Detalhe da pesquisa
1.
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Am J Hum Genet
; 110(1): 92-104, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563679
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057194
3.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
4.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 405-411, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109420
5.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet
; 105(2): 403-412, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303265
6.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929739
7.
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
Am J Hum Genet
; 101(3): 478-484, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28867141
8.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Genet Med
; 22(4): 797-802, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776469
9.
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains.
Hum Mutat
; 40(8): 1030-1038, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116477
10.
Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts.
Nucleic Acids Res
; 45(18): 10634-10648, 2017 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977405
11.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Hum Genet
; 137(5): 389-400, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754270
12.
Mind the Gap: The Complete Human Genome Unlocks Benefits for Clinical Genomics.
Clin Chem
; 69(1): 6-8, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112529
13.
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.
Hum Mutat
; 38(11): 1454-1463, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815929
14.
Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures.
Cell Genom
; : 100421, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697122
15.
The functional impact of rare variation across the regulatory cascade.
Cell Genom
; 3(10): 100401, 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37868038