Detalhe da pesquisa
1.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
J Med Genet
; 61(3): 250-261, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050128
2.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
3.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904126
4.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
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.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905399
7.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160375
8.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
9.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32658972
10.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343630
11.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
12.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732
13.
Neutropenia in Barth syndrome: characteristics, risks, and management.
Curr Opin Hematol
; 26(1): 6-15, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451719
14.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clin Genet
; 95(6): 693-703, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859559
15.
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Am J Med Genet A
; 179(9): 1884-1894, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313512
16.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
17.
Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.
PLoS Genet
; 12(12): e1006521, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27992425
18.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235985
19.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A
; 176(4): 862-876, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460469
20.
A multicentre study of patients with Timothy syndrome.
Europace
; 20(2): 377-385, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371864