Detalhe da pesquisa
1.
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
2.
Noncoding deletions reveal a gene that is critical for intestinal function.
Nature
; 571(7763): 107-111, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217582
3.
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clin Genet
; 105(1): 62-71, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853563
4.
High-impact rare genetic variants in severe schizophrenia.
Proc Natl Acad Sci U S A
; 118(51)2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34903660
5.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
6.
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Genet Med
; 25(4): 100353, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481303
7.
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Mol Psychiatry
; 27(3): 1435-1447, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799694
8.
Investigation into the genetics of fetal congenital lymphatic anomalies.
Prenat Diagn
; 43(6): 703-716, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959127
9.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med
; 23(6): 1075-1085, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580225
10.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
11.
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
J Hum Genet
; 66(3): 339-343, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948840
12.
Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene.
PLoS Genet
; 12(5): e1006008, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148741
13.
The human olfactory transcriptome.
BMC Genomics
; 17(1): 619, 2016 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27515280
14.
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.
BMC Genomics
; 17 Suppl 2: 444, 2016 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27357693
15.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
16.
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Am J Hum Genet
; 91(6): 1065-72, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176824
17.
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
Genes (Basel)
; 15(3)2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540378
18.
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Schizophr Res
; 252: 138-145, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645932
19.
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Genes (Basel)
; 14(4)2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107695
20.
DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population.
Int J Neuropsychopharmacol
; 15(4): 459-69, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21682944