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Author Details

Kandamurugu Manickam
Nationwide Children's Hospital, The Ohio State University College of Medicine
2010
48
19
PMIDPaper TitleJournal TitlePublished Year
36606440Disorders of Gut-Brain Interaction in a National Cohort of Children With Down Syndrome.J Neurogastroenterol Motil2023
37882146Quality of life measures in children with Down syndrome with disorders of gut-brain interaction.Am J Med Genet C Semin Med Genet2023
37392705Generation of an induced pluripotent stem cell line (NCHi010-A) from a 6-year-old female with Down syndrome and without congenital heart disease.Stem Cell Res2023
37087635Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.Genet Med2023
35026043Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.Hum Mutat2022
35341655ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.Genet Med2022
37168481Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.JPGN Rep2022
35091509Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorder.Cold Spring Harb Mol Case Stud2022
33445171Impact of Previous Genetic Counseling and Objective Numeracy on Accurate Interpretation of a Pharmacogenetics Test Report.Public Health Genomics2021
33630087A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.JAMA Netw Open2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
33727704DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34876591De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.NPJ Genom Med2021
34646007Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Genet Med2021
34211152Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34142127Saturation mutagenesis defines novel mouse models of severe spine deformity.Dis Model Mech2021
31578042A pediatric perspective on genomics and prevention in the twenty-first century.Pediatr Res2020
32028596Healthcare Utilization and Costs after Receiving a Positive <i>BRCA1/2</i> Result from a Genomic Screening Program.J Pers Med2020
31767984Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.Genet Med2020
33204598Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.JIMD Rep2020
32286009Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.Ann Clin Transl Neurol2020
30449888Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.Genet Med2019
31397523Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.Hum Mutat2019
31508243Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.NPJ Genom Med2019
31171569De novo loss-of-function variants in <i>NSD2</i> (<i>WHSC1</i>) associate with a subset of Wolf-Hirschhorn syndrome.Cold Spring Harb Mol Case Stud2019
29261187Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Genet Med2018
30100086A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.Am J Hum Genet2018
30646163Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.JAMA Netw Open2018
30354341Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia.Circ Genom Precis Med2018
27322592EMR documentation of physician-patient communication following genomic counseling for actionable complex disease and pharmacogenomic results.Clin Genet2017
28345121Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports.J Genet Couns2017
28887344Medication therapy disease management: Geisinger's approach to population health management.Am J Health Syst Pharm2017
28043398COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.Pediatr Neurol2017
26888176Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.Nat Commun2016
28008010Genetic identification of familial hypercholesterolemia within a single U.S. health care system.Science2016
27435318Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.BMC Med Genomics2016
26917586EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Brain2016
23632792Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.Eur J Hum Genet2014
24926413Design and implementation of a randomized controlled trial of genomic counseling for patients with chronic disease.J Pers Med2014
24352917Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.Am J Med Genet A2014
23588301The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation.Clin Pharmacol Ther2013
23651015Implementation of a clinical research pharmacogenomics program at an academic medical center: role of the genetics healthcare professional.Pharmacogenomics2013
22302621Direct-to-consumer personal genomic testing: a case study and practical recommendations for ⿿genomic counseling⿝.J Genet Couns2012
22594506Program in pharmacogenomics at the Ohio State University Medical Center.Pharmacogenomics2012
22218741Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.Neurogenetics2012
20533527Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.Autism Res2010
20479646Validation of My Family Health Portrait for six common heritable conditions.Genet Med2010
20683981Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.Am J Med Genet A2010
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Collaborators

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Yale School of Medicine
Co-authored papers 12
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Co-authored papers 9
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Co-authored papers 8
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Co-authored papers 6
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Pengfei Liu
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Peter J Embi
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Shalini N Jhangiani
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Zeynep Coban Akdemir
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Alan R Shuldiner
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Aris Baras
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Matthew Pastore
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