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B. Friedman · SciRah

Researcher profile · Semantic Scholar

B. Friedman

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B. Friedman — researcher profile on SciRah

h-index: 11
Works: 17
Citations: 1,451

Most-cited papers

Clinical application of whole-exome sequencing across clinical indications
K. Retterer, J. Juusola, M. Cho, P. Vitazka +17 more
2015Genetics in Medicine975 citations Open access
Semantic Scholar
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
Carin Yates, K. Monaghan, Deborah Copenheaver, K. Retterer +5 more
2017Genetics in Medicine153 citations Open access
Semantic Scholar
Mobile element insertion detection in 89,874 clinical exomes
R. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai +13 more
2020Genetics in Medicine61 citations Open access
Semantic Scholar
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
F. Millan, M. Cho, K. Retterer, Kristin G Monaghan +16 more
2016American Journal of Medical Genetics. Part A61 citations
Semantic Scholar
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
C. DeSanto, K. D’Aco, G. Araujo, N. Shannon +17 more
2015Journal of Medical Genetics58 citations
Semantic Scholar
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Akemi J. Tanaka, M. Cho, K. Retterer, Julie R. Jones +12 more
2016Cold Spring Harbor molecular case studies42 citations Open access
Semantic Scholar
Genetic counseling in industry settings: Opportunities in the era of precision health
K. McWalter, M. Cho, Tara L. Hart, Rachel Nusbaum +9 more
2018American Journal of Medical Genetics. Part C, Seminars in Medical Genetics23 citations Open access
Semantic Scholar
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
Tara L. Wenger, Abbey A. Scott, L. Kruidenier, M. Sikes +29 more
2024medRxiv21 citations Open access
Semantic Scholar
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization
Celeste C. Eno, P. Bayrak-Toydemir, Lora J. H. Bean, Alicia A. Braxton +15 more
2018Genetics in Medicine16 citations Open access
Semantic Scholar
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14
C. Steiner, Nadia Ehtesham, K. Taylor, Eiman T Sebald +15 more
2004Journal of Medical Genetics14 citations Open access
Semantic Scholar
Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
A. Haghighi, D. Fathi, M. Shahbazi, Mohammadmehdi Motahari +1 more
2013Journal of Neurological Sciences13 citations
Semantic Scholar
A SOX5 gene variant as a possible contributor to short stature
Athanasios Gkirgkinoudis, C. Tatsi, S. Deward, B. Friedman +2 more
2020Endocrinology, Diabetes & Metabolism Case Reports8 citations Open access
Semantic Scholar
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
B. Friedman, K. Simpson, C. Tesi-Rocha, De-Lu Zhou +2 more
2014Neuromuscular Disorders4 citations
Semantic Scholar
O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
Wendy K. Chung, Alban Ziegler, Carrie L. Koval-Burt, Denise M. Kay +38 more
2024Genetics in Medicine Open2 citations Open access
Semantic Scholar
Considering the Benefits and Risks of Research Participants' Access to Sequence Data
S. Haga, B. Friedman, G. Richard
2017Genetic Testing and Molecular Biomarkers2 citations
Semantic Scholar
Mobile element insertion detection in 89,874 clinical exomes
R. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai +13 more
2020Genetics in Medicine0 citations Open access
Semantic Scholar
Identification of novel somatic mosaic EFNB1 variants in patients affected with craniofrontonasal syndrome
H. Lord, A. Seller, B. Friedman, A. Barnicoat +2 more
20100 citations
Semantic Scholar

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