Publications by authors named "Alyssa Blesson"

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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
James Chettle, Raymond J Louie, Olivia Larner, Robert Best, Kevin Chen, Alyssa Blesson

HGG Adv· October 2024

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Expansion of the Genotypic and Phenotypic Spectrum of -Related Syndromic Neurodevelopmental Disorder.
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, Abigail Sveden, Sonal Mahida

Genes (Basel)· March 2024

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The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain

Cold Spring Harb Mol Case Stud· December 2023

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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, Alyssa E Blesson

Am J Hum Genet· August 2023

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, Rauan Kaiyrzhanov, Matias Wagner, Alyssa Blesson

Am J Hum Genet· October 2021

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The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.
Boudewien A Brand, Alyssa E Blesson, Constance L Smith-Hicks

Brain Sci· July 2021

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Alyssa Blesson

Eur J Hum Genet· October 2020

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Genetic Counseling in Neurodevelopmental Disorders.
Alyssa Blesson, Julie S Cohen

Cold Spring Harb Perspect Med· April 2020

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D Bello, Jana Vandrovcova, Alyssa Blesson

Nat Commun· July 2019

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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson

Genome Med· August 2017

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