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Items: 1 to 50 of 158

1.

Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients.

Mammadova A, Carels CEL, Zhou J, Gilissen C, Helmich MPAC, Bian Z, Zhou H, Von den Hoff JW.

Genes (Basel). 2019 Oct 23;10(11). pii: E836. doi: 10.3390/genes10110836.

2.

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

Runhart EH, Valkenburg D, Cornelis SS, Khan M, Sangermano R, Albert S, Bax NM, Astuti GDN, Gilissen C, Pott JR, Verheij JBGM, Blokland EAW, Cremers FPM, van den Born LI, Hoyng CB.

Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4249-4256. doi: 10.1167/iovs.19-27524.

PMID:
31618761
3.

De Novo Mutations Reflect Development and Aging of the Human Germline.

Goldmann JM, Veltman JA, Gilissen C.

Trends Genet. 2019 Nov;35(11):828-839. doi: 10.1016/j.tig.2019.08.005. Epub 2019 Oct 11. Review.

4.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE.

Am J Hum Genet. 2019 Aug 1;105(2):403-412. doi: 10.1016/j.ajhg.2019.06.007. Epub 2019 Jul 11.

PMID:
31303265
5.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM.

Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18.

PMID:
31212395
6.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A.

Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3.

7.

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis.

Jaeger M, Pinelli M, Borghi M, Constantini C, Dindo M, van Emst L, Puccetti M, Pariano M, Ricaño-Ponce I, Büll C, Gresnigt MS, Wang X, Gutierrez Achury J, Jacobs CWM, Xu N, Oosting M, Arts P, Joosten LAB, van de Veerdonk FL, Veltman JA, Ten Oever J, Kullberg BJ, Feng M, Adema GJ, Wijmenga C, Kumar V, Sobel J, Gilissen C, Romani L, Netea MG.

Sci Transl Med. 2019 Jun 12;11(496). pii: eaar3558. doi: 10.1126/scitranslmed.aar3558.

PMID:
31189718
8.

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains.

Wiel L, Baakman C, Gilissen D, Veltman JA, Vriend G, Gilissen C.

Hum Mutat. 2019 Aug;40(8):1030-1038. doi: 10.1002/humu.23798. Epub 2019 Jun 18.

9.

Exome sequencing in patients with chronic central serous chorioretinopathy.

Schellevis RL, Breukink MB, Gilissen C, Boon CJF, Hoyng CB, de Jong EK, den Hollander AI.

Sci Rep. 2019 Apr 29;9(1):6598. doi: 10.1038/s41598-019-43152-3.

10.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ.

Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28.

11.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C.

Am J Hum Genet. 2019 Apr 4;104(4):749-757. doi: 10.1016/j.ajhg.2019.02.021. Epub 2019 Mar 21.

12.

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D.

Pediatr Neurol. 2019 Jul;96:74-75. doi: 10.1016/j.pediatrneurol.2019.02.001. Epub 2019 Feb 13. No abstract available.

PMID:
30898414
13.

Deletions and loss-of-function variants in TP63 associated with orofacial clefting.

Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N, Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL, van Bokhoven H.

Eur J Hum Genet. 2019 Jul;27(7):1101-1112. doi: 10.1038/s41431-019-0370-0. Epub 2019 Mar 8.

PMID:
30850703
14.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

15.

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Lipinski S, Petersen BS, Barann M, Piecyk A, Tran F, Mayr G, Jentzsch M, Aden K, Stengel ST, Klostermeier UC, Sheth V, Ellinghaus D, Rausch T, Korbel JO, Nothnagel M, Krawczak M, Gilissen C, Veltman JA, Forster M, Forster P, Lee CC, Fritscher-Ravens A, Schreiber S, Franke A, Rosenstiel P.

Cold Spring Harb Mol Case Stud. 2019 Feb 1;5(1). pii: a002428. doi: 10.1101/mcs.a002428. Print 2019 Feb.

16.

Author Correction: Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5.

PMID:
30291356
17.

1 in 38 individuals at risk of a dominant medically actionable disease.

Haer-Wigman L, van der Schoot V, Feenstra I, Vulto-van Silfhout AT, Gilissen C, Brunner HG, Vissers LELM, Yntema HG.

Eur J Hum Genet. 2019 Feb;27(2):325-330. doi: 10.1038/s41431-018-0284-2. Epub 2018 Oct 5.

PMID:
30291343
18.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H.

Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5.

PMID:
30287925
19.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V; DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A.

Nat Genet. 2018 Oct;50(10):1442-1451. doi: 10.1038/s41588-018-0220-y. Epub 2018 Sep 17.

PMID:
30224647
20.

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S.

Mol Psychiatry. 2018 Aug 31. doi: 10.1038/s41380-018-0128-z. [Epub ahead of print]

PMID:
30171209
21.

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A.

Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13.

22.

Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expression.

Devanna P, van de Vorst M, Pfundt R, Gilissen C, Vernes SC.

Hum Genet. 2018 Sep;137(9):717-721. doi: 10.1007/s00439-018-1925-9. Epub 2018 Aug 10.

23.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.

Goldmann JM, Seplyarskiy VB, Wong WSW, Vilboux T, Neerincx PB, Bodian DL, Solomon BD, Veltman JA, Deeken JF, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Apr;50(4):487-492. doi: 10.1038/s41588-018-0071-6. Epub 2018 Mar 5.

PMID:
29507425
24.

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA.

J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16.

25.

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schäfer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA.

Nat Genet. 2018 Jan;50(1):120-129. doi: 10.1038/s41588-017-0006-7. Epub 2017 Dec 18.

26.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA.

Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5.

