Detalhe da pesquisa
1.
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Hum Mol Genet
; 28(21): 3543-3551, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31423530
2.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
3.
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
Clin Chem
; 66(7): 958-965, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533152
4.
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
5.
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a ß cell phenotype.
J Med Genet
; 51(3): 165-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24285859
6.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Eur J Hum Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605124
7.
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.
Eur J Med Genet
; 66(6): 104768, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059329
8.
Primate-specific ZNF808 is essential for pancreatic development in humans.
Nat Genet
; 55(12): 2075-2081, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973953
9.
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Genome Med
; 14(1): 77, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869530
10.
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.
HGG Adv
; 2(1): 100015, 2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33537682
11.
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.
J Endocr Soc
; 3(12): 2258-2275, 2019 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31737856
12.
Pitfalls of haplotype phasing from amplicon-based long-read sequencing.
Sci Rep
; 6: 21746, 2016 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26883533