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J. Gillis · SciRah

Researcher profile · Semantic Scholar

J. Gillis

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J. Gillis — researcher profile on SciRah

h-index: 8
Works: 19
Citations: 372

Most-cited papers

Long QT, Syndactyly, Joint Contractures, Stroke and Novel CACNA1C Mutation: Expanding the Spectrum of Timothy Syndrome
J. Gillis, Elena Burashnikov, C. Antzelevitch, S. Blaser +4 more
2011American Journal of Medical Genetics. Part A94 citations Open access
Semantic Scholar
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Shabnaz Siddiq, B. Wilson, I. Graham, Monica Lamoureux +25 more
2016Orphanet Journal of Rare Diseases66 citations Open access
Semantic Scholar
Recommendations for the use of sapropterin in phenylketonuria.
A. Cunningham, H. Bausell, Mary Brown, M. Chapman +13 more
2012Molecular Genetics and Metabolism52 citations Open access
Semantic Scholar
Genotype and phenotype spectrum of NRAS germline variants
Franziska Altmüller, Christina Lissewski, D. Bertola, E. Flex +22 more
2017European Journal of Human Genetics44 citations Open access
Semantic Scholar
Characterization of New ACADSB Gene Sequence Mutations and Clinical Implications in Patients with 2-Methylbutyrylglycinuria Identified by Newborn Screening
Jaffar Alfardan, A. Mohsen, S. Copeland, J. Ellison +7 more
2010Molecular Genetics and Metabolism43 citations Open access
Semantic Scholar
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation
C. Barnett, R. Mendoza-Londono, S. Blaser, J. Gillis +5 more
2009American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Exploring patient demographic and clinical characteristics associated with lipid-lowering pharmacotherapy use in primary care.
P. Farahani, M. Levine, K. Gaebel, J. LeLorier +3 more
2007Clinical and investigative medicine. Medecine clinique et experimentale12 citations Open access
Semantic Scholar
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.
Evelyn M. Wong, A. Lehman, P. Acott, J. Gillis +2 more
2017JIMD Reports10 citations Open access
Semantic Scholar
Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology
C. O'blenes, S. Pasternak, A. Issekutz, J. Gillis +2 more
2015Pediatric dermatology7 citations
Semantic Scholar
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
Karen Paik, Matthew A. Lines, P. Chakraborty, Sara D. Khangura +25 more
2019Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques5 citations Open access
Semantic Scholar
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.
Monica Lamoureux, Kylie Tingley, J. Kronick, B. Potter +26 more
2015JIMD Reports3 citations Open access
Semantic Scholar
Strategies in undergraduate medical education: Web-based self-directed learning in genetics
A. Newman, J. Gillis
20133 citations
Semantic Scholar
eP179: Expanding the phenotype of CLCN6-associated early-onset neurodegeneration
Alan Lu, Jennifer L. Hargett, J. Gillis
2022Genetics in Medicine1 citations Open access
Semantic Scholar
North American experience with laronidase enzyme replacement therapy for mucopolysaccharidosis type I in a home infusion setting
J. Gillis, B. Burton, M. Inbar-Feigenberg, M. Mackrell +3 more
20180 citations
Semantic Scholar
Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada
J. Kronick, Monica Hernandez, Kylie Tingley, B. Potter +26 more
20140 citations
Semantic Scholar
Molecular, biochemical and clinical heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency in the Canadian Maritime Provinces
J. Gillis, David L. Skidmore, Heather M. McDonald, J. Farrel +3 more
20140 citations
Semantic Scholar
Building a pan-Canadian practice-based research network for inherited metabolic diseases: The first two years of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
B. Potter, P. Chakraborty, D. Coyle, J. Kronick +37 more
20140 citations
Semantic Scholar
Two Engineering Students Receive USF Graduate School Outstanding Dissertation Awards.
J. Gillis
20110 citations
Semantic Scholar
Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?
J. Gillis, S. Blaser, Stephen F. Miller, Chu-Mei Li
2009Clinical Dysmorphology0 citations
Semantic Scholar

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