V. Lip

发表

Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.

Bai-Lin Wu, S. Ogino, R. Xu, 2003, Genetic testing.

Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia

V. Lip, D. McElhinney, L. Smoot, 2009, Archives of Disease in Childhood.

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Yiping Shen, David T. Miller, O. Platt, 2009, Physiological genomics.

Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing.

M. Harris, S. Duraisamy, V. Lip, 2021, The Journal of molecular diagnostics : JMD.

The adult galactosemic phenotype

R. Green, S. Waisbren, C. Gordon, 2012, Journal of Inherited Metabolic Disease.

Atypical cases of Angelman syndrome

Bai-Lin Wu, V. Kimonis, T. Sahoo, 2006, American journal of medical genetics. Part A.

Familial dilated cardiomyopathy secondary to dystrophin splice site mutation.

Bai-Lin Wu, V. Lip, C. Haggan, 2010, Journal of cardiac failure.

Outlier expression of isoforms by targeted RNA sequencing as clinical markers of genomic variants in B lymphoblastic leukemia and other tumor types

L. Silverman, M. Caron, V. Lip, 2022, medRxiv.

Intracytoplasmic sperm injection may increase the risk of imprinting defects.

Bai-Lin Wu, K. Sperling, V. Lip, 2002, American journal of human genetics.

Mutations of the slow muscle &agr;-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2002, Neurology.

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

S. Cheung, C. Walsh, Yiping Shen, 2007, Clinical chemistry.

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

Yiping Shen, Manolis Kellis, Va Lip, 2012, American journal of human genetics.

Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays

Chen Zhang, Daniel Xia, Va Lip, 2018, BMC Medical Informatics and Decision Making.

Orthogonal NGS for High Throughput Clinical Diagnostics

Lovelace J. Luquette, Marcia M. Nizzari, E. Mauceli, 2016, Scientific Reports.

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

Yiping Shen, J. Gusella, Bai-Lin Wu, 2013, PloS one.

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay

P. Stankiewicz, Ankita Patel, Yiping Shen, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

Yiping Shen, Va Lip, Catherine A Brownstein, 2016, American journal of medical genetics. Part A.

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

O. Platt, Bai-Lin Wu, V. Lip, 2003, American journal of medical genetics. Part A.

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

Yiping Shen, Bai-Lin Wu, A. Beggs, 2009, BMC Genetics.

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

Va Lip, Margaret Kenna, Bai-Lin Wu, 2002, Genetics in Medicine.

Outlier expression of isoforms by targeted or total RNA sequencing identifies clinically significant genomic variants in hematolymphoid tumors.

Annette S. Kim, M. Harris, L. Silverman, 2023, The Journal of molecular diagnostics : JMD.

Disruption of a Large Intergenic Noncoding Rna in Subjects with Neurodevelopmental Disabilities Accessed Terms of Use Detailed Terms

Michael F. Lin, J. Rosenfeld, S. Schwartz, 2022 .

Disruption of a Large Intergenic Noncoding Rna in Subjects with Neurodevelopmental Disabilities

S. Haggarty, M. MacDonald, S. Purcell, 2022 .

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

S. Haggarty, M. MacDonald, S. Purcell, 2012, American journal of human genetics.