27.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF, Kousi M, van Woerden GM, Klein M, Bralten J, Mancini GMS, van Essen T, Proietti-Onori M, Smeets EEJ, van Gastel M, Stegmann APA, Stevens SJC, Lelieveld SH, Gilissen C, Pfundt R, Tan PL, Kleefstra T, Franke B, Elgersma Y, Katsanis N, Brunner HG.

Nat Commun. 2017 Oct 20;8(1):1052. doi: 10.1038/s41467-017-00933-6.

28.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N.

Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.

29.

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Lelieveld SH, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman JA, Brunner HG, Vissers LELM, Gilissen C.

Am J Hum Genet. 2017 Sep 7;101(3):478-484. doi: 10.1016/j.ajhg.2017.08.004. Epub 2017 Aug 31.

30.

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.

Wiel L, Venselaar H, Veltman JA, Vriend G, Gilissen C.

Hum Mutat. 2017 Nov;38(11):1454-1463. doi: 10.1002/humu.23313. Epub 2017 Aug 31.

31.

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.

Oud MS, Ramos L, O'Bryan MK, McLachlan RI, Okutman Ö, Viville S, de Vries PF, Smeets DFCM, Lugtenberg D, Hehir-Kwa JY, Gilissen C, van de Vorst M, Vissers LELM, Hoischen A, Meijerink AM, Fleischer K, Veltman JA, Noordam MJ.

Hum Mutat. 2017 Nov;38(11):1592-1605. doi: 10.1002/humu.23312. Epub 2017 Sep 6.

PMID:
28801929
32.

Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.

Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU.

J Dent Res. 2017 Oct;96(11):1314-1321. doi: 10.1177/0022034517722761. Epub 2017 Aug 2.

PMID:
28767323
33.

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

Acuna-Hidalgo R, Sengul H, Steehouwer M, van de Vorst M, Vermeulen SH, Kiemeney LALM, Veltman JA, Gilissen C, Hoischen A.

Am J Hum Genet. 2017 Jul 6;101(1):50-64. doi: 10.1016/j.ajhg.2017.05.013. Epub 2017 Jun 29.

34.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.

Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006.

35.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY.

Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.

36.

Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease.

Plantinga TS, Arts P, Knarren GH, Mulder AH, Wakelkamp IM, Hermus AR, Joosten LA, Netea MG, Bisschop PH, de Herder WW, Beijers HJ, de Bruin IJ, Gilissen C, Veltman JA, Hoischen A, Smit JW, Netea-Maier RT.

Clin Pharmacol Ther. 2017 Dec;102(6):1017-1024. doi: 10.1002/cpt.733. Epub 2017 Jul 10.

PMID:
28486791
37.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.

Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.

38.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.

PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.

39.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.168. No abstract available.

40.

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.

Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B.

Am J Hum Genet. 2017 Feb 2;100(2):297-315. doi: 10.1016/j.ajhg.2017.01.005. Epub 2017 Jan 26.

41.

MST1R mutation as a genetic cause of Lady Windermere syndrome.

Becker KL, Arts P, Jaeger M, Plantinga TS, Gilissen C, van Laarhoven A, van Ingen J, Veltman JA, Joosten LA, Hoischen A, Netea MG, Iseman MD, Chan ED, van de Veerdonk FL.

Eur Respir J. 2017 Jan 18;49(1). pii: 1601478. doi: 10.1183/13993003.01478-2016. Print 2017 Jan. No abstract available.

42.

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.

Vulto-van Silfhout AT, Gilissen C, Goeman JJ, Jansen S, van Amen-Hellebrekers CJM, van Bon BWM, Koolen DA, Sistermans EA, Brunner HG, de Brouwer APM, de Vries BBA.

Hum Mutat. 2017 May;38(5):594-599. doi: 10.1002/humu.23176. Epub 2017 Feb 2.

PMID:
28074630
43.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG.

Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.

44.

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG.

Genome Med. 2016 Dec 13;8(1):131.

45.

Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients.

Langemeijer SM, Mariani N, Knops R, Gilissen C, Woestenenk R, de Witte T, Huls G, van der Reijden BA, Jansen JH.

PLoS One. 2016 Nov 30;11(11):e0165582. doi: 10.1371/journal.pone.0165582. eCollection 2016.

46.

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

Khandelwal KD, Ishorst N, Zhou H, Ludwig KU, Venselaar H, Gilissen C, Thonissen M, van Rooij IA, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner HG, Mangold E, Hoischen A, van Bokhoven H, Carels CE.

J Dent Res. 2017 Feb;96(2):179-185. doi: 10.1177/0022034516678829. Epub 2016 Nov 13.

PMID:
27834299
47.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JS, Faivre L.

Eur J Hum Genet. 2016 Jan;25(1):43-51. doi: 10.1038/ejhg.2016.133. Epub 2016 Nov 2.

48.

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL.

Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10.

49.

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

Jansen S, Kleefstra T, Willemsen MH, de Vries P, Pfundt R, Hehir-Kwa JY, Gilissen C, Veltman JA, de Vries BB, Vissers LE.

Clin Genet. 2016 Nov;90(5):413-419. doi: 10.1111/cge.12729. Epub 2016 Feb 14.

PMID:
26752331
50.

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Spiegler S, Kirchmaier B, Rath M, Korenke GC, Tetzlaff F, van de Vorst M, Neveling K, Acker-Palmer A, Kuss AW, Gilissen C, Fischer A, Schulte-Merker S, Felbor U.

Mol Syndromol. 2016 Jul;7(3):144-52. doi: 10.1159/000446884. Epub 2016 Jun 18.

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