Detalhe da pesquisa
1.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944084
2.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
3.
The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Am J Perinatol
; 41(4): 383-394, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154468
4.
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Brain
; 145(3): 925-938, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355055
5.
An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.
Pediatr Hematol Oncol
; 40(8): 800-806, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334681
6.
Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy.
J Physiol
; 598(22): 5245-5269, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32833227
7.
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Am J Hum Genet
; 98(6): 1235-1242, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259054
8.
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Am J Med Genet A
; 176(8): 1711-1722, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055033
9.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A
; 176(4): 862-876, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460469
10.
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).
Curr Allergy Asthma Rep
; 18(12): 75, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377837
11.
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Am J Med Genet A
; 173(5): 1390-1395, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371217
12.
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
J Med Genet
; 52(12): 804-14, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26424144
13.
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Am J Med Genet A
; 161A(8): 1929-39, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804593
14.
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.
Nat Rev Genet
; 8(11): 869-83, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17943194
15.
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
JAMA Netw Open
; 6(10): e2339571, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878314
16.
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
Am J Med Genet A
; 158A(12): 3033-45, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169682
17.
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
J Med Genet
; 48(6): 396-406, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21441262
18.
Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU.
Neoreviews
; 23(12): e829-e840, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450644
19.
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
Hum Mutat
; 32(1): 91-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21120947
20.
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Hum Mol Genet
; 18(8): 1377-83, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19193630