P. Lundquist

发表

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

E. Thorland, P. Dyck, S. Baheti, 2016, Neurology.

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

M. Patterson, P. Lundquist, K. Snow, 2001, American journal of human genetics.

C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing

C. Ida, D. Dawson, P. Lundquist, 2018, Neurodegenerative Diseases.

Deletional HPFH Vs. Delta Beta Thalassemia: Closing in on a Possible Hb F Silencer Location

P. Lundquist, J. Hoyer, André M. Oliveira, 2015 .

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader–Willi/Angelman syndrome critical region

E. Thorland, D. Dawson, P. Lundquist, 2014, American journal of medical genetics. Part A.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

K. Bae, S. Özen, A. Chapman, 2008, Kidney international.

Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large‐scale screening

Katelyn A. Reed, P. Lundquist, L. Schimmenti, 2022, Pediatric pulmonology.

Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Karen Snow, M. Patterson, P. Lundquist, 2003, Human mutation.

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

D. Dawson, P. Lundquist, P. Harris, 2007, Journal of the American Society of Nephrology : JASN.

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.

D. Dawson, P. Lundquist, W. Highsmith, 2011, The Journal of molecular diagnostics : JMD.

The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3.

C. Ida, P. Lundquist, K. Weck, 2018, Archives of Pathology & Laboratory Medicine.

Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.

E. Wieben, J. Jen, P. Lundquist, 2021, The Journal of molecular diagnostics : JMD.

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

P. Lundquist, E. Faqeih, B. Pitel, 2017, European journal of medical genetics.

Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy.

D. Schaid, S. Thibodeau, P. Lundquist, 1995, Journal of medical genetics.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

S. Özen, A. Chapman, P. Lundquist, 2008, Kidney international.

Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.

Nipun A. Mistry, Z. Niu, P. Lundquist, 2020, The journal of applied laboratory medicine.