Ivan Shelihan

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

E. Rossignol, M. Brivet, Ivan Shelihan, 2021, JIMD reports.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

R. Ganetzky, R. Maroofian, H. Houlden, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype

N. Brunetti‐Pierri, Philippe M. Campeau, C. Baldo, 2018, Human Genetics.

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype

N. Brunetti‐Pierri, Philippe M. Campeau, C. Baldo, 2018, Human Genetics.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.