Detalhe da pesquisa
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24998929
2.
Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores.
Am J Med Genet A
; 194(7): e63584, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38450933
3.
3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.
PLoS Genet
; 17(5): e1009528, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33983923
4.
Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.
J Assist Reprod Genet
; 41(2): 451-464, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38175314
5.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
6.
Refining nosology by modelling variation among facial phenotypes: the RASopathies.
J Med Genet
; 2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35858754
7.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
8.
Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).
J Genet Couns
; 31(5): 1043-1053, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385167
9.
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.
Neurogenetics
; 22(3): 207-213, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683518
10.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
11.
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons.
BMC Neurosci
; 22(1): 56, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525970
12.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
13.
The clinical relevance of intragenic NRXN1 deletions.
J Med Genet
; 57(5): 347-355, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932357
14.
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.
PLoS Genet
; 14(1): e1007138, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29357359
15.
Frequency and Management of Craniofacial Syndromes.
J Craniofac Surg
; 31(4): 1091-1097, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176019
16.
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
Genet Med
; 21(12): 2774-2780, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31197268
17.
Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios.
Stat Appl Genet Mol Biol
; 17(2)2018 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29708886
18.
The ethics of patenting autism genes.
Nat Rev Genet
; 19(5): 247-248, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576616
19.
The East Flanders Prospective Twin Survey (EFPTS): 55 Years Later.
Twin Res Hum Genet
; 22(6): 454-459, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31496455
20.
Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives.
Am J Med Genet A
; 176(11): 2375-2381, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345654