Megan T. Cho

Research.com Recognitions

• 2025 - Research.com Rising Stars Award

Overview

Best Publications

• Clinical application of whole-exome sequencing across clinical indications.

  Kyle Retterer;Jane Juusola;Megan T. Cho;Patrik Vitazka

  954
  Citations

• High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

  Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  466
  Citations

• Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

  Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  331
  Citations

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Vincenzo Salpietro;Vincenzo Salpietro;Vincenzo Salpietro;Christine L Dixon;Hui Guo;Hui Guo;Oscar D Bello

  244
  Citations

• the usefulness of whole-exome sequencing in routine clinical practice

  Alejandro Iglesias;Kwame Anyane-Yeboa;Julia Wynn;Ashley Wilson

  240
  Citations

• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

  Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  190
  Citations

• Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

  Daniela A. Braun;Jia Rao;Geraldine Mollet;Geraldine Mollet;David Schapiro

  190
  Citations

• Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

  Tamar Harel;Wan Hee Yoon;Caterina Garone;Shen Gu

  174
  Citations

• Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

  Akemi J. Tanaka;Megan T. Cho;Francisca Millan;Jane Juusola

  167
  Citations

• Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

  Simone Martinelli;Oliver H.F. Krumbach;Francesca Pantaleoni;Simona Coppola

  166
  Citations

• Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

  Sheng Chih Jin;Sheng Chih Jin;Sheng Chih Jin;Sara A. Lewis;Sara A. Lewis;Somayeh Bakhtiari;Somayeh Bakhtiari;Xue Zeng;Xue Zeng

  163
  Citations

• A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

  Vincenzo A. Gennarino;Vincenzo A. Gennarino;Elizabeth E. Palmer;Elizabeth E. Palmer;Laura M. McDonell;Li Wang;Li Wang

  119
  Citations

• The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

  Michael D. Fountain;Emmelien Aten;Megan T. Cho;Jane Juusola

  114
  Citations

• Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

  Payam Mohassel;Sandra Donkervoort;Museer A. Lone;Matthew Nalls

  113
  Citations

• De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

  Sébastien Küry;Thomas Besnard;Frédéric Ebstein;Tahir N. Khan

  104
  Citations

• De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

  Brieana Fregeau;Bum Jun Kim;Andrés Hernández-García;Valerie K Jordan

  96
  Citations

• Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

  Daniel J. Parente;Caryn Garriga;Berivan Baskin;Ganka Douglas

  94
  Citations

• De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

  Jung-Hyun Kim;Deepali N. Shinde;Margot R.F. Reijnders;Natalie S. Hauser

  94
  Citations

• Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

  Christiane K. Bauer;Paolo Calligari;Francesca Clementina Radio;Viviana Caputo

  86
  Citations

• Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

  Kezhi Yan;Justine Rousseau;Rebecca Okashah Littlejohn;Courtney Kiss

  86
  Citations