Author

Alyssa Blesson

Observed names: Alyssa E Blesson, Alyssa E. Blesson, Blesson, Alyssa

Institution: Kennedy Krieger Institute

Observed institutions: Kennedy Krieger Institute, Alfred I. duPont Hospital for Children, Center for Autism and Related Disorders

ORCID: 0000-0002-8954-9387

Observed ORCID: 0000-0002-8954-9387

OpenAlex ID: A5058517659

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

2019 · Vincenzo Salpietro, Christine L. Dixon, et al. · Nature Communications · 257

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

2017 · Members of the Undiagnosed Diseases Network, Bret L. Bostwick, et al. · Genome Medicine · 74

Genetic Counseling in Neurodevelopmental Disorders

2019 · Alyssa Blesson, Julie S. Cohen · Cold Spring Harbor Perspectives in Medicine · 68

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

2020 · Theodore G. Drivas, Dong Li, et al. · European Journal of Human Genetics · 51

The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders

2021 · Boudewien A Brand, Alyssa E Blesson, et al. · Brain Sciences · 46

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

2021 · Elodie M. Richard, Somayeh Bakhtiari, et al. · The American Journal of Human Genetics · 34

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

2023 · Eva Niggl, Arjan Bouman, et al. · The American Journal of Human Genetics · 24

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

2024 · Ineke Cordova, Alyssa Blesson, et al. · Genes · 13

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

2024 · James Chettle, Raymond J. Louie, et al. · Human Genetics and Genomics Advances · 6

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature

2023 · Daniah Albokhari, Ohood Alharbi, et al. · Molecular Case Studies · 5

Additional file 1: Table S1. of Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

2017 · Bostwick, Bret, McLean, Scott, et al. · Figshare

Works count: 12

Citation count: 578

H-index: 8

I10-index: 8