (2023). Clinical and functional consequences of GRIA variants in patients with neurological diseases. Cell Mol Life Sci, 80(11), 345.
     
  36. Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, van Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER (2023). Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Hum Mol Genet, 32(22), 3123-3134.
     
  37. Krasselt M, Baerwald C (2023). [Fibromyalgia as a Rheumatic Pain Syndrome]. Dtsch Med Wochenschr, 148(22), 1467-1472.
     
  38. Merz LM, Hentschel J, Roth C, Siekmeyer M, Dittrich K, Petzold F (2023). A rare combination of hydronephrosis, megaureter, and hyperphosphatasia. Kidney Int, 104(5), 1039-1040.
     
  39. Naschberger E, Fuchs M, Dickel N, Kunz M, Popp B, Anchang CG, Demmler R, Lyu Y, Uebe S, Ekici AB, Geppert CI, Hartmann A, Flierl C, Petter K, Gass T, Völkl S, Scharl M, Ramming A, Günther C, Merkel S, Schellerer VS, Stürzl M (2023). Tumor microenvironment-dependent epigenetic imprinting in the vasculature predicts colon cancer outcome. Cancer Commun (Lond), 43(11), 1280-1285.
     
  40. Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser S (2023). De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children. Pediatr Neurol, 148(), 164-171.
     
  41. Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodo (2023). CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. Eur J Hum Genet, 31(11), 1251-1260.
     
  42. Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Milli (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med, 25(11), 100950.
     
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    435. 2016


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  476. 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.
     
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  492. 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.
     
  493. 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.
     
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  495. 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.
     
  496. 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.
     
  497. 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.
     
  498. 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.
     
  499. 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 .
     
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    501. 2014


  501. 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.
     
  502. Lemke JR, Kernland-Lang K, Hortnagel K, Itin P (2014). Monogenic human skin disorders. Dermatology, 229(2), 55-64.
     
  503. 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.
     
  504. 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.
     
  505. 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.
     
  506. 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.
     
  507. 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.
     
  508. 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.
     
  509. 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.
     
  510. 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.
     
  511. 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.
     
  512. 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.
     
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    515. 2013


  515. 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.
     
  516. 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.
     
  517. 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.
     
  518. Dreifuss M (2013). [A case from practice (177). Acute hepatitis B]. Schweiz Rundsch Med Prax, 79(20), 643-644.
     
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  520. 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.
     
  521. Passarge E (2013). Color Atlas of Genetics. In: PassargeE, Color Atlas of Genetics. (S. 1-496), Stuttgart - New York: Thieme Verlag .
     
  522. 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.
     


    523. 2012


  523. 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.
     
  524. 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.
     
  525. 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.
     
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  527. Passarge E (2012). Color Atlas of Genetics In: PassargeE, Color Atlas of Genetics. (S. 1-496), Stuttgart - New York: Thieme Verlag .
     


    528. 2011


  528. 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.
     
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    532. 2010


  532. 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.
     
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    535. 2009


  535. 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.
     
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  537. 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.
     
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  539. 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.
     
  540. 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.
     
  541. 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.
     
  542. 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.
     
  543. 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.
     
  544. 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.
     


    545. 2008


  545. 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.
     
  546. 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.
     
  547. 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.
     
  548. 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.
     
  549. 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.
     
  550. 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.
     
  551. 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.
     
  552. 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.
     


    553. 2007


  553. 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.
     
  554. Heinritz W, Heinritz S, Froster UG (2007). Beckwith-Wiedemann-Syndrom: Erhöhtes Tumorrisiko verlangt Vorsorge. pädiatrie hautnah, 1, 45-47.
     
  555. 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.
     
  556. Froster UG, Skrzypczak M (2007). Das Fragile-X-Syndrom. Pädiatr Praxis, 70, 481-490.
     
  557. Kujat A, Strenge S, Froster UG (2007). Genetische Beratung bei Entwicklungstörungen von Kindern. Kinder- und Jugendmedizin, 7(4), 183-187.
     
  558. Strenge S, Froster UG, Berhard MK, Kujat A, Merkenschlager A (2007). CME: Häufige Mikrodeletionssyndrome. Kinder- und Jugendmedizin, 7(4), 189-196.
     
