Publications by authors named "Lynn Pique"

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Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.
Lynn Pique, Steve Graham, Michelle Pearl, Martin Kharrazi, Iris Schrijver

Genet Med· January 2017

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Comparative functional characterization of novel non-syndromic gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.
Juan Rodriguez-Paris, Jörg Waldhaus, Jeenal A Gordhandas, Lynn Pique, Iris Schrijver

PeerJ· October 2016

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Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
Marie-Luise Brennan, Lynn M Pique, Iris Schrijver

J Cyst Fibros· January 2016

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The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Iris Schrijver, Lynn Pique, Steve Graham, Michelle Pearl, Athena Cherry

J Mol Diagn· January 2016

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Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.
Lynn M Pique, Marie-Luise Brennan, Colin J Davidson, Frederick Schaefer, John Greinwald

PeerJ· May 2014

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Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
David R Berk, Maria Del Carmen Boente, Daniela Montanari, Maria Guadalupe Toloza, Norma Betriz Primc, Lynn M Pique

Pediatr Dermatol· July 2011

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wenyi Wang, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin, Curtis Palm, Lynn Pique

Nucleic Acids Res· January 2011

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Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.
Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner

PLoS One· July 2010

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Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy.
Iris Schrijver, Lynn M Pique, Ilana Traynis, Curt Scharfe, Amy J Sehnert

Genet Med· February 2009

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Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.
Iris Schrijver, Krista Rappahahn, Lynn Pique, Martin Kharrazi, Lee-Jun Wong

J Mol Diagn· July 2008

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Progressive cerebral vascular degeneration with mitochondrial encephalopathy.
Nicola Longo, Iris Schrijver, Hannes Vogel, Lynn M Pique, Tina M Cowan

Am J Med Genet A· February 2008

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Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis.
Maggie L Naguib, Iris Schrijver, Phyllis Gardner, Lynn M Pique, Samiha S Doss

J Cyst Fibros· April 2007

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