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Items: 1 to 50 of 513

1.

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study, Wang K, Timmers HTM, Lyon GJ.

Hum Mutat. 2019 Oct 23. doi: 10.1002/humu.23936. [Epub ahead of print]

PMID:
31646703
2.

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.

Robyns T, Willems R, Van Cleemput J, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Breckpot J, Devriendt K, Corveleyn A.

Acta Cardiol. 2019 Oct 4:1-6. doi: 10.1080/00015385.2019.1674490. [Epub ahead of print]

PMID:
31583969
3.

Holoprosencephaly: A case series from an area with high mining-related pollution.

Kayembe-Kitenge T, Kasole Lubala T, Musa Obadia P, Katoto Chimusa P, Katshiez Nawej C, Banza Lubaba Nkulu C, Devriendt K, Nemery B.

Birth Defects Res. 2019 Nov 15;111(19):1561-1563. doi: 10.1002/bdr2.1583. Epub 2019 Aug 16.

PMID:
31419067
4.

Fetal sex determination in twin pregnancies using non-invasive prenatal testing.

Villela D, Che H, Van Ghelue M, Dehaspe L, Brison N, Van Den Bogaert K, Devriendt K, Lewi L, Bayindir B, Vermeesch JR.

NPJ Genom Med. 2019 Jul 4;4:15. doi: 10.1038/s41525-019-0089-4. eCollection 2019.

5.

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.

Brison N, Storms J, Villela D, Claeys KG, Dehaspe L, de Ravel T, De Waele L, Goemans N, Legius E, Peeters H, Van Esch H, Race V, Robert Vermeesch J, Devriendt K, Van Den Bogaert K.

Genet Med. 2019 Dec;21(12):2774-2780. doi: 10.1038/s41436-019-0564-4. Epub 2019 Jun 14.

PMID:
31197268
6.

PEDIA: prioritization of exome data by image analysis.

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, Đukić 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, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.

Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5.

PMID:
31164752
7.

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium.

Van Elslande J, Brison N, Vermeesch JR, Devriendt K, Van Den Bogaert K, Legius E, Van Ranst M, Vermeersch P, Billen J.

Clin Chem Lab Med. 2019 Oct 25;57(11):e294-e297. doi: 10.1515/cclm-2019-0231. No abstract available.

PMID:
31112505
8.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M.

Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18.

9.

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Mbuyi-Musanzayi S, Kasamba EI, Revencu N, Lukusa PT, Kalenga PM, Tshilombo FK, Reychler H, Devriendt K.

Clin Dysmorphol. 2020 Jan;29(1):24-27. doi: 10.1097/MCD.0000000000000272.

PMID:
30946036
10.

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
11.

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.

Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, Scherer SW.

J Neurodev Disord. 2019 Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3.

12.

Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.

Willaert A, Van Eynde C, Verhaert N, Desloovere C, Vander Poorten V, Devriendt K, Swillen A, Hens G.

Am J Med Genet A. 2019 Mar;179(3):448-454. doi: 10.1002/ajmg.a.7. Epub 2019 Jan 11.

PMID:
30635960
13.

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD.

Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250.

PMID:
30582441
14.

Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives.

Roosenboom J, Hermans R, Lammens F, Samain JL, Devriendt K, Vander Poorten V, Hellings PW, Jorissen M, Peeters H, Claes P, Hens G.

Am J Med Genet A. 2018 Nov;176(11):2375-2381. doi: 10.1002/ajmg.a.40348. Epub 2018 Oct 22.

PMID:
30345654
15.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S, Chiarappa P, Courtens W, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Fieuw A, Fransen E, Gatot JS, Holmgren P, Jamar M, Janssens S, Keymolen K, Lederer D, Menten B, Meuwissen M, Parmentier B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vanakker O, Vermeesch J, Janssens K.

Prenat Diagn. 2018 Dec;38(13):1120-1128. doi: 10.1002/pd.5373. Epub 2018 Nov 14.

PMID:
30334587
16.

First trimester cystic hygroma colli: Retrospective analysis in a tertiary center.

Schreurs L, Lannoo L, De Catte L, Van Schoubroeck D, Devriendt K, Richter J.

Eur J Obstet Gynecol Reprod Biol. 2018 Dec;231:60-64. doi: 10.1016/j.ejogrb.2018.10.019. Epub 2018 Oct 9.

PMID:
30321790
17.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study, Devriendt K, Breckpot J.

Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5.

PMID:
30291340
18.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2019 Aug;21(8):1894-1895. doi: 10.1038/s41436-018-0035-3.

PMID:
30201961
19.

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. No abstract available.

20.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.

Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712.

PMID:
30160831
21.

Congenital lateral abdominal wall defect in two Congolese children.

Mubungu G, Kadima B, Lumaka A, Mbayabo G, Lukusa Tshilobo P, Devriendt K.

Clin Dysmorphol. 2019 Jan;28(1):50-52. doi: 10.1097/MCD.0000000000000239. No abstract available.

