Professor, Molecular and Human Genetics, Baylor College of Medicine
Pediatrics
Dr. William Craigen, MD
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William Craigen practices Pediatrics. He went to Baylor College of Medicine. He received awards:"America's Top Doctors" and "Top Doctors:SE Texas". Doctor William Craigen, MD is a published physician as well. He has 100 publications published. The latest was: Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia.
Publications
- Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
- Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.
- Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
- The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism.
- Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
- Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
- Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome.
- The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.
- Screen for abnormal mitochondrial phenotypes in mouse ES cells identifies model for Succinyl-CoA Ligase deficiency and mtDNA depletion.
- Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance.
- Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
- Reduced VDAC1 Protects Against Alzheimer's Disease, Mitochondria, and Synaptic Deficiencies.
- Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
- Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
- Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.
- Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
- Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis.
- Each mammalian mitochondrial outer membrane porin protein is dispensable: effects on cellular respiration.
- Isoform-specific imprinting of the human PEG1/MEST gene.
- Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q.
- The tissue-specific, alternatively spliced single ATG exon of the type 3 voltage-dependent anion channel gene does not create a truncated protein isoform in vivo.
- Induction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice.
- Cloning and expression of a mammalian peptide chain release factor with sequence similarity to tryptophanyl-tRNA synthetases.
- Recent advances in peptide chain termination.
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.
- Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice.
- The 5' flanking region of the ornithine transcarbamylase gene contains DNA sequences regulating tissue-specific expression.
- Rapid and precise mapping of the Escherichia coli release factor genes by two physical approaches.
- The function, structure and regulation of E. coli peptide chain release factors.
- Translational frameshifting: where will it stop?
- Expression of peptide chain release factor 2 requires high-efficiency frameshift.
- Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2.
- Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.
- Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
- Altered mitochondrial sensitivity for ADP and maintenance of creatine-stimulated respiration in oxidative striated muscles from VDAC1-deficient mice.
- Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3.
- Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis.
- Serum leptin level is a regulator of bone mass.
- Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
- PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
- D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.
- A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.
- Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
- Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
- Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax.
- Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
- Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
- Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?
- PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.
- VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria.
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
- Novel cardiac findings in periventricular nodular heterotopia.
- Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon...
- MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
- OEIS complex associated with chromosome 1p36 deletion: a case report and review.
- Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease.
- Current molecular diagnostic algorithm for mitochondrial disorders.
- Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
- Inhibition of Bak activation by VDAC2 is dependent on the Bak transmembrane anchor.
- VDAC3 has differing mitochondrial functions in two types of striated muscles.
- Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.
- Genetic disorders with both hearing loss and cardiovascular abnormalities.
- Animal models of glycogen storage disorders.
- Dilation of the aortic root in mitochondrial disease patients.
- Left ventricular noncompaction in Sotos syndrome.
- Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
- Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.
- Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.
- Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
- Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
- Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
- Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.
- Mitochondrial DNA mutations: an overview of clinical and molecular aspects.
- Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions.
- A maxi-chloride channel in the inner membrane of mammalian mitochondria.
- Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
- Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1.
- Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death.
- Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
- D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?
- Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia.
- A mouse model of argininosuccinic aciduria: biochemical characterization.
- Mitochondrial regulation of synaptic plasticity in the hippocampus.
- Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
- Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark.
- VDAC2 inhibits BAK activation and mitochondrial apoptosis.
- Neuroactive steroid interactions with voltage-dependent anion channels: lack of relationship to GABA(A) receptor modulation and anesthesia.
- Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.
- The physiological properties of a novel family of VDAC-like proteins from Drosophila melanogaster.
- Genetic approaches to analyzing mitochondrial outer membrane permeability.
- Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.
- Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
- Voltage-dependent anion channel-1 (VDAC-1) contributes to ATP release and cell volume regulation in murine cells.
- Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
- SNP genotyping to screen for a common deletion in CHARGE syndrome.
- Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression.
- Tissue-dependent alterations in lipid mass in mice lacking glycerol kinase.
- New insights into the mechanism of permeation through large channels.
Schools
Baylor College Of Medicine
Bcm
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
Accepted Insurances
Awards
- America's Top Doctors
- Top Doctors:SE Texas
Education
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Baylor College of Medicine
Hospital
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Texas Children's Hospital -
Baylor St. Luke's Medical Center -
Harris Health System
