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Author Details

Neil A Hanchard
Baylor College of Medicine.
1998
82
26
PMIDPaper TitleJournal TitlePublished Year
36576133Promoting Pharmacogenomics in Africa: Perspectives From Variation in G6PD and Other Pharmacogenes.Clin Pharmacol Ther2023
37790351Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome.medRxiv2023
37924809RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.Am J Hum Genet2023
37333260A first-generation genome-wide map of correlated DNA methylation demonstrates highly coordinated and tissue-independent clustering across regulatory regions.Res Sq2023
34562088Pressure-Mediated Reflection Spectroscopy Criterion Validity as a Biomarker of Fruit and Vegetable Intake: A 2-Site Cross-Sectional Study of 4 Racial or Ethnic Groups.J Nutr2022
35576571Five Priorities of African Genomics Research: The Next Frontier.Annu Rev Genomics Hum Genet2022
35690058Tailored community engagement to address the genetics diversity gap.Med2022
35513726Polygenic risk scores for CARDINAL study.Nat Genet2022
36434853Editorial overview: Congenital cardiovascular disease.Curr Opin Genet Dev2022
36212110Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships.HGG Adv2022
36055208Addressing underrepresentation in genomics research through community engagement.Am J Hum Genet2022
360551971000 Genomes Project phase 4: The gift that keeps on giving.Cell2022
35121658A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein C.Proc Natl Acad Sci U S A2022
35030356One-carbon metabolism in children with marasmus and kwashiorkor.EBioMedicine2022
34906496Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.Genet Med2022
33001864Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.J Clin Invest2021
33741997Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression.NPJ Genom Med2021
33846614Author Correction: High-depth African genomes inform human migration and health.Nature2021
33606984"Iron"ing out hemophagocytosis through PIEZO1.Cell2021
34512729Exome Sequencing Reveals a Putative Role for HLA-C*03:02 in Control of HIV-1 in African Pediatric Populations.Front Genet2021
34450031COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.Am J Hum Genet2021
34559564Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor.Sci Adv2021
34041744CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.Epilepsia2021
32371920Biases in arginine codon usage correlate with genetic disease risk.Genet Med2020
32415109Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.Nat Commun2020
30636638The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report.J Med Case Rep2019
31857576Edematous severe acute malnutrition is characterized by hypomethylation of DNA.Nat Commun2019
31290619Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.Am J Med Genet A2019
31231425Hydroxyurea-Induced miRNA Expression in Sickle Cell Disease Patients in Africa.Front Genet2019
30992551Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.Genet Med2019
30961659Novel parent-of-origin-specific differentially methylated loci on chromosome 16.Clin Epigenetics2019
30622330Genetic architecture of laterality defects revealed by whole exome sequencing.Eur J Hum Genet2019
29290338Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.Am J Hum Genet2018
30053402First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.Clin Chim Acta2018
29961569De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.Am J Hum Genet2018
30578281A locus on chromosome 5 shows African ancestry-limited association with alloimmunization in sickle cell disease.Blood Adv2018
30349862Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females.Ann Clin Transl Neurol2018
29706352Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.Am J Hum Genet2018
29210071Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition.Transfusion2018
27657687Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genet Med2017
28383545The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists.Genet Med2017
28973083Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.JAMA Pediatr2017
29089047Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Genome Med2017
28823629Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.Pediatr Neurol2017
28653806Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.Am J Med Genet A2017
26805781Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.Am J Hum Genet2016
27616478Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.Am J Hum Genet2016
27900368Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Cold Spring Harb Mol Case Stud2016
27354937Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease.Appl Transl Genom2016
26992325Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.Mol Genet Metab2016
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Collaborators

James R Lupski
Baylor College of Medicine
Co-authored papers 15
John W Belmont
Baylor College of Medicine
Co-authored papers 13
Donna M Muzny
Baylor College of Medicine
Co-authored papers 12
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 12
Mahshid S Azamian
Co-authored papers 9
Seema R Lalani
Co-authored papers 8
Colin A McKenzie
Co-authored papers 8
Shalini N Jhangiani
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Co-authored papers 7
Pengfei Liu
Co-authored papers 6
Ambroise Wonkam
University of Cape Town
Co-authored papers 6
Yaping Yang
Baylor College of Medicine
Co-authored papers 6
Jeffrey A Towbin
University of Tennessee Health Science Center
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Makerere University.
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Zeynep Coban Akdemir
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Weimin Bi
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Nicola Mulder
University of Cape Town
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Eric Boerwinkle
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The University of Texas at Austin Dell Medical School
Co-authored papers 3
Gift D Pule
University of Cape Town
Co-authored papers 3
Adebowale Adeyemo
Center for Research on Genomics and Global Health, National Institutes of Health
Co-authored papers 3
Gerald Mboowa
the Infectious Diseases Institute, College of Health Sciences, Makerere University
Co-authored papers 3
Bamidele O Tayo
Loyola University Medical Center.
Co-authored papers 3
Solomon F Ofori-Acquah
Pittsburgh Heart Lung and Blood Vascular Medicine Institute, University of Pittsburgh
Co-authored papers 3
Arthur L Beaudet
Baylor College of Medicine
Co-authored papers 3
Daniel J Penny
Baylor College of Medicine and Texas Children's Hospital.
Co-authored papers 3
Terrence Forrester
Co-authored papers 3
Maria H Chahrour
Co-authored papers 2
Release 1.2