Detalhe da pesquisa
1.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Am J Hum Genet
; 111(1): 119-132, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141607
2.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
3.
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Clin Genet
; 101(2): 255-259, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713892
4.
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.
J Med Genet
; 58(5): 334-341, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571899
5.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299146
6.
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A
; 185(8): 2445-2454, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34032352
7.
Detection of structural mosaicism from targeted and whole-genome sequencing data.
Genome Res
; 27(10): 1704-1714, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28855261
8.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
9.
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Am J Med Genet A
; 179(3): 344-349, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637921
10.
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
11.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686260
12.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Am J Med Genet A
; 170(12): 3150-3156, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27576954
13.
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
PLoS Genet
; 8(11): e1002945, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23144622
14.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
J Biol Chem
; 288(47): 33745-33759, 2013 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108130
15.
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
Am J Med Genet A
; 164A(4): 907-14, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24459067
16.
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Eur J Hum Genet
; 30(1): 95-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645992
17.
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Neuromuscul Disord
; 31(4): 359-366, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558124
18.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Hum Mutat
; 31(3): 279-83, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20020533
19.
Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Mol Genet Genomic Med
; 7(12): e912, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568717
20.
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.
Eur J Med Genet
; 62(4): 243-247, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30048822