Publications by authors named "Patrick Lundquist"

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Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening.
Jaime Lopes, Noemi Vidal-Folch, Patrick Lundquist, Lisa A Schimmenti, Nadir Demirel

Pediatr Pulmonol· March 2023

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Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.
Aruna Rangan, Molly S Hein, William G Jenkinson, Tejaswi Koganti, Ross A Aleff, Patrick Lundquist

J Mol Diagn· December 2021

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Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
Malinda Butz, Amber McDonald, Patrick A Lundquist, Melanie Meyer, Sean Harrington

J Appl Lab Med· May 2020

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C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.
Cristiane M Ida, Malinda L Butz, Patrick A Lundquist, D Brian Dawson

Neurodegener Dis· October 2019

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The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3.
Cristiane M Ida, Patrick A Lundquist, Karen Weck, W Edward Highsmith

Arch Pathol Lab Med· March 2019

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A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.
Yang Cao, Susan S AlHumaidi, Eissa A Faqeih, Beth A Pitel, Patrick Lundquist

Eur J Med Genet· August 2017

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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.
Wei Wang, Chen Wang, D Brian Dawson, Erik C Thorland, Patrick A Lundquist

Neurology· May 2016

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Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.
Umut Aypar, Pamela R Brodersen, Patrick A Lundquist, D Brian Dawson, Erik C Thorland

Am J Med Genet A· October 2014

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Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster.
Benjamin R Kipp, Samantha E Roellinger, Patrick A Lundquist, W Edward Highsmith, D Brian Dawson

J Mol Diagn· September 2011

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Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.
Dragana Milosevic, Patrick Lundquist, Kendall Cradic, Noemi Vidal-Folch, ThanhTruc Huynh

Clin Biochem· May 2010

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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Mark B Consugar, Wai C Wong, Patrick A Lundquist, Sandro Rossetti, Vickie J Kubly

Kidney Int· December 2008

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Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Carla G Monico, Sandro Rossetti, Heidi A Schwanz, Julie B Olson, Patrick A Lundquist

J Am Soc Nephrol· June 2007

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Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Walter D Park, John F O'Brien, Patrick A Lundquist, Daniel L Kraft, Cate Walsh Vockley

Hum Mutat· October 2003

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