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Genetics

D-Index
81
Citations
22503
World Ranking
1531
National Ranking
715

Overview

William J. Craigen is affiliated with Baylor College of Medicine in the United States and has contributed extensively to the fields of biochemistry, genetics, and molecular biology. Their research primarily covers molecular biology, genetics, clinical biochemistry, cell biology, and cancer research, with a strong focus on genomics and rare diseases, mitochondrial function and pathology, metabolism and genetic disorders, RNA modifications and cancer, genetics and neurodevelopmental disorders, RNA research and splicing, and genomic variations and chromosomal abnormalities.

The scientist has published numerous papers in several key venues. Frequent publication venues include Genetics in Medicine, The American Journal of Human Genetics, Brain, Molecular Genetics and Metabolism, and Proceedings of the National Academy of Sciences.

Some of the recent papers authored or co-authored by William J. Craigen are:

  • Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing (2020, Journal of Clinical Investigation)
  • De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism (2020, The American Journal of Human Genetics)
  • De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation (2020, The American Journal of Human Genetics)
  • Interpretation of mitochondrial tRNA variants (2020, Genetics in Medicine)
  • Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder (2020, Brain)

William J. Craigen collaborates frequently with several researchers, including:

  • Lindsay C. Burrage
  • Carlos A. Bacino
  • Gary Clark
  • Hsiao-Tuan Chao
  • Heidi Cope

The scientist's work predominantly intersects with the study of genomics and rare diseases, mitochondrial function, metabolism, RNA biology, and neurodevelopmental disorders. Their extensive publication record demonstrates a continued focus on advancing knowledge in these areas through research involving molecular mechanisms, genetic variants, and diagnostic approaches.

Best Publications

  • Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu

  • VDAC2 inhibits BAK activation and mitochondrial apoptosis.

    Emily H.-Y. Cheng;Tatiana V. Sheiko;Jill K. Fisher;William J. Craigen

  • Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death.

    Christopher P. Baines;Robert A. Kaiser;Tatiana Sheiko;William J. Craigen

  • Clinical Characterization of Left Ventricular Noncompaction in Children A Relatively Common Form of Cardiomyopathy

    Ricardo H. Pignatelli;Colin J. McMahon;William J. Dreyer;Susan W. Denfield

  • Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

    Marwan Shinawi;Pengfei Liu;Sung Hae L Kang;Joseph Shen

  • Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients with Mitochondrial Disease

    Fernando Scaglia;Jeffrey A Towbin;Jeffrey A Towbin;William J Craigen;William J Craigen;John W Belmont;John W Belmont

  • Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

    Seema R. Lalani;Arsalan M. Safiullah;Susan D. Fernbach;Karine C. Harutyunyan

  • Serum leptin level is a regulator of bone mass

    F. Elefteriou;S. Takeda;S. Takeda;K. Ebihara;J. Magre

  • Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

    Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  • Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

    Lucia Bartoloni;Jean-Louis Blouin;Yanzhen Pan;Corinne Gehrig

  • Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2.

    W J Craigen;R G Cook;W P Tate;C T Caskey

  • Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.

    John L. Jefferies;Benjamin W. Eidem;John W. Belmont;William J. Craigen

  • Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

    Daniela del Gaudio;Ping Fang;Fernando Scaglia;Patricia A Ward

  • Properties of the permeability transition in VDAC1 / mitochondria

    Alexandra Krauskopf;Ove Eriksson;William J. Craigen;Michael A. Forte

  • Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

    Philippa B. Mills;Emma J. Footitt;Kevin A. Mills;Karin Tuschl

  • Mitochondrial DNA maintenance defects.

    Ayman W. El-Hattab;William J. Craigen;Fernando Scaglia

  • Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3.

    Margaret J. Sampson;William K. Decker;Arthur L. Beaudet;Wim Ruitenbeek

  • The Murine Voltage-dependent Anion Channel Gene Family CONSERVED STRUCTURE AND FUNCTION

    Margaret J. Sampson;Rhonda S. Lovell;William J. Craigen

  • The Role of Mitochondrial Porins and the Permeability Transition Pore in Learning and Synaptic Plasticity

    Edwin J. Weeber;Michael Levy;Margaret J. Sampson;Keltoum Anflous

  • Mouse VDAC Isoforms Expressed in Yeast: Channel Properties and Their Roles in Mitochondrial Outer Membrane Permeability

    X Xu;W K Decker;M J Sampson;William J Craigen

Frequent Co-Authors

Brett H. Graham
Brett H. Graham Baylor College of Medicine
Lee-Jun C. Wong
Lee-Jun C. Wong Baylor College of Medicine
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
Brendan Lee
Brendan Lee Baylor College of Medicine
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
John W. Belmont
John W. Belmont Baylor College of Medicine
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Daryl A. Scott
Daryl A. Scott Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine

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