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Genetics

D-Index
58
Citations
25575
World Ranking
3287
National Ranking
126

Overview

Bridget A. Fernandez is affiliated with Memorial University of Newfoundland in Canada. Their research focuses primarily on the fields of Biochemistry, Genetics and Molecular Biology, with a total of 21 publications, and Neuroscience, in which they have contributed 9 works.

The scientist specializes in several subfields, including Genetics, Cognitive Neuroscience, Molecular Biology, Pediatrics, Perinatology and Child Health, and Cardiology and Cardiovascular Medicine. The topics covered extensively in their research include Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, RNA and protein synthesis mechanisms, as well as Genetic Neurodegenerative Diseases.

Recent papers authored or co-authored by Bridget A. Fernandez include:

  • Genome-wide detection of tandem DNA repeats that are expanded in autism, 2020, Nature
  • Genomic architecture of autism from comprehensive whole-genome sequence annotation, 2022, Cell
  • Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder, 2022, Nature Communications
  • A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features, 2020, Scientific Reports
  • Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees, 2020, American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Frequent co-authors collaborating with Fernandez include:

  • Jennifer Howe
  • Stephen W. Scherer
  • Bhooma Thiruvahindrapuram
  • Evdokia Anagnostou
  • Ryan K. C. Yuen

The scientist has published in several venues, with multiple publications in bioRxiv (Cold Spring Harbor Laboratory) and UNC Libraries, and individual works featured in Nature, Cell, and Nature Communications.

Best Publications

  • Synaptic, transcriptional and chromatin genes disrupted in autism

    Silvia De Rubeis;Xin-Xin He;Arthur P Goldberg;Christopher S. Poultney

  • Functional impact of global rare copy number variation in autism spectrum disorders

    Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

  • Structural variation of chromosomes in autism spectrum disorder.

    Christian R. Marshall;Abdul Noor;John B. Vincent;Anath C. Lionel

  • Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa

  • Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada

    Philippe De Wals;Fassiatou Tairou;Margot I. Van Allen;Soo Hong Uh

  • Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

    Ryan K C Yuen;Daniele Merico;Matt Bookman;Jennifer L. Howe

  • Contribution of SHANK3 Mutations to Autism Spectrum Disorder

    Rainald Moessner;Christian R. Marshall;James S. Sutcliffe;Jennifer Skaug

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • A genome-wide scan for common alleles affecting risk for autism

    Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan

  • Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond

    Samantha Hansford;Pardeep Kaurah;Hector Li-Chang;Michelle Woo

  • Whole-genome sequencing of quartet families with autism spectrum disorder

    Ryan K C Yuen;Bhooma Thiruvahindrapuram;Daniele Merico;Susan Walker

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer

    Pardeep Kaurah;Andrée MacMillan;Niki Boyd;Janine Senz

  • Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

    Kristiina Tammimies;Kristiina Tammimies;Christian R. Marshall;Susan Walker;Gaganjot Kaur

  • Individual common variants exert weak effects on the risk for autism spectrum disorders.

    Richard Anney;Lambertus Klei;Dalila Pinto;Dalila Pinto;Joana Almeida

  • Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

    Anath C. Lionel;Jennifer Crosbie;Nicole Barbosa;Tara Goodale

  • Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

    S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  • SHANK1 Deletions in Males with Autism Spectrum Disorder

    Daisuke Sato;Anath C. Lionel;Anath C. Lionel;Claire S. Leblond;Claire S. Leblond;Claire S. Leblond;Aparna Prasad

  • Founder and Recurrent CDH1 mutations in families with Hereditary diffuse gastric Cancer. Editorial

    Pardeep Kaurah;Andrée Macmillan;Niki Boyd;Janine Senz

  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

    Dalila Pinto;Elsa Delaby;Daniele Merico;Mafalda Barbosa

Frequent Co-Authors

Stephen W. Scherer
Stephen W. Scherer University of Toronto
Peter Szatmari
Peter Szatmari University of Toronto
Christian R. Marshall
Christian R. Marshall University of Toronto
Wendy Roberts
Wendy Roberts University of Toronto
Lonnie Zwaigenbaum
Lonnie Zwaigenbaum University of Alberta
Dalila Pinto
Dalila Pinto Icahn School of Medicine at Mount Sinai
Catalina Betancur
Catalina Betancur Sorbonne University
Jane Green
Jane Green Memorial University of Newfoundland
Geraldine Dawson
Geraldine Dawson Duke University
Edwin H. Cook
Edwin H. Cook University of Illinois at Chicago

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