Irina Anselm

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

David T. Miller, Yiping Shen, Lauren A. Weiss et al. · Journal of Medical Genetics · 2008 · 429 citations

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 159 citations · Full text

Angelman syndrome: Mutations influence features in early childhood

Wen‐Hann Tan, Carlos A. Bacino, Steven A. Skinner et al. · American Journal of Medical Genetics Part A · 2010 · 129 citations · Full text

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 108 citations · Full text

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 107 citations · Full text

Neurodevelopmental Disorders, Atpase Module, Developmental Anomaly +12