Contact Information
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)
Learn more about Kandamurugu Manickam
Biography
Murugu Manickam, MD, MPH, FACMG, is a clinical geneticist/genomicist at Nationwide Children’s Hospital as an associate professor of Clinical Pediatrics, with a joint appointment at the Wexner Medical Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He is board certified in internal medicine and clinical genetics and received an MPH from UNC-Chapel Hill. His specialty clinical interests are Down Syndrome and Neurofibromatosis but sees many rare clinical disorders. Additionally he is a national expert secondary findings from clinical testing and preventative. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics. He has been an invited lecturer and moderator at national and international meetings on the genetics and genomics.
Patient Care
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Academic and Clinical Areas
Genetic and Genomic Medicine
Section Chief
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Awards, Honors & Organizations
Junior Faculty Citizenship Award, Department of Pediatrics, 2013 Advocate in Medicine, Down Syndrome Association, 2012 Dan Kelly Memorial Award, RCSI, 2002 Member, American College of Medical Genetics and Genomics Member, Down Syndrome Medical Interest Group, American Society of Human Genetics
Research
Publications
Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
View More Publications
Education
Date of Appointment at Nationwide Children’s Hospital: 08/01/2017
Board Certifications
Clinical Genetics and Genomics Internal Medicine
Residency
University of North Carolina at Chapel Hill Hospi
Date Completed: 07/31/2008
Residency
Metro Health Medical Center
Date Completed: 06/30/2006
Medical School
The Royal College of Surgeons in Ireland
Date Completed: 05/31/2002
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Contact Information
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)
Learn more about Kandamurugu Manickam
Biography
Murugu Manickam, MD, MPH, FACMG, is a clinical geneticist/genomicist at Nationwide Children’s Hospital as an associate professor of Clinical Pediatrics, with a joint appointment at the Wexner Medical Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He is board certified in internal medicine and clinical genetics and received an MPH from UNC-Chapel Hill. His specialty clinical interests are Down Syndrome and Neurofibromatosis but sees many rare clinical disorders. Additionally he is a national expert secondary findings from clinical testing and preventative. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics. He has been an invited lecturer and moderator at national and international meetings on the genetics and genomics.
Patient Care
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Academic and Clinical Areas
Genetic and Genomic Medicine
Section Chief
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Awards, Honors & Organizations
Junior Faculty Citizenship Award, Department of Pediatrics, 2013 Advocate in Medicine, Down Syndrome Association, 2012 Dan Kelly Memorial Award, RCSI, 2002 Member, American College of Medical Genetics and Genomics Member, Down Syndrome Medical Interest Group, American Society of Human Genetics
Research
Publications
Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
View More Publications
Education
Date of Appointment at Nationwide Children’s Hospital: 08/01/2017
Board Certifications
Clinical Genetics and Genomics Internal Medicine
Residency
University of North Carolina at Chapel Hill Hospi
Date Completed: 07/31/2008
Residency
Metro Health Medical Center
Date Completed: 06/30/2006
Medical School
The Royal College of Surgeons in Ireland
Date Completed: 05/31/2002
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Contact Information
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)
Learn more about Kandamurugu Manickam
Contact Information
- Call us at:
- (614) 722-3535
- Fax us at:
- (614) 722-3546
- PediatricsGenetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)
Learn more about Kandamurugu Manickam
Biography
Murugu Manickam, MD, MPH, FACMG, is a clinical geneticist/genomicist at Nationwide Children’s Hospital as an associate professor of Clinical Pediatrics, with a joint appointment at the Wexner Medical Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He is board certified in internal medicine and clinical genetics and received an MPH from UNC-Chapel Hill. His specialty clinical interests are Down Syndrome and Neurofibromatosis but sees many rare clinical disorders. Additionally he is a national expert secondary findings from clinical testing and preventative. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics. He has been an invited lecturer and moderator at national and international meetings on the genetics and genomics.
