Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
2.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet
; 107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910914
3.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 2023 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
4.
What helps define outcomes in persistent uninterpretable non-invasive prenatal testing: Maternal factors, fetal fraction or quality scores?
Prenat Diagn
; 43(10): 1333-1343, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592442
5.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Am J Hum Genet
; 104(5): 957-967, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006512
6.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
7.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
8.
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
9.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Hum Mol Genet
; 28(22): 3724-3733, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884517
10.
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Clin Genet
; 99(3): 449-456, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340101
11.
Non-invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?
Prenat Diagn
; 41(10): 1264-1272, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405430
12.
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.
Genet Med
; 22(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32024963
13.
LEF1 haploinsufficiency causes ectodermal dysplasia.
Clin Genet
; 97(4): 595-600, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022899
14.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
15.
Novel CASK mutations in cases with syndromic microcephaly.
Hum Mutat
; 39(7): 993-1001, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691940
16.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892112
17.
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
18.
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.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160831
19.
Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA.
Prenat Diagn
; 38(2): 148-150, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29239474
20.
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Prenat Diagn
; 38(9): 654-663, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29966037