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Items: 1 to 50 of 527

1.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.

Karakaya M, Storbeck M, Strathmann EA, Vedove AD, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B.

Hum Mutat. 2018 Jun 2. doi: 10.1002/humu.23560. [Epub ahead of print]

PMID:
29858556
2.

HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types.

Zirkel A, Nikolic M, Sofiadis K, Mallm JP, Brackley CA, Gothe H, Drechsel O, Becker C, Altmüller J, Josipovic N, Georgomanolis T, Brant L, Franzen J, Koker M, Gusmao EG, Costa IG, Ullrich RT, Wagner W, Roukos V, Nürnberg P, Marenduzzo D, Rippe K, Papantonis A.

Mol Cell. 2018 May 17;70(4):730-744.e6. doi: 10.1016/j.molcel.2018.03.030. Epub 2018 Apr 26.

PMID:
29706538
3.

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.

Broekaert IJ, Becker K, Gottschalk I, Körber F, Dötsch J, Thiele H, Altmüller J, Nürnberg P, Hünseler C, Cirak S.

J Med Genet. 2018 Apr 16. pii: jmedgenet-2018-105262. doi: 10.1136/jmedgenet-2018-105262. [Epub ahead of print]

PMID:
29661969
4.

Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

George J, Walter V, Peifer M, Alexandrov LB, Seidel D, Leenders F, Maas L, Müller C, Dahmen I, Delhomme TM, Ardin M, Leblay N, Byrnes G, Sun R, De Reynies A, McLeer-Florin A, Bosco G, Malchers F, Menon R, Altmüller J, Becker C, Nürnberg P, Achter V, Lang U, Schneider PM, Bogus M, Soloway MG, Wilkerson MD, Cun Y, McKay JD, Moro-Sibilot D, Brambilla CG, Lantuejoul S, Lemaitre N, Soltermann A, Weder W, Tischler V, Brustugun OT, Lund-Iversen M, Helland Å, Solberg S, Ansén S, Wright G, Solomon B, Roz L, Pastorino U, Petersen I, Clement JH, Sänger J, Wolf J, Vingron M, Zander T, Perner S, Travis WD, Haas SA, Olivier M, Foll M, Büttner R, Hayes DN, Brambilla E, Fernandez-Cuesta L, Thomas RK.

Nat Commun. 2018 Mar 13;9(1):1048. doi: 10.1038/s41467-018-03099-x.

5.

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.

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, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E.

Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9.

6.

CKAP2L mutation confirms the diagnosis of Filippi syndrome.

Capecchi G, Baldassarri M, Ferranti S, Guidoni E, Cioni M, Nürnberg P, Mencarelli MA, Renieri A, Grosso S.

Clin Genet. 2018 May;93(5):1109-1110. doi: 10.1111/cge.13188. Epub 2018 Feb 23. No abstract available.

PMID:
29473684
7.

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D.

Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb.

8.

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.

Herling CD, Abedpour N, Weiss J, Schmitt A, Jachimowicz RD, Merkel O, Cartolano M, Oberbeck S, Mayer P, Berg V, Thomalla D, Kutsch N, Stiefelhagen M, Cramer P, Wendtner CM, Persigehl T, Saleh A, Altmüller J, Nürnberg P, Pallasch C, Achter V, Lang U, Eichhorst B, Castiglione R, Schäfer SC, Büttner R, Kreuzer KA, Reinhardt HC, Hallek M, Frenzel LP, Peifer M.

Nat Commun. 2018 Feb 20;9(1):727. doi: 10.1038/s41467-018-03170-7.

9.

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A, Crispatzu G, Oberbeck S, Mayer P, Pützer S, von Jan J, Vasyutina E, Warner K, Weit N, Pflug N, Braun T, Andersson EI, Yadav B, Riabinska A, Maurer B, Ventura Ferreira MS, Beier F, Altmüller J, Lanasa M, Herling CD, Haferlach T, Stilgenbauer S, Hopfinger G, Peifer M, Brümmendorf TH, Nürnberg P, Elenitoba-Johnson KSJ, Zha S, Hallek M, Moriggl R, Reinhardt HC, Stern MH, Mustjoki S, Newrzela S, Frommolt P, Herling M.

Nat Commun. 2018 Feb 15;9(1):697. doi: 10.1038/s41467-017-02688-6.

10.

Personalized risk prediction of postoperative cognitive impairment - rationale for the EU-funded BioCog project.

