Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 340

1.

Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition.

Kalbfleisch TS, Rice ES, DePriest MS Jr, Walenz BP, Hestand MS, Vermeesch JR, O'Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ, Bellone RR, McCue ME, Brooks SA, Bailey E, Orlando L, Green RE, Miller DC, Antczak DF, MacLeod JN.

Commun Biol. 2019 Sep 11;2(1):342. doi: 10.1038/s42003-019-0591-3.

PMID:
31925183
2.

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

Vervoort L, Demaerel W, Rengifo LY, Odrzywolski A, Vergaelen E, Hestand MS, Breckpot J, Devriendt K, Swillen A, McDonald-McGinn DM, Fiksinski AM, Zinkstok JR, Morrow BE, Heung T, Vorstman JAS, Bassett AS, Chow EWC, Shashi V; International 22q11.2 Brain; Behavior Consortium, Vermeesch JR.

Hum Mol Genet. 2019 Nov 15;28(22):3724-3733. doi: 10.1093/hmg/ddz166.

PMID:
31884517
3.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE.

Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20.

PMID:
31870554
4.

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.

van Rooij IA, Ludwig KU, Welzenbach J, Ishorst N, Thonissen M, Galesloot TE, Ongkosuwito E, Bergé SJ, Aldhorae K, Rojas-Martinez A, Kiemeney LA, Vermeesch JR, Brunner H, Roeleveld N, Devriendt K, Dormaar T, Hens G, Knapp M, Carels C, Mangold E.

Genes (Basel). 2019 Dec 7;10(12). pii: E1023. doi: 10.3390/genes10121023.

5.

Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting.

Žilina O, Rekker K, Kaplinski L, Sauk M, Paluoja P, Teder H, Ustav EL, Tõnisson N, Reimand T, Ridnõi K, Palta P, Vermeesch JR, Krjutškov K, Kurg A, Salumets A.

Prenat Diagn. 2019 Dec;39(13):1262-1268. doi: 10.1002/pd.5578. Epub 2019 Nov 6. German.

PMID:
31691324
6.

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages.

Zamani Esteki M, Viltrop T, Tšuiko O, Tiirats A, Koel M, Nõukas M, Žilina O, Teearu K, Marjonen H, Kahila H, Meekels J, Söderström-Anttila V, Suikkari AM, Tiitinen A, Mägi R, Kõks S, Kaminen-Ahola N, Kurg A, Voet T, Vermeesch JR, Salumets A.

Nat Med. 2019 Nov;25(11):1699-1705. doi: 10.1038/s41591-019-0620-2. Epub 2019 Nov 4.

PMID:
31686035
7.

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
8.

Detection of incipient tumours by screening of circulating plasma DNA: hype or hope?

Lenaerts L, Tuveri S, Jatsenko T, Amant F, Vermeesch JR.

Acta Clin Belg. 2020 Feb;75(1):9-18. doi: 10.1080/17843286.2019.1671653. Epub 2019 Oct 3.

PMID:
31578135
9.

Erratum: Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition.

Kalbfleisch TS, Rice ES, DePriest MS Jr, Walenz BP, Hestand MS, Vermeesch JR, O'Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ, Bellone RR, McCue ME, Brooks SA, Bailey E, Orlando L, Green RE, Miller DC, Antczak DF, MacLeod JN.

Commun Biol. 2019 Sep 11;2:342. doi: 10.1038/s42003-019-0591-3. eCollection 2019.

10.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR.

Genome Res. 2019 Sep;29(9):1389-1401. doi: 10.1101/gr.248682.119.

PMID:
31481461
11.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D.

Genet Med. 2019 Sep 2. doi: 10.1038/s41436-019-0645-4. [Epub ahead of print]

PMID:
31474763
12.

Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing.

Lenaerts L, Van Calsteren K, Che H, Vermeesch JR, Amant F.

Prenat Diagn. 2019 Nov;39(12):1162-1165. doi: 10.1002/pd.5544. Epub 2019 Aug 28. No abstract available.

13.

Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.

