Detalhe da pesquisa
1.
Accurate assignment of disease liability to genetic variants using only population data.
Genet Med
; 24(1): 87-99, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906463
2.
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Am J Hum Genet
; 102(6): 1062-1077, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805046
3.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892112
4.
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Hum Genet
; 135(3): 273-85, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26742502
5.
The impact of chromosomal microarray on clinical management: a retrospective analysis.
Genet Med
; 16(9): 657-64, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24625444
6.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734509
7.
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
Am J Hum Genet
; 87(2): 209-18, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20673865
8.
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
J Med Genet
; 48(4): 235-41, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21097845
9.
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.
Case Rep Genet
; 2015: 169482, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26664771
10.
Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.
Cancer Genet
; 207(4): 133-40, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24813807
11.
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.
Int J Pediatr Otorhinolaryngol
; 77(1): 123-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23121717
12.
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
Hum Mol Genet
; 14(22): 3493-8, 2005 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16207733