Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Genet Med
; : 101164, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757444
3.
Five siblings expand the spectrum of GPC6-related skeletal dysplasia.
Am J Med Genet A
; 191(10): 2571-2577, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353964
4.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med
; 24(6): 1328-1335, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341655
5.
A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy.
Am J Med Genet A
; 188(7): 2147-2152, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35347857
6.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990
7.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
8.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
9.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 101(5): 716-724, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100085
10.
Automated syndrome diagnosis by three-dimensional facial imaging.
Genet Med
; 22(10): 1682-1693, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32475986
11.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
12.
A clinically validated whole genome pipeline for structural variant detection and analysis.
BMC Genomics
; 20(Suppl 8): 545, 2019 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31307387
13.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
J Inherit Metab Dis
; 42(2): 353-361, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043187
14.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
15.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 102(1): 196, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304375
16.
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Urolithiasis
; 51(1): 101, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561200
17.
A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.
J Investig Med High Impact Case Rep
; 9: 23247096211014685, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33966472
18.
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
Genetics
; 217(2)2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724415
19.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
HGG Adv
; 2(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665635
20.
Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
Autism Res
; 13(7): 1227-1238, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32567802