Detalhe da pesquisa
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474920
2.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet
; 21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
3.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38126281
4.
Patterns of co-occurring birth defects in children with anotia and microtia.
Am J Med Genet A
; 191(3): 805-812, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541232
5.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Mol Cell
; 59(6): 956-69, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365382
6.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321323
7.
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
PLoS Genet
; 16(11): e1009106, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151932
8.
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
Hered Cancer Clin Pract
; 21(1): 11, 2023 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37400873
9.
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine.
Genes Chromosomes Cancer
; 61(6): 303-313, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331337
10.
[Genomic newborn screening-research approaches, challenges, and opportunities]. / Genomisches Neugeborenenscreening Forschungsansätze, Herausforderungen und Chancen.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 66(11): 1232-1242, 2023 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-37831095
11.
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Hum Mol Genet
; 29(3): 459-470, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943016
12.
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Hum Mol Genet
; 29(5): 705-715, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600777
13.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616647
14.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
15.
Parental perceptions of genetic testing for children with autism spectrum disorders.
Am J Med Genet A
; 188(1): 178-186, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562062
16.
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Am J Med Genet A
; 188(9): 2627-2636, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789103
17.
Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research.
Pediatr Res
; 92(2): 373-377, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702975
18.
Birth defect co-occurrence patterns in the Texas Birth Defects Registry.
Pediatr Res
; 91(5): 1278-1285, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193968
19.
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
Cleft Palate Craniofac J
; 59(4): 417-426, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33906455
20.
Germline testing for homologous recombination repair genes-opportunities and challenges.
Genes Chromosomes Cancer
; 60(5): 332-343, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33078493