Detalhe da pesquisa
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
2.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
3.
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.
Am J Med Genet A
; 191(9): 2392-2397, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434556
4.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905399
5.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
6.
A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
Am J Med Genet A
; 185(5): 1532-1537, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33569883
7.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516855
8.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346496
9.
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 26(4): 101052, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38393332
10.
Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome.
Ann Allergy Asthma Immunol
; 2024 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588913
11.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661489
12.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Hum Mutat
; 38(1): 7-15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667302
13.
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(3): 509-511, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253644
14.
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(9): 1431-1436, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32475985
15.
Chronic pain in Noonan Syndrome: A previously unreported but common symptom.
Am J Med Genet A
; 167A(12): 2998-3005, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297936
16.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest
; 134(4)2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357931
17.
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Ann Clin Transl Neurol
; 6(4): 655-668, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019990
18.
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
Mol Genet Metab
; 94(4): 485-490, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18495510
19.
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
J Child Neurol
; 31(2): 211-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26060304
20.
Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children.
Pediatrics
; 129(3): e629-35, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22351889