Joshua L. Deignan

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 910 citations · Full text

Translational Medicine, Dna Sequencing, Sequencing +8

Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks

Xia Yang, Joshua L. Deignan, Hongxiu Qi et al. · Nature Genetics · 2009 · 281 citations · Full text

Obesity, Metabolic Syndrome, Metabolic Network +8

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

Brent L. Fogel, Hane Lee, Joshua L. Deignan et al. · JAMA Neurology · 2014 · 235 citations · Full text

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos et al. · European Journal of Human Genetics · 2015 · 150 citations · Full text

Intellectual Impairment, Speech Impairment, New Recognizable Syndrome +8