SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment

by Lauren Swan, John Cardinal, David Coman
Published 2018-08-01

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

by Hobia Gole, Raymond Chuk, David Coman
Published 2016-08-01

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency

by Marcia A. Munoz, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J. W. Arts, David Coman, David Coman, David Coman, Christina Boros, Sam Mehr, Michael J. Rogers
Published 2019-08-01

Septic arthritis of the temporomandibular joint in an infant

by Raymond Chuk, John Arvier, Barbara Laing, David Coman
Published 2015-07-01

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

by Anand Ramineni BSc, MBBS, GSCpMed, David Coman MBBS, MPhil, FRACP
Published 2016-08-01

Pediatric Hereditary Neuralgic Amyotrophy

by Raymond Chuk MBBS, Megan Sheppard MBBS, Geoff Wallace MBBS, FRACP, David Coman MBBS, MPhil, FRACP
Published 2016-09-01

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

by Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava
Published 2020-01-01

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

by Rocio Rius, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina P. Kava, Andre E. Minoche, Mark J. Cowley, David R. Thorburn, John Christodoulou
Published 2021-04-01

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia

by Abrey J. Yeo, Kok L. Chong, Magtouf Gatei, Dongxiu Zou, Romal Stewart, Sarah Withey, Ernst Wolvetang, Robert G. Parton, Adam D. Brown, Michael B. Kastan, David Coman, Martin F. Lavin
Published 2021-01-01

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

by David Coman FRACP, Tom Fullston PhD, Cheryl Shoubridge PhD, Richard Leventer PhD, Flora Wong FRACP, Simon Nazaretian FRCPA, Ian Simpson FRCPA, Josef Gecz PhD, George McGillivray FRACP
Published 2017-11-01