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Publications by Kyle Retterer
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
American Journal of Human Genetics
Genetics
Diagnostic Outcomes for Genetic Testing of 70 Genes in 8565 Patients With Epilepsy and Neurodevelopmental Disorders
Epilepsia
Neurology
De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Age-Adjusted Association of Homologous Recombination Genes With Ovarian Cancer Using Clinical Exomes as Controls
Hereditary Cancer in Clinical Practice
Oncology
Genetics
Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases
Integrating Healthcare and Research Genetic Data Empowers the Discovery of 49 Novel Developmental Disorders
