Detalhe da pesquisa
1.
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
2.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
3.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
4.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
5.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clin Genet
; 105(5): 555-560, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287449
6.
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
J Med Genet
; 60(7): 712-716, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543535
7.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
8.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422718
9.
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Mol Genet Metab
; 140(3): 107657, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37523899
10.
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.
J Hum Genet
; 68(7): 445-453, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864284
11.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
12.
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Clin Endocrinol (Oxf)
; 97(3): 284-292, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261046
13.
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
J Med Genet
; 57(10): 683-691, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32054688
14.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041643
15.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
16.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
17.
PEHO syndrome: the endpoint of different genetic epilepsies.
J Med Genet
; 55(12): 803-813, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287594
18.
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
19.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
J Med Genet
; 55(7): 497-504, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574422
20.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(11): 100964, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728613