Nina N Powell-Hamilton, MD

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors; American Journal of Neuroradiology; (2022).

Inherited intragenic PBX1 deletion: Expanding the phenotype; American Journal of Medical Genetics, Part A; (2021).

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome; Molecular Psychiatry; (2021).

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.; American journal of medical genetics. Part A; (2021).

Newborn Screening; Gomella's Neonatology: Management, Procedures, On-Call Problems, Diseases and Drugs; (2020).

Multiple Congenital Anomalies: Syndromes, Sequences and Associations; Gomella's Neonatology: Management, Procedures, On-Call Problems, Diseases and Drugs, 8th Edition; (2020).

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients; Science Advances; (2020).

Genetic and Genomic Testing in the Newborn Period; Gomella's Neonatology: Management, Procedures, On-Call Problems, Diseases and Drugs, 8th Edition; (2020).

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome; bioRxiv; (2019).

HUWE1 variants cause dominant X-linked intellectual disability: A clinical study of 21 patients; European Journal of Human Genetics; (2018).

Chromosome and Gene Anomalies ; The Merck Manual of Diagnosis and Therapy 20th Edition; (2018).

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations; American Journal of Human Genetics; (2017).

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders; Genome medicine; (2017).

Maternal uniparental disomy of chromosome 20: A novel imprinting disorder of growth failure; Genetics in Medicine; (2016).

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair; American Journal of Medical Genetics, Part A; (2016).

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations; Journal of Neuropathology and Experimental Neurology; (2014).