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.
Significant improvement of psychotic symptoms in treatment-resistant schizophrenia with clozapine in an adolescent with SHINE syndrome: a case report.
BMC Psychiatry
; 23(1): 483, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386468
5.
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
6.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
7.
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
8.
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
9.
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
10.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
11.
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
12.
Response to Widen et al.
Genet Med
; : 101156, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38856722
13.
Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome.
Ann Allergy Asthma Immunol
; 2024 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588913
14.
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
15.
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Am J Med Genet A
; 176(9): 1845-1851, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055086
16.
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
17.
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
18.
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
19.
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
20.
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