Publications by authors named "Elliot Stolerman"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Elliot Stolerman

Am J Hum Genet· November 2025

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Elliot Stolerman

Nat Genet· November 2025

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Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.
Maxwell B Colonna, Andrzej B Poplawski, Marie N Brzoska, Dionne Le, Natasha L Rudy, Elliot Stolerman

Mol Genet Metab· October 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Elliot S Stolerman

Am J Hum Genet· October 2025

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Elliot Stolerman

EBioMedicine· May 2025

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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Elliot Stolerman

Am J Hum Genet· March 2024

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Elliot Stolerman

Am J Hum Genet· June 2023

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Clinical case report: mosaic pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
Xiaolan Fang, Timothy Fee, Jessica Davis, Elliot S Stolerman, Raymond C Caylor

Cold Spring Harb Mol Case Stud· June 2023

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RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.
Camerun Washington, Elliot S Stolerman, Jessica A Cooley-Coleman, Julie R Jones, Xiangwen Chen-Deutsch

Clin Case Rep· April 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Elliot Stolerman

Am J Hum Genet· February 2023

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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Elliot S Stolerman

Genet Med· December 2022

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coding variants in the gene cause a neurodevelopmental disorder with intellectual disability.
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Elliot Stolerman

J Med Genet· October 2022

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Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in .
Alison M R Castle, Smrithi Salian, Haim Bassan, Efrat Sofrin-Drucker, Raffaella Cusmai, Elliot Stolerman

Neurol Genet· December 2021

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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Jair Antonio Tenorio-Castaño, Pedro Arias, Alberto Fernández-Jaén, Guillermo Lay-Son, Gloria Bueno-Lozano, Elliot S Stolerman

Clin Genet· October 2021

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Elliot S Stolerman

Nat Commun· May 2021

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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, Nazar Mashtalir, Jennifer B Phillips, Elliot Stolerman

Am J Hum Genet· December 2020

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, Elliot Stolerman

Brain· January 2020

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Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Elliot S Stolerman, Elizabeth Francisco, Jennifer L Stallworth, Julie R Jones, Kristin G Monaghan

Am J Med Genet A· July 2019

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CHD8 intragenic deletion associated with autism spectrum disorder.
Elliot S Stolerman, Brooke Smith, Alka Chaubey, Julie R Jones

Eur J Med Genet· April 2016

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The study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes.
Geoffrey A Walford, Natalia Colomo, Jennifer N Todd, Liana K Billings, Marlene Fernandez, Elliot S Stolerman

PLoS One· March 2016

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Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus.
Geoffrey A Walford, Jaclyn Davis, A Sofia Warner, Rachel J Ackerman, Liana K Billings, Elliot Stolerman

Metabolism· December 2013

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Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Nicole Soranzo, Serena Sanna, Eleanor Wheeler, Christian Gieger, Dörte Radke, Elliot Stolerman

Diabetes· December 2010

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Genomics of type 2 diabetes mellitus: implications for the clinician.
Elliot S Stolerman, Jose C Florez

Nat Rev Endocrinol· August 2009

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Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.
Elliot S Stolerman, Alisa K Manning, Jarred B McAteer, Josée Dupuis, Caroline S Fox

Diabetes· July 2008

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