Va Lip
Boston Children's Hospital(US)Harvard University(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, RNA modifications and cancer, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects(2002)703 cited
- → The adult galactosemic phenotype(2011)186 cited
- → Mutations of the slow muscle α-tropomyosin gene, TPM3 , are a rare cause of nemaline myopathy(2002)84 cited
- → Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities(2012)74 cited
- → Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing(2002)71 cited
- → Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss(2009)64 cited
- → Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance(2007)57 cited
- → SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay(2013)54 cited
- → Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects(2013)36 cited
- → 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(2003)34 cited