Detalhe da pesquisa
1.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Hum Mutat
; 37(1): 127-34, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26467025
2.
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Hum Mutat
; 36(12): 1113-27, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387786
3.
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
Genet Med
; 16(11): 830-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24763289
4.
The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.
Prenat Diagn
; 34(12): 1161-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24996053
5.
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
J Genet Couns
; 23(1): 5-15, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24014130
6.
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Gut
; 62(11): 1616-24, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22942235
7.
Carrier testing for spinal muscular atrophy.
Genet Med
; 12(10): 621-2, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20808230
8.
The role of the F508C mutation in congenital bilateral absence of the vas deferens.
Genet Med
; 10(12): 910-4, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19092444
9.
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
J Mol Diagn
; 7(2): 289-99, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15858154
10.
2008 National Society of Genetic Counselors Presidential address: the NSGC should do something about that... and we are.
J Genet Couns
; 18(2): 105-8, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19229600
11.
The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.
PLoS One
; 9(5): e97408, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24830819
12.
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
J Mol Diagn
; 15(5): 710-22, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810505
13.
Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.
J Cyst Fibros
; 11(3): 257-60, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209734
14.
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
JIMD Rep
; 6: 1-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430931
15.
Report of two patients with associated conditions in addition to cystic fibrosis.
J Cyst Fibros
; 9(4): 269-71, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20510657
16.
Functional analysis of eight missense mutations in the SPINK1 gene.
Pancreas
; 41(2): 329-30, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22343981
17.
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Pancreas
; 33(3): 221-7, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17003641
18.
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
Genet Med
; 8(9): 557-62, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16980811
19.
Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.
Hum Reprod
; 19(3): 540-6, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14998948