Publications by authors named "Steven Keiles"

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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Izabela Karbassi, Glenn A Maston, Angela Love, Christina DiVincenzo, Corey D Braastad, Steven B Keiles

Hum Mutat· January 2016

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Rajiv D Machado, Laura Southgate, Christina A Eichstaedt, Micheala A Aldred, Eric D Austin, Steven B Keiles

Hum Mutat· December 2015

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The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.
Hansook Kim Chong, Tao Wang, Hsiao-Mei Lu, Sara Seidler, Hong Lu, Steven Keiles

PLoS One· January 2015

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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.
Jodi D Hoffman, Jessica J Park, Nicole Schreiber-Agus, Ruth Kornreich, Alice K Tanner, Steven Keiles

Prenat Diagn· December 2014

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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
Holly LaDuca, A J Stuenkel, Jill S Dolinsky, Steven Keiles, Stephany Tandy

Genet Med· November 2014

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Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Elinor Langfelder-Schwind, Barbara Karczeski, Michelle N Strecker, Joy Redman, Elaine A Sugarman, Steven Keiles

J Genet Couns· February 2014

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Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Sebastian Beer, Jiayi Zhou, András Szabó, Steven Keiles, Giriraj Ratan Chandak

Gut· November 2013

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Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
Lisa Prach, Ruth Koepke, Martin Kharrazi, Steven Keiles, Danieli B Salinas

J Mol Diagn· September 2013

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Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Sachiko Nakagawa, Jie Zhan, Wei Sun, Jose Carlos Ferreira, Steven Keiles

JIMD Rep· February 2013

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Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.
Steven Keiles, Ruth Koepke, Richard Parad, Martin Kharrazi,

J Cyst Fibros· May 2012

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Functional analysis of eight missense mutations in the SPINK1 gene.
Arnaud Boulling, Steven Keiles, Emmanuelle Masson, Jian-Min Chen, Claude Férec

Pancreas· March 2012

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Carrier testing for spinal muscular atrophy.
Jonathan M Gitlin, Kenneth Fischbeck, Thomas O Crawford, Valerie Cwik, Alan Fleischman, Steven Keiles

Genet Med· October 2010

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Report of two patients with associated conditions in addition to cystic fibrosis.
Supriya K Jambhekar, John L Carroll, Steven Keiles

J Cyst Fibros· July 2010

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2008 National Society of Genetic Counselors Presidential address: the NSGC should do something about that... and we are.
Steven Keiles

J Genet Couns· April 2009

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The role of the F508C mutation in congenital bilateral absence of the vas deferens.
Viktoria Havasi, Steven Keiles, Tina Hambuch, Eric J Sorscher, Anja Kammesheidt

Genet Med· December 2008

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Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Steven Keiles, Anja Kammesheidt

Pancreas· October 2006

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Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
Anja Kammesheidt, Martin Kharrazi, Steve Graham, Suzanne Young, Michelle Pearl, Steven Keiles

Genet Med· September 2006

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Iris Schrijver, Sudha Ramalingam, Ramalingam Sankaran, Steve Swanson, Charles L M Dunlop, Steven Keiles

J Mol Diagn· May 2005

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Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.
Kari L Danziger, Lauri D Black, Steven B Keiles, Anja Kammesheidt, Paul J Turek

Hum Reprod· March 2004

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