Masset H, Zamani Esteki M, Dimitriadou E, Dreesen J, Debrock S, Derhaag J, Derks K, Destouni A, Drüsedau M, Meekels J, Melotte C, Peeraer K, Tšuiko O, van Uum C, Allemeersch J, Devogelaere B, François KO, Happe S, Lorson D, Richards RL, Theuns J, Brunner H, de Die-Smulders C, Voet T, Paulussen A, Coonen E, Vermeesch JR.

Hum Reprod. 2019 Aug 1;34(8):1608-1619. doi: 10.1093/humrep/dez106.

PMID:
31348829
14.

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.

15.

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
16.

Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells.

Masoumi Z, Maes GE, Herten K, Cortés-Calabuig Á, Alattar AG, Hanson E, Erlandsson L, Mezey E, Magnusson M, Vermeesch JR, Familari M, Hansson SR.

Int J Mol Sci. 2019 Apr 25;20(8). pii: E2038. doi: 10.3390/ijms20082038.

17.

Diagnostic implications of genetic copy number variation in epilepsy plus.

Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium.

Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13.

18.

Current Controversies in Prenatal Diagnosis 3: Gene editing should replace embryo selection following PGD.

Wells D, Vermeesch JR, Simpson JL.

Prenat Diagn. 2019 Apr;39(5):344-350. doi: 10.1002/pd.5442. No abstract available.

PMID:
30834542
19.

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.

20.
21.

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.

Zablotskaya A, Van Esch H, Verstrepen KJ, Froyen G, Vermeesch JR.

BMC Med Genomics. 2018 Dec 19;11(1):123. doi: 10.1186/s12920-018-0446-7.

22.

Improved reference genome for the domestic horse increases assembly contiguity and composition.

Kalbfleisch TS, Rice ES, DePriest MS Jr, Walenz BP, Hestand MS, Vermeesch JR, O Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ, Bellone RR, McCue ME, Brooks SA, Bailey E, Orlando L, Green RE, Miller DC, Antczak DF, MacLeod JN.

Commun Biol. 2018 Nov 16;1:197. doi: 10.1038/s42003-018-0199-z. eCollection 2018. Erratum in: Commun Biol. 2019 Sep 11;2:342. Commun Biol. 2019 Sep 11;2(1):342.

23.

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.

Destouni A, Dimitriadou E, Masset H, Debrock S, Melotte C, Van Den Bogaert K, Zamani Esteki M, Ding J, Voet T, Denayer E, de Ravel T, Legius E, Meuleman C, Peeraer K, Vermeesch JR.

Hum Reprod. 2018 Dec 1;33(12):2302-2311. doi: 10.1093/humrep/dey325.

24.

Molecular genetics of 22q11.2 deletion syndrome.

Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ.

Am J Med Genet A. 2018 Oct;176(10):2070-2081. doi: 10.1002/ajmg.a.40504. Review.

25.

Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors.

Lenaerts L, Vandenberghe P, Brison N, Che H, Neofytou M, Verheecke M, Leemans L, Maggen C, Dewaele B, Dehaspe L, Vanderschueren S, Dierickx D, Vandecaveye V, Amant F, Vermeesch JR.

Ann Oncol. 2019 Jan 1;30(1):85-95. doi: 10.1093/annonc/mdy476.

PMID:
30371735
26.

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
27.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.

Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JAS, Morrow BE; International 22q11.2 Brain and Behavior Consortium.

Am J Med Genet A. 2018 Oct;176(10):2172-2181. doi: 10.1002/ajmg.a.40359. Epub 2018 Oct 5.

28.

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.

29.

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.

30.

Response to a comment on "Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing".

Brison N, Dehaspe L, Vermeesch JR.

Prenat Diagn. 2018 Aug;38(9):722-723. doi: 10.1002/pd.5285. Epub 2018 Jul 19. No abstract available.

PMID:
30027563
31.

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
32.

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells.

