NarasimhanNaganMD

PubMed

• 1 citations
  Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.
  Grant Hogg, Eric A Severson, Li Cai, Heidi M Hoffmann, Kimberly A Holden, Kerry Fitzgerald, Angela Kenyon, Qiandong Zeng, Michael Mooney, Sabrina Gardner, Wenjie Chen,...> ;Cancer Genetics. 2023 Nov 1
• 8 citations
  The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
  Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, An...> ;Genetics in Medicine. 2023 Dec 1
• 32 citations
  Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
  Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine ...> ;Genetics in Medicine. 2019 Jun 4
• 36 citations
  Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
  Steven M. Harrison, Jill S. Dolinksy, Wenjie Chen, Christin D. Collins, Soma Das, Joshua L. Deignan, Kathryn B. Garber, John Garcia, Olga Jarinova, Amy E. Knight Johns...> ;Human Mutation. 2018 Nov 1
• 13 citations
  Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
  Sabrina A. Gardner, Katelyn S. Weymouth, Wei S. Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel S. Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Pa...> ;Hereditary Cancer in Clinical Practice. 2018 Jan 4
• 43 citations
  BRCA Share: A Collection of Clinical BRCA Gene Variants.
  Christophe Béroud, Stanley Letovsky, Corey D. Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves-Jean Bignon, Brigitte Bressac-de Paillerets, Myriam Bronner, Crystal ...> ;Human Mutation. 2016 Dec 1
• Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.
  Linnea M. Baudhuin, Birgit Funke, Lora J. H. Bean, Joshua L. Deignan, Sean E. Hofherr, David T. Miller, Narasimhan Nagan, Avni Santani, Carol J Saunders> ;Clinical Chemistry. 2016 Jun 1
• 20 citations
  Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches
  Thomas W. Prior, Narasimhan Nagan> ;Current Protocols in Human Genetics. 2016 Jan 1
• 65 citations
  Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification
  Wei Song, Sabrina A. Gardner, Hayk Hovhannisyan, Amanda Natalizio, Katelyn S. Weymouth, Wenjie Chen, Ildiko Thibodeau, Ekaterina Bogdanova, Stanley Letovsky, Alecia Wi...> ;Genetics in Medicine. 2016 Aug 1
• 112 citations
  Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
  Iris Schrijver, Nazneen Aziz, Daniel H. Farkas, Manohar R. Furtado, Andrea Ferreira Gonzalez, Timothy C. Greiner, Wayne W. Grody, Tina Hambuch, Lisa V. Kalman, Jeffrey...> ;The Journal of Molecular Diagnostics. 2012 Nov 1
• 402 citations
  Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens
  Elaine A Sugarman, Narasimhan Nagan, Hui Zhu, Viatcheslav R. Akmaev, Zhaoqing Zhou, Elizabeth M. Rohlfs, Kerry Flynn, Brant C. Hendrickson, Thomas Scholl, Deborah Alex...> ;European Journal of Human Genetics. 2012 Jan 1
• 67 citations
  Technical standards and guidelines for spinal muscular atrophy testing
  Thomas W. Prior, Narasimhan Nagan, Elaine A Sugarman, Sat v. De Batish, Corey D. Braastad> ;Genetics in Medicine. 2011 Jul 1
• 55 citations
  Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population
  Elizabeth M. Rohlfs, Zhaoqing Zhou, Ruth A. Heim, Narasimhan Nagan, Lynne S Rosenblum, Kerry Flynn, Thomas Scholl, Viatcheslav R. Akmaev, D. Alexa Sirko-Osadsa, Bernic...> ;Clinical Chemistry. 2011 Jun 1
• 37 citations
  Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses: A Report of the Association for Molecular Patho...
  Narasimhan Nagan, Nicole Faulkner, Christine Curtis, Iris Schrijver> ;The Journal of Molecular Diagnostics. 2011 Jan 1
• 24 citations
  Population Carrier Screening for Spinal Muscular Atrophy: A Position Statement of the Association for Molecular Pathology
  Kasinathan Muralidharan, Robert B. Wilson, Shuji Ogino, Narasimhan Nagan, Christine Curtis, Iris Schrijver> ;The Journal of Molecular Diagnostics. 2011 Jan 1
• 134 citations
  REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
  Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry Kremer, Suzanna G.M. Frints, Wendy A. G. van Zelst-Stams, Paula C. Byrne, S. Otto...> ;Brain. 2008 Apr 1
• 14 citations
  UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3
  William S. Benko, Kathleen S. Hruska, N. Nagan, Ozlem Goker-Alpan, P. S. Hart, Raphael Schiffmann, Ellen Sidransky> ;Neurology. 2008 Mar 18
• 28 citations
  Ovarian failure in ataxia with oculomotor apraxia type 2.
  David A. Lynch, Corey D. Braastad, Narasimhan Nagan> ;American Journal of Medical Genetics. Part A. 2007 Aug 1
• 26 citations
  Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure.
  Jomana T. Al-Hinti, Narasimhan Nagan, Sami I. Harik> ;Alzheimer Disease and Associated Disorders. 2007 Jul 1
• 43 citations
  In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome
  Alexander G. Bassuk, Ying Zhang Chen, S. D. Batish, N. Nagan, Puneet Opal, Phillip F. Chance, Craig L. Bennett> ;Neurogenetics. 2007 Jan 1
• 19 citations
  A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
  Conrad L. Leung, Narasimhan Nagan, Thomas H. Graham, Ronald K.H. Liem> ;American Journal of Medical Genetics. Part A. 2006 May 1
• 32 citations
  Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids.
  Dailan Liu, Narasimhan Nagan, Wilhelm W. Just, Claus Rodemer, Thanh-Phuong Thai, Raphael A. Zoeller> ;Journal of Lipid Research. 2005 Apr 1
• 56 citations
  The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots
  Narasimhan Nagan, Kent E. Kruckeberg, Angela L. Tauscher, Karen Snow Bailey, Piero Rinaldo, Dietrich Matern> ;Molecular Genetics and Metabolism. 2003 Apr 1
• 11 citations
  Validation of a single nucleotide polymorphism genotyping assay for the human serum paraoxonase gene using electronically active customized microarrays.
  Narasimhan Nagan, Dennis J. O'Kane> ;Clinical Biochemistry. 2001 Oct 1
• 436 citations
  Plasmalogens: biosynthesis and functions
  Narasimhan Nagan, Raphael A. Zoeller> ;Progress in Lipid Research. 2001 May 1
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