Richard A. Person

发表

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

N. Brown, B. D. de Vries, W. Chung, 2021, American journal of medical genetics. Part A.

The different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Low levels of serum elastase are not associated with mutations in ELA-2 elastase encoding gene in chronic idiopathic neutropenia.

M. Horwitz, H. Papadaki, G. Eliopoulos, 2003, Blood.

The Eider Pass at Point Barrow, Alaska

Richard A. Person, Daniel Q. Thompson, R. Person, 1963 .

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Lisa A. Lansdon, O. Devinsky, R. Jech, 2023, American journal of human genetics.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

M. King, B. Fernandez, Ming K. Lee, 2001, Human molecular genetics.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Phenotypic continuum of NFU1 ‐related disorders

J. Ganesh, H. Galehdari, S. Efthymiou, 2022, Annals of clinical and translational neurology.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

N. Brown, B. D. de Vries, W. Chung, 2022, American journal of medical genetics. Part A.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.