Farrah Rajabi

Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

Lance H. Rodan, Kwame Anyane‐Yeboa, Karen Chong et al. · American Journal of Medical Genetics Part A · 2018 · 42 citations

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Dang, Hannes Huber et al. · Genome Medicine · 2021 · 30 citations · Full text

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Bart Appelhof, Matias Wagner, Julia Hoefele et al. · European Journal of Human Genetics · 2020 · 29 citations · Full text

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

Jacqueline L. Steele, Michelle M. Morrow, Harvey B. Sarnat et al. · Pediatric Neurology · 2021 · 17 citations · Full text

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study

Farrah Rajabi, Frances Rohr, Ann Wessel et al. · Molecular Genetics and Metabolism · 2019 · 15 citations

Medicine, Genetics, Inherited Metabolic Disease +6