Biography
Murugu Manickam, MD, MPH, FACMG, is a clinical geneticist/genomicist at Nationwide Children’s Hospital as an associate professor of Clinical Pediatrics, with a joint appointment at the Wexner Medical Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He is board certified in internal medicine and clinical genetics and received an MPH from UNC-Chapel Hill. His specialty clinical interests are Down Syndrome and Neurofibromatosis but sees many rare clinical disorders. Additionally he is a national expert secondary findings from clinical testing and preventative. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics. He has been an invited lecturer and moderator at national and international meetings on the genetics and genomics.
Biography
Murugu Manickam, MD, MPH, FACMG, is a clinical geneticist/genomicist at Nationwide Children’s Hospital as an associate professor of Clinical Pediatrics, with a joint appointment at the Wexner Medical Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He is board certified in internal medicine and clinical genetics and received an MPH from UNC-Chapel Hill. His specialty clinical interests are Down Syndrome and Neurofibromatosis but sees many rare clinical disorders. Additionally he is a national expert secondary findings from clinical testing and preventative. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics. He has been an invited lecturer and moderator at national and international meetings on the genetics and genomics.
Murugu Manickam, MD, MPH, FACMG, is a clinical geneticist/genomicist at Nationwide Children’s Hospital as an associate professor of Clinical Pediatrics, with a joint appointment at the Wexner Medical Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He is board certified in internal medicine and clinical genetics and received an MPH from UNC-Chapel Hill. His specialty clinical interests are Down Syndrome and Neurofibromatosis but sees many rare clinical disorders. Additionally he is a national expert secondary findings from clinical testing and preventative. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics. He has been an invited lecturer and moderator at national and international meetings on the genetics and genomics.
Murugu Manickam, MD, MPH, FACMG, is a clinical geneticist/genomicist at Nationwide Children’s Hospital as an associate professor of Clinical Pediatrics, with a joint appointment at the Wexner Medical Center at The Ohio State University Medical Center. Dr. Manickam received his medical degree from the Royal College of Surgeons in Ireland, completed a residency in internal medicine-pediatrics at Case Western/MetroHealth Medical Center in Cleveland and completed a fellowship in clinical genetics at the University of North Carolina, Chapel Hill. He is board certified in internal medicine and clinical genetics and received an MPH from UNC-Chapel Hill.
His specialty clinical interests are Down Syndrome and Neurofibromatosis but sees many rare clinical disorders. Additionally he is a national expert secondary findings from clinical testing and preventative. Other areas of interest are the societal and ethical considerations of genetic testing and health disparities with genetics. He has been an invited lecturer and moderator at national and international meetings on the genetics and genomics.
Patient Care
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Patient Care
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Patient Care
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
Locations
Main Campus of Nationwide Children’s Hospital
Nationwide Children’s Hospital Toledo
- Main Campus of Nationwide Children’s Hospital
- Nationwide Children’s Hospital Toledo
Academic and Clinical Areas
Genetic and Genomic Medicine
Section Chief
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Academic and Clinical Areas
Genetic and Genomic Medicine
Section Chief
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Academic and Clinical Areas
Genetic and Genomic Medicine
Section Chief
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
Genetic and Genomic Medicine
Section Chief
Medical Biochemical Genetics Fellowship
Faculty
Medical Genetics Residency
Faculty
Primary Department
Pediatrics
Primary Section
Genetic and Genomic Medicine
- Genetic and Genomic Medicine
- Section Chief
- Medical Biochemical Genetics Fellowship
- Faculty
- Medical Genetics Residency
- Faculty
- Primary Department
- Pediatrics
- Primary Section
- Genetic and Genomic Medicine
Awards, Honors & Organizations
Junior Faculty Citizenship Award, Department of Pediatrics, 2013 Advocate in Medicine, Down Syndrome Association, 2012 Dan Kelly Memorial Award, RCSI, 2002 Member, American College of Medical Genetics and Genomics Member, Down Syndrome Medical Interest Group, American Society of Human Genetics
