Publications by authors named "Richard Person"

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Richard Person

Am J Hum Genet· December 2025

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Richard Person

J Clin Invest· November 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Richard Person

Eur J Hum Genet· May 2025

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Angela Peron, Felice D'Arco, Kimberly A Aldinger, Constance Smith-Hicks, Christiane Zweier, Richard Person

Eur J Hum Genet· March 2025

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A pleiotropic recurrent dominant variant causes a complex multisystemic disease.
Anne Molitor, Alexandre Lederle, Mirjana Radosavljevic, Vinay Sapuru, Megan E Zavorka Thomas, Richard Person

Sci Adv· September 2024

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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Richard Person

Nat Commun· August 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Richard Person

Am J Hum Genet· June 2024

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Xueyang Pan, Alice M Tao, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Richard Person

Am J Hum Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Richard Person

Am J Hum Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Richard Person

Am J Hum Genet· January 2024

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Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy.
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Richard Person

medRxiv· January 2024

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Richard Person

Brain· August 2023

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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Richard Person

Am J Hum Genet· May 2023

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Richard Person

Sci Adv· March 2023

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Rare variants in cause delayed development, intellectual disability, autism, and epilepsy.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Jessica M Pfliger, Jill A Rosenfeld, Richard Person

medRxiv· March 2023

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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of .
Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Richard Person

Neurology· February 2023

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Erratum: Variants in cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Andrew K Sobering, Laura M Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Richard Person

HGG Adv· January 2023

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Phenotypic continuum of NFU1-related disorders.
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Richard Person

Ann Clin Transl Neurol· December 2022

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The different clinical facets of -related neurodevelopmental disorders.
Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Richard Person

Front Cell Dev Biol· December 2022

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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow, Richard Person

Genet Med· October 2022

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny, Richard Person

Am J Med Genet A· September 2022

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Variants in cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Andrew K Sobering, Laura M Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Richard Person

HGG Adv· July 2022

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Richard Person

Am J Hum Genet· May 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Richard Person

Am J Hum Genet· April 2022

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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, Richard Person

Am J Hum Genet· October 2021

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