B. Friedman

发表

Clinical application of whole-exome sequencing across clinical indications

W. Chung, S. Bale, D. Pineda-Alvarez, 2015, Genetics in Medicine.

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Julie R. Jones, Allyn McConkie-Rosell, Wendy K. Chung, 2016, Cold Spring Harbor molecular case studies.

Mobile element insertion detection in 89,874 clinical exomes

E. Beaver, J. Heeley, S. Neil, 2020, Genetics in Medicine.

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Z. Niu, M. Shinawi, R. Schnur, 2015, Journal of Medical Genetics.

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

R. Cantor, K. Taylor, Xiuqing Guo, 2004, Journal of Medical Genetics.

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

S. Bale, A. Telegrafi, Brooke T. Smith, 2016, American journal of medical genetics. Part A.

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

K. Retterer, G. Richard, J. Juusola, 2017, Genetics in Medicine.

Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations

B. Friedman, M. Shahbazi, A. Haghighi, 2013, Journal of the Neurological Sciences.

Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy

Delu Zhou, C. Palmer, S. Suchy, 2014, Neuromuscular Disorders.

Mobile element insertion detection in 89,874 clinical exomes

E. Beaver, S. Neil, Kevin Galens, 2020, Genetics in Medicine.

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Joshua L. Deignan, Lora J. H. Bean, H. Rehm, 2018, Genetics in Medicine.

A SOX5 gene variant as a possible contributor to short stature

F. Faucz, C. Stratakis, B. Friedman, 2020, Endocrinology, diabetes & metabolism case reports.