Winterer G, Androsova G, Bender O, Boraschi D, Borchers F, Dschietzig TB, Feinkohl I, Fletcher P, Gallinat J, Hadzidiakos D, Haynes JD, Heppner F, Hetzer S, Hendrikse J, Ittermann B, Kant IMJ, Kraft A, Krannich A, Krause R, Kühn S, Lachmann G, van Montfort SJT, Müller A, Nürnberg P, Ofosu K, Pietsch M, Pischon T, Preller J, Renzulli E, Scheurer K, Schneider R, Slooter AJC, Spies C, Stamatakis E, Volk HD, Weber S, Wolf A, Yürek F, Zacharias N; BioCog consortium.

Eur Psychiatry. 2018 Apr;50:34-39. doi: 10.1016/j.eurpsy.2017.10.004. Epub 2018 Feb 3.

PMID:
29398565
11.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.

Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.

12.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA; EUROEPINOMICS COGIE Consortium.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

PMID:
29358611
13.

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ.

Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12.

14.

Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models.

Linnekamp JF, Hooff SRV, Prasetyanti PR, Kandimalla R, Buikhuisen JY, Fessler E, Ramesh P, Lee KAST, Bochove GGW, de Jong JH, Cameron K, Leersum RV, Rodermond HM, Franitza M, Nürnberg P, Mangiapane LR, Wang X, Clevers H, Vermeulen L, Stassi G, Medema JP.

Cell Death Differ. 2018 Mar;25(3):616-633. doi: 10.1038/s41418-017-0011-5. Epub 2018 Jan 5.

PMID:
29305587
15.

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.

Alawbathani S, Kawalia A, Karakaya M, Altmüller J, Nürnberg P, Cirak S.

Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). pii: a002139. doi: 10.1101/mcs.a002139. Print 2018 Feb.

16.

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Horpaopan S, Kirfel J, Peters S, Kloth M, Hüneburg R, Altmüller J, Drichel D, Odenthal M, Kristiansen G, Strassburg C, Nattermann J, Hoffmann P, Nürnberg P, Büttner R, Thiele H, Kahl P, Spier I, Aretz S.

Hered Cancer Clin Pract. 2017 Nov 29;15:22. doi: 10.1186/s13053-017-0082-9. eCollection 2017.

17.

Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.

Ralser DJ, Lestringant GG, Du-Thanh A, Kokordelis P, Fischer J, Basmanav FBÜ, Wolf S, Thiele H, Altmüller J, Nürnberg P, Oji V, Fritz G, Frank J, Betz RC.

Br J Dermatol. 2017 Dec;177(6):e340-e343. doi: 10.1111/bjd.16024. Epub 2017 Nov 29. No abstract available.

PMID:
29192958
18.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.

Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.

19.

Gain-of-function HCN2 variants in genetic epilepsy.

Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13.

PMID:
29064616
20.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.

Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.

PMID:
29053855
21.

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).

Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marmé F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon TW, Hanker L, Kröber S, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Neunhöffer T, Krockenberger M, Brucker SY, Nürnberg P, Thiele H, Altmüller J, Lamla J, Elser G, du Bois A, Hahnen E, Schmutzler R.

PLoS One. 2017 Oct 20;12(10):e0186043. doi: 10.1371/journal.pone.0186043. eCollection 2017.

22.

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.

Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ.

Front Genet. 2017 Sep 22;8:130. doi: 10.3389/fgene.2017.00130. eCollection 2017.

23.

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J.

Nat Commun. 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7.

24.

Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis upon ICU Admission.

Scicluna BP, Wiewel MA, van Vught LA, Hoogendijk AJ, Klarenbeek AM, Franitza M, Toliat MR, Nürnberg P, Horn J, Bonten MJ, Schultz MJ, Cremer OL, van der Poll T.

Am J Respir Crit Care Med. 2018 Apr 15;197(8):1070-1073. doi: 10.1164/rccm.201707-1339LE. No abstract available.

PMID:
28972859
25.

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.

Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B.

Mol Genet Genomic Med. 2017 Jul 28;5(5):580-584. doi: 10.1002/mgg3.287. eCollection 2017 Sep.

26.

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS.

Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14.

PMID:
28892560
27.

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

Ng M, Thakkar D, Southam L, Werker P, Ophoff R, Becker K, Nothnagel M, Franke A, Nürnberg P, Espirito-Santo AI, Izadi D, Hennies HC, Nanchahal J, Zeggini E, Furniss D.

Am J Hum Genet. 2017 Sep 7;101(3):417-427. doi: 10.1016/j.ajhg.2017.08.006.

28.

Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study.

