Publications by authors named "Lip Va"

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Genomic Profiling of Pediatric Mycosis Fungoides, Lymphomatoid Papulosis, and Primary Cutaneous Anaplastic Large Cell Lymphoma Identifies Recurrent Tyrosine Kinase Gene Fusions.
Grant M Fischer, Harrison K Tsai, Jennifer Huang, Mark C Mochel, Sam Sadigh, Va Lip

Mod Pathol· December 2025

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Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
Harrison K Tsai, Tasos Gogakos, Va Lip, Jonathan M Tsai, Yen-Der Li, Eva J Schaefer, Valentina Nardi

J Mol Diagn· September 2023

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Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing.
Alyaa Al-Ibraheemi, Juan Putra, Harrison K Tsai, Samantha Cano, Va Lip

J Mol Diagn· October 2021

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Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays.
Daniel Xia, Chen Zhang, Va Lip, Marian Harris, Yiping Shen

BMC Med Inform Decis Mak· November 2018

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Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Catherine A Brownstein, Robin J Kleiman, Elizabeth C Engle, Meghan C Towne, Eugene J D'Angelo, Va Lip, Kaya Bilguvar

Am J Med Genet A· May 2016

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Orthogonal NGS for High Throughput Clinical Diagnostics.
Niru Chennagiri, Eric J White, Alexander Frieden, Edgardo Lopez, Daniel S Lieber, Va Lip, Evan Mauceli

Sci Rep· April 2016

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Genetic Evaluation of Copy Number Variations, Loss of Heterozygosity, and Single-Nucleotide Variant Levels in Human Embryonic Stem Cells With or Without Skewed X Chromosome Inactivation.
Wei-Qiang Liu, Jie-Liang Li, Jian Wang, Wen-Yin He, Lip Va

Stem Cells Dev· August 2015

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SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
Yu An, Sami S Amr, Alcy Torres, Laura Weissman, Peter Raffalli, Va Lip

Am J Med Genet B Neuropsychiatr Genet· December 2013

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Detection of copy number variants reveals association of cilia genes with neural tube defects.
Xiaoli Chen, Yiping Shen, Yonghui Gao, Huizhi Zhao, Xiaoming Sheng, Va Lip

PLoS One· July 2013

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Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Michael E Talkowski, Gilles Maussion, Liam Crapper, Jill A Rosenfeld, Ian Blumenthal, Va Lip

Am J Hum Genet· December 2012

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The adult galactosemic phenotype.
Susan E Waisbren, Nancy L Potter, Catherine M Gordon, Robert C Green, Patricia Greenstein, Va Lip

J Inherit Metab Dis· March 2012

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Familial dilated cardiomyopathy secondary to dystrophin splice site mutation.
Dita Obler, Bai-Lin Wu, Va Lip, Elicia Estrella, Sally Keck

J Card Fail· March 2010

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Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Richard R Bennett, Hal E Schneider, Elicia Estrella, Stephanie Burgess, Andrew S Cheng, Va Lip

BMC Genet· October 2009

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Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
Pu Dai, Andrew K Stewart, Fouad Chebib, Ann Hsu, Julia Rozenfeld, Va Lip

Physiol Genomics· August 2009

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Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Yiping Shen, Mira Irons, David T Miller, Sau Wai Cheung, Va Lip

Clin Chem· December 2007

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Atypical cases of Angelman syndrome.
Amy Lawson-Yuen, Bai-Lin Wu, Va Lip, Trilochan Sahoo, Virginia Kimonis

Am J Med Genet A· November 2006

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Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.
Hong Shao, Va Lip, Bai-lin Wu

Beijing Da Xue Xue Bao Yi Xue Ban· February 2005

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Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.
Ruliang Xu, Shuji Ogino, Va Lip, Hong Fang, Bai-Lin Wu

Genet Test· October 2004

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Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.
Bai-Lin Wu, Margaret Kenna, Va Lip, Mira Irons, Orah Platt

Am J Med Genet A· August 2003

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Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Bai-Lin Wu, Neal Lindeman, Va Lip, Albert Adams, R Stephen Amato

Genet Med· November 2002

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Intracytoplasmic sperm injection may increase the risk of imprinting defects.
Gerald F Cox, Joachim Bürger, Va Lip, Ulrike A Mau, Karl Sperling

Am J Hum Genet· July 2002

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