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BMC Medical Genetics|December 5, 2014
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatelliteAvinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
Genome Research|October 5, 2012
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorderPrzemyslaw Szafranski, Avinash V Dharmadhikari, Erwin Brosens, et al.
Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
JAMA Pediatrics|October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementLinyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Human Mutation|September 28, 2011
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsPaweł Stankiewicz, Shashikant Kulkarni, Avinash V Dharmadhikari, et al.
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