Detalhe da pesquisa
1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207645
2.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753057
3.
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.
Am J Med Genet A
; 194(1): 100-102, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37706616
4.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
5.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227688
6.
Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Genet Med
; 20(1): 159-163, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640241
7.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
8.
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Hum Mol Genet
; 23(19): 5271-82, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833718
9.
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Hum Mol Genet
; 22(24): 4967-77, 2013 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23873045
10.
Kinesin family member 6 (kif6) is necessary for spine development in zebrafish.
Dev Dyn
; 243(12): 1646-57, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25283277
11.
Rapid Genome Sequencing in the Critically Ill.
Clin Chem
; 65(6): 723-726, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842082
12.
Are copy number variants associated with adolescent idiopathic scoliosis?
Clin Orthop Relat Res
; 472(10): 3216-25, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25005481
13.
Effect of Uterine Leiomyomas on Noninvasive Prenatal Testing Parameters in the First Trimester.
Obstet Gynecol
; 143(3): 456-458, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38207338
14.
Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.
Front Oncol
; 14: 1338022, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511139
15.
Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
Am J Hum Genet
; 87(1): 154-60, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598276
16.
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.
J Mol Diagn
; 24(2): 177-188, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074075
17.
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Hum Mol Genet
; 18(7): 1200-8, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19139049
18.
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
NPJ Genom Med
; 5: 47, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110627
19.
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.
Eur J Hum Genet
; 21(4): 373-80, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22892537
20.
Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect.
J Bone Joint Surg Am
; 94(16): 1485-91, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22992817