Awards, Honors & Organizations
Junior Faculty Citizenship Award, Department of Pediatrics, 2013 Advocate in Medicine, Down Syndrome Association, 2012 Dan Kelly Memorial Award, RCSI, 2002 Member, American College of Medical Genetics and Genomics Member, Down Syndrome Medical Interest Group, American Society of Human Genetics
Awards, Honors & Organizations
Junior Faculty Citizenship Award, Department of Pediatrics, 2013 Advocate in Medicine, Down Syndrome Association, 2012 Dan Kelly Memorial Award, RCSI, 2002 Member, American College of Medical Genetics and Genomics Member, Down Syndrome Medical Interest Group, American Society of Human Genetics
Junior Faculty Citizenship Award, Department of Pediatrics, 2013 Advocate in Medicine, Down Syndrome Association, 2012 Dan Kelly Memorial Award, RCSI, 2002 Member, American College of Medical Genetics and Genomics Member, Down Syndrome Medical Interest Group, American Society of Human Genetics
- Junior Faculty Citizenship Award, Department of Pediatrics, 2013
- Advocate in Medicine, Down Syndrome Association, 2012
- Dan Kelly Memorial Award, RCSI, 2002
- Member, American College of Medical Genetics and Genomics
- Member, Down Syndrome Medical Interest Group, American Society of Human Genetics
Research
Publications
Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
View More Publications
Research
Publications
Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
View More Publications
Research
Publications
Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
View More Publications
Publications
Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
View More Publications
Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
View More Publications
- Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med. 2019 Jun; 21: 1417-1424.
- Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 Sep 7; 1: e182140.
- Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 Sep 6; 103: 328-337.
- Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 Apr; 20: 554-558.
- Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O’Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23; 354:
- Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19; 9: 42.
- Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139: 765-81.
- Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7: 10713.
- Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. Am J Med Genet A. 2014 Jan; 164A: 243-50.
Education
Date of Appointment at Nationwide Children’s Hospital: 08/01/2017
Board Certifications
Clinical Genetics and Genomics Internal Medicine
Residency
University of North Carolina at Chapel Hill Hospi
Date Completed: 07/31/2008
Residency
Metro Health Medical Center
Date Completed: 06/30/2006
Medical School
The Royal College of Surgeons in Ireland
Date Completed: 05/31/2002
Education
Date of Appointment at Nationwide Children’s Hospital: 08/01/2017
Board Certifications
Clinical Genetics and Genomics Internal Medicine
Residency
University of North Carolina at Chapel Hill Hospi
Date Completed: 07/31/2008
Residency
Metro Health Medical Center
Date Completed: 06/30/2006
Medical School
The Royal College of Surgeons in Ireland
Date Completed: 05/31/2002
Education
Date of Appointment at Nationwide Children’s Hospital: 08/01/2017
Board Certifications
Clinical Genetics and Genomics Internal Medicine
Residency
University of North Carolina at Chapel Hill Hospi
Date Completed: 07/31/2008
Residency
Metro Health Medical Center
Date Completed: 06/30/2006
Medical School
The Royal College of Surgeons in Ireland
Date Completed: 05/31/2002
Date of Appointment at Nationwide Children’s Hospital: 08/01/2017
Board Certifications
Clinical Genetics and Genomics Internal Medicine
Residency
University of North Carolina at Chapel Hill Hospi
Date Completed: 07/31/2008
Residency
Metro Health Medical Center
Date Completed: 06/30/2006
Medical School
The Royal College of Surgeons in Ireland
Date Completed: 05/31/2002
Date of Appointment at Nationwide Children’s Hospital: 08/01/2017
Board Certifications
Clinical Genetics and Genomics Internal Medicine
Residency
University of North Carolina at Chapel Hill Hospi
Date Completed: 07/31/2008
Residency
Metro Health Medical Center
Date Completed: 06/30/2006
Medical School
The Royal College of Surgeons in Ireland
Date Completed: 05/31/2002
- Clinical Genetics and Genomics
- Internal Medicine
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Contact Information
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Pediatrics
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
Call us at: (614) 722-3535
Fax us at: (614) 722-3546
Genetics and Genomic Medicine700 Children's DrColumbus, OH 43205 (map)
- Call us at:
- (614) 722-3535
- Fax us at:
- (614) 722-3546
- Genetics and Genomic Medicine700 Children’s DrColumbus, OH 43205 (map)