Publications by authors named "Sonal Mahida"

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Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.
Nora C Callahan, Sonal Mahida, Abigail Sveden, Meg Quinn, Maya Chopra

Clin Genet· September 2025

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Missense variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.
Emanuela Argilli, Caleb Yang, Carolyn Le, Amanda M Elashoff, Kendall C Parks, Sonal Mahida

medRxiv· May 2025

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RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylène Le Meur, Sonal Mahida

Genet Med· April 2025

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CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype.
Ivan Ruiz, Kimberly Wiltrout, Coral Stredny, Sonal Mahida

Genes (Basel)· October 2024

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Clinical variants paired with phenotype: A rich resource for brain gene curation.
Maya Chopra, Juliann M Savatt, Taylor I Bingaman, Molly E Good, Alexis Morgan, Sonal Mahida

Genet Med· March 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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Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy.
Devon Knight, Sonal Mahida, Mckenna Kelly, Annapurna Poduri, Heather E Olson

Epilepsia· July 2023

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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, Archana Podury, Nitish Chourasia, Sonal Mahida

JAMA Netw Open· July 2023

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Sonal Mahida

Brain· June 2023

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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Julian Delanne, Magaly Lecat, Patrick R Blackburn, Eric W Klee, Constance T R M Stumpel, Sonal Mahida

Eur J Med Genet· January 2023

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Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care.
Ashley J Pounders, Gabrielle V Rushing, Sonal Mahida, Bareng Aletta Sanny Nonyane, Emily A Thomas

Ther Adv Rare Dis· December 2022

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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Matthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Sonal Mahida

Brain· October 2022

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De Novo Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Smigiel, Sonal Mahida

Neurology· March 2022

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PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Sonal Mahida

Genet Med· October 2021

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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Sonal Mahida

Genet Med· May 2021

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Sonal Mahida

Hum Mutat· April 2021

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Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
Christopher M McGraw, Sonal Mahida, Parul Jayakar, Hyun Yong Koh, Alan Taylor

Ann Clin Transl Neurol· March 2021

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KCNQ2-DEE: developmental or epileptic encephalopathy?
Anne T Berg, Sonal Mahida, Annapurna Poduri

Ann Clin Transl Neurol· March 2021

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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Hyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, Gerard Bénédicte, Jonathan D Labonne, Sonal Mahida

Mol Autism· June 2020

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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Sonal Mahida

Genet Med· May 2020

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S Bonnet, Peggy Tilly, Sonal Mahida

Nat Commun· May 2020

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Sonal Mahida

Genet Med· April 2020

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, Bernt Popp, Kimberly Foss, Sonal Mahida

Genet Med· March 2020

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Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Anne Rochtus, Heather E Olson, Lacey Smith, Louisa G Keith, Christelle El Achkar, Sonal Mahida

Epilepsia· February 2020

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sonal Mahida

Nat Commun· January 2020

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