Scicluna BP, van Vught LA, Zwinderman AH, Wiewel MA, Davenport EE, Burnham KL, Nürnberg P, Schultz MJ, Horn J, Cremer OL, Bonten MJ, Hinds CJ, Wong HR, Knight JC, van der Poll T; MARS consortium.

Lancet Respir Med. 2017 Oct;5(10):816-826. doi: 10.1016/S2213-2600(17)30294-1. Epub 2017 Aug 29.

PMID:
28864056
29.

Dysfunction of the MDM2/p53 axis is linked to premature aging.

Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C.

J Clin Invest. 2017 Oct 2;127(10):3598-3608. doi: 10.1172/JCI92171. Epub 2017 Aug 28.

30.

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

Weissbach S, Reinert MC, Altmüller J, Krätzner R, Thiele H, Rosenbaum T, Nürnberg P, Gärtner J.

Am J Med Genet A. 2017 Oct;173(10):2803-2807. doi: 10.1002/ajmg.a.38390. Epub 2017 Aug 17.

PMID:
28817236
31.

Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients.

van Vught LA, Scicluna BP, Wiewel MA, Hoogendijk AJ, Klein Klouwenberg PMC, Ong DSY, Cremer OL, Horn J, Franitza M, Toliat MR, Nürnberg P, Bonten MMJ, Schultz MJ, van der Poll T; MARS Consortium.

Crit Care Med. 2017 Nov;45(11):1854-1862. doi: 10.1097/CCM.0000000000002649.

PMID:
28806220
32.

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.

Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D.

J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29.

33.

Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.

Hahnen E, Lederer B, Hauke J, Loibl S, Kröber S, Schneeweiss A, Denkert C, Fasching PA, Blohmer JU, Jackisch C, Paepke S, Gerber B, Kümmel S, Schem C, Neidhardt G, Huober J, Rhiem K, Costa S, Altmüller J, Hanusch C, Thiele H, Müller V, Nürnberg P, Karn T, Nekljudova V, Untch M, von Minckwitz G, Schmutzler RK.

JAMA Oncol. 2017 Oct 1;3(10):1378-1385. doi: 10.1001/jamaoncol.2017.1007.

PMID:
28715532
34.

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, Altmüller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.

Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.

PMID:
28714244
35.

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk AE.

Audiol Neurootol. 2017;22(1):30-40. doi: 10.1159/000474929. Epub 2017 Jun 10.

PMID:
28601886
36.

Semi-automated cancer genome analysis using high-performance computing.

Crispatzu G, Kulkarni P, Toliat MR, Nürnberg P, Herling M, Herling CD, Frommolt P.

Hum Mutat. 2017 Oct;38(10):1325-1335. doi: 10.1002/humu.23275. Epub 2017 Jul 17.

PMID:
28598576
37.

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

Usluer S, Kayserili MA, Eken AG, Yiş U, Leu C, Altmüller J, Thiele H, Nürnberg P, Sander T, Çağlayan SH.

Eur J Paediatr Neurol. 2017 Sep;21(5):773-782. doi: 10.1016/j.ejpn.2017.05.001. Epub 2017 May 13.

PMID:
28566192
38.

The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants.

Hartz A, Pagel J, Humberg A, Preuss M, Schreiter L, Rupp J, Figge J, Karsten CM, Nürnberg P, Herting E, Göpel W, Härtel C; German Neonatal Network (GNN).

PLoS One. 2017 May 30;12(5):e0178032. doi: 10.1371/journal.pone.0178032. eCollection 2017.

39.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.

Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ.

Sci Rep. 2017 May 3;7(1):1411. doi: 10.1038/s41598-017-01577-8.

40.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.

PMID:
28459997
41.

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I.

Clin Genet. 2017 Sep;92(3):342-343. doi: 10.1111/cge.12990. Epub 2017 Mar 30. No abstract available.

PMID:
28369852
42.

Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ.

Clin Genet. 2018 Jan;93(1):149-154. doi: 10.1111/cge.13022. Epub 2017 May 9.

PMID:
28369829
43.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I.

Am J Med Genet A. 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116.

PMID:
28328135
44.

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC.

J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.

45.

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy.

Kudin AP, Baron G, Zsurka G, Hampel KG, Elger CE, Grote A, Weber Y, Lerche H, Thiele H, Nürnberg P, Schulz H, Ruppert AK, Sander T, Cheng Q, Arnér ES, Schomburg L, Seeher S, Fradejas-Villar N, Schweizer U, Kunz WS.

Free Radic Biol Med. 2017 May;106:270-277. doi: 10.1016/j.freeradbiomed.2017.02.040. Epub 2017 Feb 21.

PMID:
28232204
46.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

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