Detalhe da pesquisa
1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet;
110(6): 998-1007, 2023 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37207645
2.
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
J Pediatr;
265: 113808, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37923198
3.
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Am J Med Genet A;
194(5): e63530, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38197511
4.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain;
146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36757831
5.
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Am J Hum Genet;
106(1): 121-128, 2020 01 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31883643
6.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
J Pediatr;
262: 113620, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37473993
7.
Ocular Biomarkers of Riboflavin Transporter Deficiency.
J Neuroophthalmol;
43(1): 110-115, 2023 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35921603
8.
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.
Proc Natl Acad Sci U S A;
116(9): 3662-3667, 2019 02 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30808755
9.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet;
140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33811546
10.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med;
23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33077894
11.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A;
185(9): 2766-2775, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34160123
12.
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Am J Med Genet A;
185(12): 3675-3682, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34272929
13.
Ciliopathies: Coloring outside of the lines.
Am J Med Genet A;
185(3): 687-694, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33369054
14.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A;
185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33783954
15.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain;
143(8): 2380-2387, 2020 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32658972
16.
Clinical utility of exome sequencing in infantile heart failure.
Genet Med;
22(2): 423-426, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31527676
17.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med;
22(8): 1338-1347, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32424177
18.
NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.
Am J Med Genet A;
182(6): 1454-1459, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32198970
19.
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Am J Med Genet A;
182(12): 2926-2938, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33043588
20.
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Genet Med;
21(9): 2007-2014, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30760892