William J. Craigen

Baylor College of Medicine — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

61h-index14.9kcitations204works8.22yr avg
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Research Topics

Mitochondrial Function and Pathology(75), Metabolism and Genetic Disorders(54), Genomics and Rare Diseases(35), ATP Synthase and ATPases Research(24), Genetics and Neurodevelopmental Disorders(23)

Publications199 total

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs)
Molecular Genetics and Metabolism·2025· 1 cited
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Nature Communications·2025· 2 citedOpen Access
Variants in <i>DENND2B</i> are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
Brain·2025· 1 citedOpen Access
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
Frontiers in Genetics·2025· 2 citedOpen Access
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
Genetics in Medicine·2024· 2 citedOpen Access
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine·2024· 32 citedOpen Access
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
The American Journal of Human Genetics·2024· 22 citedOpen Access
De novo variants in DENND5B cause a neurodevelopmental disorder
The American Journal of Human Genetics·2024· 8 citedOpen Access
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
Proceedings of the National Academy of Sciences·2024· 6 citedOpen Access
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
BMC Genomics·2024Open Access
Macrocephaly and developmental delay caused by missense variants in RAB5C
Human Molecular Genetics·2023· 4 citedOpen Access
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
The American Journal of Human Genetics·2023· 5 citedOpen Access
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
The Journal of Pediatrics·2023· 6 citedOpen Access
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Genetics in Medicine·2023· 7 citedOpen Access
Barriers to a successful healthcare transition for individuals with urea cycle disorders
Molecular Genetics and Metabolism·2023· 1 citedOpen Access
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
The American Journal of Human Genetics·2023· 33 citedOpen Access
Participation in a national diagnostic research study: assessing the patient experience
Orphanet Journal of Rare Diseases·2023· 5 citedOpen Access
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
Genetics in Medicine·2023· 5 citedOpen Access
<scp><i>PAK1</i></scp> c.<scp>1409 T</scp> &gt; a (p. <scp>Leu470Gln</scp>) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature
American Journal of Medical Genetics Part A·2023· 7 citedOpen Access
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
npj Genomic Medicine·2023· 16 citedOpen Access
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Frequent Co-authors

Christine M. Eng(14), David R. Adams(14), Carlos A. Bacino(12), Lindsay C. Burrage(12), Hugo J. Bellen(10), Lauren C. Briere(10), Mariska Davids(10), Lisa Emrick(10), Mahshid S. Azamian(9), Brett H. Graham(9), Seema R. Lalani(9), Patrick Allard(9), Ashok Balasubramanyam(9), Alan H. Beggs(9), Gary Clark(9), Cynthia M. Cooper(9), Shweta U. Dhar(9), Cecilia Esteves(9), William A. Gahl(9), Neil A. Hanchard(8)