Detalhe da pesquisa
1.
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Am J Hum Genet
; 110(9): 1470-1481, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582359
2.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
3.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
4.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
5.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976411
6.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37951597
7.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
8.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
9.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
10.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Genet Med
; 26(5): 101097, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38334070
11.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
12.
Comparative analysis of gene and disease selection in genomic newborn screening studies.
J Inherit Metab Dis
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757337
13.
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
14.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
15.
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
Mol Genet Metab
; 140(3): 107675, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37572574
16.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Brain
; 145(4): 1551-1563, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694367
17.
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Brain
; 145(8): 2721-2729, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293990
18.
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
PLoS Genet
; 16(3): e1008625, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176688
19.
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
; 141(2): 257-272, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907471
20.
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Am J Hum Genet
; 105(2): 395-402, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353022