  559. Froster UG (2007). Das Fragile-X-Syndrom. Kinder- und Jugendmedizin, 7(4), 199-202.
     
  560. Froster UG (2007). Editorial: Die Bedeutung der Humangenetik in der Pädiatrie Kinder- und Jugendmedizin, 7(4), 179.
     
  561. 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.
     
  562. 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.
     
  563. 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.
     
  564. 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.
     
  565. Froster UG, Matzen P (2007). Angeborene Anomalien. In: Matzen P, Kinderorthopädie. (S. 321-386), München . Jena: Urban u. Fischer.
     


    566. 2006


  566. 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.
     
  567. 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.
     
  568. 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.
     
  569. 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.
     
  570. 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.
     
  571. 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.
     
  572. 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.
     
  573. Heinritz W, Froster UG (2006). Von-Hippel-Lindau-Syndrom. Mitteilungsblatt Sächsische Krebsgesellschaft e.V., 4, 19-21.
     
  574. 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.
     
  575. Gerber M, Froster UG (2006). Sachsen in der Versorgung von Brustkrebshochrisikofamilien beispiellos in den neuen Ländern. Mitteilungsblatt Sächsische Krebsgesellschaft e.V., 1, 6-7.
     
  576. 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.
     
  577. 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.
     
  578. Strenge S, Froster UG (2006). Neuromuskuläres Zentrum Leipzig - Institut für Humangenetik. Jahrbuch der neuromuskulären Erkrankungen , , 61-62.
     
  579. 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.
     
  580. 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.
     
  581. 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.
     
  582. Bernhard MK, Herbertz S, Strenge S, Syrbe S, Merkenschlager A (2006). Rezidivierende Muskellähmungen: HNPP als wichtige Differentialdiagnose. Kinder- und Jugendmedizin, 6(6), 369-370.
     
  583. 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.
     
  584. 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.
     


    585. 2005


  585. 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.
     
  586. 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.
     
  587. 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.
     
  588. 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.
     
  589. Kujat A, Froster UG (2005). Molekularzytogenetische Untersuchungen mittels Spectral Karyotyping BIOforum, 28(6), 38-39.
     
  590. Kujat A, Faber R, Froster UG (2005). Klinik und Diagnostik des Waardenburg-Syndroms Typ 1. pädiatrie hautnah, 3, 148-150.
     
  591. Froster UG (2005). Vor dem Test kommt die Beratung (In: Brustkrebs, was jede Frau darüber wissen sollte) Deutsche Krebsgesellschaft e.V. / Brigitte, 1, 13.
     
  592. Heinritz W, Shou L, Moschik A, Froster UG (2005). The human TBX5 gene mutation database. Hum Mutat, 26(4), 1-4 (397).
     
  593. Froster UG (2005). Editorial: Mut zur frühen Abklärung pädiatrie hautnah, 4, 169.
     
  594. 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.
     
  595. 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.
     
  596. 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.
     
  597. 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.
     
  598. 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.
     
  599. 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.
     
  600. 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.
     


    601. 2004


  601. 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.
     
  602. Strenge S, Froster UG (2004). Diaphragmatic hernia in 18p- syndrome. Am J Med Genet, 125(1), 97-99.
     
  603. 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.
     
  604. 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.
     
  605. 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.
     
  606. Strenge S, Heinritz W, Faber R, Froster UG (2004). FFTS - diskordante Anomalien bei monozygoten Zwillingen pädiatrie hautnah, 8, 451-453.
     
  607. Froster UG, Kujat A (2004). Multiple Fehlbildungen durch Cat-eye-Syndrom pädiatrie hautnah, 5, 274-275.
     
  608. Köhler L, Kujat A, Krupp W, Meixensberger J, Froster UG (2004). Genetische Veränderungen bei Glioblastomen Mitteilungsblatt der Sächsischen Krebsgesellschaft, 4, 6-9.
     
  609. Strenge S, Heinritz W, Froster UG (2004). HNPCC-Syndrom - Hereditäres Nicht Poypöses Colorektales Carcinom Mitteilungsblatt der Sächsischen Krebsgesellschaft, 1, 23-26.
     
  610. 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.
     
  611. 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.
     
  612. 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.
     
  613. 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.
     
  614. Froster UG (2004). Pränatale Diagnostik In: Bron D, Pongratz D, Muskeldystrophie Duchenne in der Praxis (S. 39-50), Bern: Hans Huber Verlag.
     
  615. 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.