PMID:
30138140
22.

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K.

Am J Med Genet A. 2018 Sep;176(9):1897-1909. doi: 10.1002/ajmg.a.40382. Epub 2018 Aug 8.

23.

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.

Lumaka A, Lubala TK, Race V, Peeters H, Lukusa P, Devriendt K.

J Community Genet. 2019 Jan;10(1):153-159. doi: 10.1007/s12687-018-0374-4. Epub 2018 Jul 4.

24.

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.

Kammoun M, Souche E, Brady P, Ding J, Cosemans N, Gratacos E, Devriendt K, Eixarch E, Deprest J, Vermeesch JR.

Prenat Diagn. 2018 Aug;38(9):654-663. doi: 10.1002/pd.5327. Epub 2018 Jul 19.

PMID:
29966037
25.

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium.

Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Review.

26.

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Ardui S, Race V, de Ravel T, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR.

Front Genet. 2018 May 16;9:150. doi: 10.3389/fgene.2018.00150. eCollection 2018.

27.

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

Mbuyi-Musanzayi S, Kayembe TJ, Kashal MK, Lukusa PT, Kalenga PM, Tshilombo FK, Devriendt K, Reychler H.

J Craniomaxillofac Surg. 2018 Jul;46(7):1051-1058. doi: 10.1016/j.jcms.2018.05.006. Epub 2018 May 9.

PMID:
29802056
28.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM.

Mol Psychiatry. 2019 Nov;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4.

PMID:
29728705
29.

Novel CASK mutations in cases with syndromic microcephaly.

Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR.

Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11.

30.

Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome.

Lambrechts S, Devriendt K, Vogels A.

J Clin Psychopharmacol. 2018 Jun;38(3):260-261. doi: 10.1097/JCP.0000000000000871. No abstract available.

PMID:
29596149
31.

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.

Dardour L, Cosyns K, Devriendt K.

Mol Syndromol. 2017 Dec;9(1):22-24. doi: 10.1159/000479359. Epub 2017 Aug 12.

32.

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.

Cosemans N, Vandenhove L, Maljaars J, Van Esch H, Devriendt K, Baldwin A, Fryns JP, Noens I, Peeters H.

Eur J Med Genet. 2018 Jul;61(7):376-383. doi: 10.1016/j.ejmg.2018.02.002. Epub 2018 Feb 7.

PMID:
29427787
33.

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

Brison N, Neofytou M, Dehaspe L, Bayindir B, Van Den Bogaert K, Dardour L, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Prenat Diagn. 2018 Mar;38(4):258-266. doi: 10.1002/pd.5223. Epub 2018 Feb 19.

PMID:
29388226
34.

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Kammoun M, Brady P, De Catte L, Deprest J, Devriendt K, Vermeesch JR.

Eur J Hum Genet. 2018 Mar;26(3):359-366. doi: 10.1038/s41431-017-0032-z. Epub 2018 Jan 22.

35.

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Louw JJ, Nunes Bastos R, Chen X, Verdood C, Corveleyn A, Jia Y, Breckpot J, Gewillig M, Peeters H, Santoro MM, Barr F, Devriendt K.

PLoS Genet. 2018 Jan 22;14(1):e1007138. doi: 10.1371/journal.pgen.1007138. eCollection 2018 Jan.

36.

Unified mean-field framework for susceptible-infected-susceptible epidemics on networks, based on graph partitioning and the isoperimetric inequality.

Devriendt K, Van Mieghem P.

Phys Rev E. 2017 Nov;96(5-1):052314. doi: 10.1103/PhysRevE.96.052314. Epub 2017 Nov 27.

PMID:
29347672
37.

Pseudoinverse of the Laplacian and best spreader node in a network.

Van Mieghem P, Devriendt K, Cetinay H.

Phys Rev E. 2017 Sep;96(3-1):032311. doi: 10.1103/PhysRevE.96.032311. Epub 2017 Sep 15.

PMID:
29346956
38.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
39.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
40.

Nodal vulnerability to targeted attacks in power grids.

Cetinay H, Devriendt K, Van Mieghem P.

Appl Netw Sci. 2018;3(1):34. doi: 10.1007/s41109-018-0089-9. Epub 2018 Aug 23.

41.

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T, Kuiperi C, Breckpot J, Devriendt K, Souche E, Van Cleemput J, Willems R, Nuyens D, Matthijs G, Corveleyn A.

Eur J Hum Genet. 2017 Dec;25(12):1313-1323. doi: 10.1038/s41431-017-0004-3. Epub 2017 Oct 10.

42.

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.

Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Erratum in: Hum Mutat. 2019 Jan;40(1):127.

PMID:
29243349
43.

Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA.

Neofytou M, Brison N, Van den Bogaert K, Dehaspe L, Devriendt K, Geerts A, Vermeesch JR.

Prenat Diagn. 2018 Jan;38(2):148-150. doi: 10.1002/pd.5194. Epub 2018 Jan 4.

PMID:
29239474
44.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

45.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

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