Publications by authors named "Alyssa Ritter"

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Electrocardiographic Findings in Genotype-Positive and Non-sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers.
Priyanka Anvekar, Paul Stephens, Renzo J C Calderon-Anyosa, Hunter L Kauffman, Danielle S Burstein, Alyssa L Ritter

Pediatr Cardiol· December 2024

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Cell non-autonomous signaling through the conserved C. elegans glycoprotein hormone receptor FSHR-1 regulates cholinergic neurotransmission.
Morgan Buckley, William P Jacob, Letitia Bortey, Makenzi E McClain, Alyssa L Ritter

PLoS Genet· November 2024

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Cell non-autonomous signaling through the conserved glycopeptide hormone receptor FSHR-1 regulates cholinergic neurotransmission.
Morgan Buckley, William P Jacob, Letitia Bortey, Makenzi McClain, Alyssa L Ritter

bioRxiv· February 2024

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Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Alyssa Ritter

Circ Genom Precis Med· April 2023

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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Alyssa Ritter

Sci Adv· April 2023

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Alyssa Ritter

Am J Hum Genet· March 2023

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Alyssa Ritter

Am J Hum Genet· January 2023

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Consolidation of the clinical and genetic definition of a related neurodevelopmental syndrome.
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard

J Med Genet· November 2022

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Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.
Yukiko Kuroda, Alyssa Ritter, Sureni V Mullegama, Kosuke Izumi

Am J Med Genet A· October 2022

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MYH7 variants cause complex congenital heart disease.
Alyssa Ritter, Jacqueline Leonard, Christopher Gray, Kosuke Izumi, Katharine Levinson

Am J Med Genet A· September 2022

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Expanding the phenotypic spectrum of ARCN1-related syndrome.
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke

Genet Med· June 2022

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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Smitha Kumble, Amanda M Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Alyssa L Ritter

Hum Mutat· February 2022

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Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.
Hana Alharbi, Xinying Hong, Alyssa Ritter, Rebecca Ahrens-Nicklas, Stephen R Master

Clin Chem· February 2022

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Proteopedia entry: Structure of complex membrane proteins solved using cryo-electron microscopy.
R Jeremy Johnson, Grace Bassler, Emma Harris, Ryan Heumann, Abby Hillan, Alyssa Ritter

Biochem Mol Biol Educ· September 2021

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Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.
Hunter Kauffman, Rebecca C Ahrens-Nicklas, Renzo J C Calderon-Anyosa, Alyssa L Ritter, Kimberly Y Lin

Pediatr Res· August 2021

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina Gold, Dong Li, Alyssa Ritter

Am J Med Genet A· June 2021

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, Sarah J Goodman, Michelle T Siu, Alyssa Ritter

Am J Hum Genet· June 2021

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Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.
Danielle S Burstein, J William Gaynor, Heather Griffis, Alyssa Ritter, Matthew J O' Connor

Pediatr Res· May 2021

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Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
Alyssa Ritter, Justin H Berger, Matthew Deardorff, Kosuke Izumi, Kimberly Y Lin

Am J Med Genet A· January 2021

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EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena, Alyssa Ritter

Am J Med Genet A· December 2020

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The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, Vikas Bhambhani, Amy Calhoun, Alyssa Ritter

Am J Med Genet A· September 2020

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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, Alyssa L Ritter

Genet Med· August 2020

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NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.
Alyssa Ritter, Petra Werner, Brande Latney, Bryon L Krock, Avni Santani

Am J Med Genet A· June 2020

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Interstitial 4q Deletion Syndrome Including Causing Pseudohypoaldosteronism.
Amanda Barone Pritchard, Alyssa Ritter, Hutton M Kearney, Kosuke Izumi

Mol Syndromol· January 2020

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Sarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, Mathieu Quesnel-Vallières, Katsunori Fujiki

Am J Hum Genet· November 2019

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