Laurie Demmer

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam, Monica R. McClain, Laurie Demmer et al. · Genetics in Medicine · 2021 · 585 citations · Full text

Developmental Anomaly, Sequencing, Genetic Disorder +7

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Yiping Shen, Kira A. Dies, Ingrid A. Holm et al. · PEDIATRICS · 2010 · 392 citations · Full text

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky et al. · The American Journal of Human Genetics · 2010 · 331 citations · Full text

Rat cellular retinol-binding protein II: use of a cloned cDNA to define its primary structure, tissue-specific expression, and developmental regulation.

E Li, Laurie Demmer, David A. Sweetser et al. · Proceedings of the National Academy of Sciences · 1986 · 140 citations

Crbp Ii, Crbp Ii Gene, Molecular Regulation +18

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15