Kandamurugu Manickam

发表

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Marylyn D. Ritchie, Alan R. Shuldiner, Laney K. Jones, 2016, Science.

Saturation mutagenesis defines novel mouse models of severe spine deformity.

J. Rosenfeld, B. Beutler, C. Wise, 2021, Disease models & mechanisms.

Exome 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)

Danny E Miller, T. Yu, H. Kearney, 2021, Genetics in Medicine.

Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records

M. Murray, K. Manickam, J. Stamm, 2019, npj Genomic Medicine.

Institutional Profile: Program in Pharmacogenomics at the Ohio State University Medical Center

Joseph P Kitzmiller, Peter J Embi, Kandamurugu Manickam, 2012 .

Exploring the Weight and Health Status of Adults with Down Syndrome

S. Havercamp, K. Manickam, B. Benson, 2017 .

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

N. Brown, A. Hamosh, K. Flanigan, 2016, Brain : a journal of neurology.

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, Nature Communications.

Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes

D. Koboldt, R. Hegele, S. Farhan, 2022, Human mutation.

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Matthew S. Lebo, Daniel R. Lavage, Dustin N. Hartzel, 2018, JAMA network open.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, American journal of medical genetics. Part A.

Psychiatric Conditions Prevalent Among Adults With Down Syndrome

S. Havercamp, K. Manickam, P. Macho, 2016 .

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kandamurugu Manickam, Thomas W Prior, J. Atkin, 2010, Autism research : official journal of the International Society for Autism Research.

A pediatric perspective on genomics and prevention in the twenty-first century

K. McBride, K. Manickam, B. Chaudhari, 2019, Pediatric Research.

Validation of My Family Health Portrait for six common heritable conditions

Leslie G Biesecker, Kandamurugu Manickam, Neal Oden, 2010, Genetics in Medicine.

Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”

A. Sturm, K. Manickam, Kandamurugu Manickam, 2012, Journal of Genetic Counseling.

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Dustin N. Hartzel, D. Ledbetter, F. Dewey, 2016, Science.

Implementation of a clinical research pharmacogenomics program at an academic medical center: role of the genetics healthcare professional.

A. Sturm, K. Sweet, K. Manickam, 2013, Pharmacogenomics.

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Overcoming Challenges of Real‐World Implementation

Kristin A. Maloney, R. Altman, M. Relling, 2013, Clinical pharmacology and therapeutics.

Design and Implementation of a Randomized Controlled Trial of Genomic Counseling for Patients with Chronic Disease

P. Binkley, W. Sadee, P. Embí, 2014, Journal of personalized medicine.

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

Matthew S. Lebo, Marc S. Williams, D. Ledbetter, 2017, bioRxiv.

Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program

Dustin N. Hartzel, Marc S. Williams, M. Murray, 2020, Journal of personalized medicine.

DNA-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)

D. L. Doyle, M. Watson, E. Lyon, 2021, Genetics in Medicine.

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Matthew S. Lebo, Audrey L. Fan, Marc S. Williams, 2017, Genetics in Medicine.

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Maeson S. Latsko, E. Zackai, D. Koboldt, 2023, bioRxiv.

ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.

Elizabeth M Webber, Elizabeth M. Webber, Charisma L. Jenkins, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Medication therapy disease management: Geisinger's approach to population health management.

Laney K. Jones, M. Murray, J. Graham, 2017, American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

Healthcare Utilization and Patients’ Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia: A Pilot Study

Laney K. Jones, S. Pendergrass, M. Murray, 2018, Circulation. Genomic and precision medicine.

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

C. Di Lorenzo, S. Kaler, R. T. Hagelstrom, 2022, JPGN reports.

A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype

P. Rosenberg, M. Murray, D. Carey, 2021, JAMA network open.

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

R. Wilson, D. Koboldt, D. Bartholomew, 2022, Cold Spring Harbor molecular case studies.

Impact of Previous Genetic Counseling and Objective Numeracy on Accurate Interpretation of a Pharmacogenetics Test Report

A. Toland, R. Pilarski, K. Manickam, 2021, Public Health Genomics.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

Proceedings from the 9th annual conference on the science of dissemination and implementation

Caitlin N. Dorsey, Robert D. Lieberthal, Julie E. Reed, 2017, Implementation Science.