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Genetics

D-Index
81
Citations
31121
World Ranking
1504
National Ranking
704

Overview

Heather C. Mefford is affiliated with the University of Washington in the United States. Their research primarily focuses on the fields of Biochemistry, Genetics, and Molecular Biology, with substantial contributions to Medicine. Their work spans several key subfields including Genetics, Molecular Biology, Psychiatry and Mental Health, Cell Biology, and Pediatrics, Perinatology, and Child Health.

The main topics covered in Mefford's research include:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic Variations and Chromosomal Abnormalities
  • Epilepsy Research and Treatment
  • Congenital Heart Defects Research
  • Metabolism and Genetic Disorders
  • Pharmacological Effects and Toxicity Studies

Their recent selected publications highlight a focus on epilepsy and genetic disorders. These include:

  • Targeted long-read sequencing identifies missing disease-causing variation, 2021, The American Journal of Human Genetics
  • Recent advances in epilepsy genomics and genetic testing, 2020, F1000Research
  • The severe epilepsy syndromes of infancy: A population-based study, 2021, Epilepsia
  • ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria, 2021, Brain
  • Developmental and epileptic encephalopathies, 2024, Nature Reviews Disease Primers

Frequently publishing in the following venues, Mefford's work has appeared most often in:

  • Faculty Opinions - Post-Publication Peer Review of the Biomedical Literature
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Epilepsia
  • The American Journal of Human Genetics

Collaboration is a part of Mefford's research approach, with frequent co-authors including:

  • Ingrid E. Scheffer
  • Gemma L. Carvill
  • Lynette G. Sadleir
  • Alison M. Muir
  • Gaëtan Lesca

Best Publications

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  • De novo mutations in epileptic encephalopathies

    Andrew S. Allen;Samuel F. Berkovic;Patrick Cossette;Norman Delanty

  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

    Brian J. O’Roak;Laura Vives;Wenqing Fu;Jarrett D. Egertson

  • SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

    Brett S Abrahams;Dan E Arking;Daniel B Campbell;Heather C Mefford

  • Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Gemma L Carvill;Sinéad B Heavin;Simone C Yendle;Jacinta M McMahon

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  • Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

    Andy Itsara;Gregory M. Cooper;Carl Baker;Santhosh Girirajan

  • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  • A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

    Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  • Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Heather C. Mefford;Hiltrud Muhle;Philipp Ostertag;Sarah von Spiczak

  • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

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

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

  • Genomics, Intellectual Disability, and Autism

    Heather C. Mefford;Mark L. Batshaw;Eric P. Hoffman

  • GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    Gemma L. Carvill;Brigid M. Regan;Simone C. Yendle;Brian J. O'Roak

  • The complex structure and dynamic evolution of human subtelomeres.

    Heather C. Mefford;Barbara J. Trask

  • Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    B W M van Bon;H C Mefford;B Menten;D A Koolen

  • Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    F.D. Hannes;A.J. Sharp;H.C. Mefford;T. de Ravel

Frequent Co-Authors

Thomas D. Bird
Thomas D. Bird University of Washington
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Evan E. Eichler
Evan E. Eichler University of Washington
Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Samuel F. Berkovic
Samuel F. Berkovic University of Melbourne
Lynette G. Sadleir
Lynette G. Sadleir University of Otago
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Sarah Weckhuysen
Sarah Weckhuysen University of Antwerp
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Gaetan Lesca
Gaetan Lesca Claude Bernard University Lyon 1

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