Dastidar S, Ardui S, Singh K, Majumdar D, Nair N, Fu Y, Reyon D, Samara E, Gerli MFM, Klein AF, De Schrijver W, Tipanee J, Seneca S, Tulalamba W, Wang H, Chai YC, In't Veld P, Furling D, Tedesco FS, Vermeesch JR, Joung JK, Chuah MK, VandenDriessche T.

Nucleic Acids Res. 2018 Sep 19;46(16):8275-8298. doi: 10.1093/nar/gky548.

33.

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.

34.

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
35.

Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios.

Cosemans N, Claes P, Brison N, Vermeesch JR, Peeters H.

Stat Appl Genet Mol Biol. 2018 Apr 28;17(2). pii: /j/sagmb.2018.17.issue-2/sagmb-2017-0026/sagmb-2017-0026.xml. doi: 10.1515/sagmb-2017-0026.

PMID:
29708886
36.

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.

Thygesen JH, Wolfe K, McQuillin A, Viñas-Jornet M, Baena N, Brison N, D'Haenens G, Esteba-Castillo S, Gabau E, Ribas-Vidal N, Ruiz A, Vermeesch J, Weyts E, Novell R, Buggenhout GV, Strydom A, Bass N, Guitart M, Vogels A.

Br J Psychiatry. 2018 May;212(5):287-294. doi: 10.1192/bjp.2017.65.

PMID:
29693535
37.

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.

38.

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies.

Sauk M, Žilina O, Kurg A, Ustav EL, Peters M, Paluoja P, Roost AM, Teder H, Palta P, Brison N, Vermeesch JR, Krjutškov K, Salumets A, Kaplinski L.

Sci Rep. 2018 Apr 4;8(1):5616. doi: 10.1038/s41598-018-23589-8.

39.

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.

Ardui S, Ameur A, Vermeesch JR, Hestand MS.

Nucleic Acids Res. 2018 Mar 16;46(5):2159-2168. doi: 10.1093/nar/gky066. Review.

40.

The genetic structure of the Belgian population.

Van den Eynden J, Descamps T, Delporte E, Roosens NHC, De Keersmaecker SCJ, De Wit V, Vermeesch JR, Goetghebeur E, Tafforeau J, Demarest S, Van den Bulcke M, Van Oyen H.

Hum Genomics. 2018 Feb 2;12(1):6. doi: 10.1186/s40246-018-0136-8.

41.

A speculative outlook on embryonic aneuploidy: Can molecular pathways be involved?

Tšuiko O, Jatsenko T, Parameswaran Grace LK, Kurg A, Vermeesch JR, Lanner F, Altmäe S, Salumets A.

Dev Biol. 2019 Mar 1;447(1):3-13. doi: 10.1016/j.ydbio.2018.01.014. Epub 2018 Jan 31. Review.

PMID:
29391166
42.

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
43.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia.

Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028.

44.

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.

45.

Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.

Frans G, Meert W, Van der Werff Ten Bosch J, Meyts I, Bossuyt X, Vermeesch JR, Hestand MS.

J Mol Diagn. 2018 Mar;20(2):195-202. doi: 10.1016/j.jmoldx.2017.10.005. Epub 2017 Dec 18.

46.

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
47.

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.

Cristofoli F, De Keersmaecker B, De Catte L, Vermeesch JR, Van Esch H.

Mol Syndromol. 2017 Nov;8(6):282-293. doi: 10.1159/000479666. Epub 2017 Sep 27.

48.

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M Jr; on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics.

Eur J Hum Genet. 2018 Jan;26(1):12-33. doi: 10.1038/s41431-017-0016-z. Epub 2017 Dec 4. Review.

49.

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M Jr; European Society of Human Reproduction and Embryology and European Society of Human Genetics.

Hum Reprod Open. 2017 Dec 4;2017(3):hox015. doi: 10.1093/hropen/hox015. eCollection 2017.

50.

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.

Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE; International 22q11.2 Consortium/Brain and Behavior Consortium*.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001690. doi: 10.1161/CIRCGENETICS.116.001690.

Supplemental Content

Loading ...
Support Center