Detalhe da pesquisa
1.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37751738
2.
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.
Hum Mol Genet
; 32(13): 2152-2161, 2023 06 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37000005
3.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35907405
4.
Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction.
EMBO Rep
; 24(10): e55043, 2023 10 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37551717
5.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proc Natl Acad Sci U S A
; 119(6)2022 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35121658
6.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34450031
7.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37872713
8.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37316189
9.
RERE deficiency contributes to the development of orofacial clefts in humans and mice.
Hum Mol Genet
; 30(7): 595-602, 2021 05 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33772547
10.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32730804
11.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37125634
12.
Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Am J Med Genet A
; 191(9): 2433-2439, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37421366
13.
Patterns of co-occurring birth defects in children with anotia and microtia.
Am J Med Genet A
; 191(3): 805-812, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36541232
14.
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
J Med Genet
; 59(3): 270-278, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33461977
15.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35094443
16.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30827496
17.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906496
18.
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Am J Med Genet A
; 188(9): 2718-2723, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35796094
19.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
; 188(7): 2198-2203, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35396900
20.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35904974