Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet
; 110(11): 1959-1975, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883978
3.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216551
4.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
5.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
6.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101335
7.
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Mol Genet Metab
; 136(4): 296-305, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787971
8.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040193
9.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med
; 23(10): 1933-1943, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172899
10.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
11.
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Am J Med Genet A
; 185(3): 827-835, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296147
12.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
13.
Clinical Exome Studies Have Inconsistent Coverage.
Clin Chem
; 66(1): 199-206, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609854
14.
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
J Pediatr
; 226: 202-212.e1, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553838
15.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(8): 1899, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327536
16.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(3): 601-607, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245509
17.
Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.
Am J Med Genet A
; 179(11): 2228-2232, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321892
18.
Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.
J Genet Couns
; 28(2): 283-291, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964580
19.
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.
Am J Med Genet A
; 176(12): 2733-2739, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30513141
20.
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Pediatr Nephrol
; 33(7): 1257-1261, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637272