Contact Information

Call us at: (614) 722-0786

Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)

Learn more about Hui Mei

Biography

Hui Mei, PhD, FACMG, is a clinical director within the Institute for Genomics Medicine (IGM) at Nationwide’s Children’s Hospital. She received her Ph.D. in molecular biology from Texas A&M University and completed her clinical genetics fellowships at Icahn School of Medicine at Mount Sinai. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics by the American board of Medical Genetics and Genomics. She was an Assistant Director at Mount Sinai Genetic Testing Laboratory, focused on prenatal genetic diagnosis utilizing cytogenetics and molecular assays. Then Dr. Mei served as an Assistant Director at Baylor Genetics and as an Assistant Professor at Department of Molecular and Human Genetics, Baylor College of Medicine, where she focused on clinical NGS testing for mitochondrial diseases and contributed to the development of non-invasive prenatal testing for multiple monogenic disorders. For the past five years, Dr. Mei served as an Assistant Director then Associate Director at GeneDx, focusing on inherited cardiovascular diseases. Currently at IGM, she is involved in clinical case reporting, quality assurance, and the implementation of clinical diagnostic assays. Her interests focus on the developing new clinical testing for the diagnosis of human genetic diseases and understanding their underling molecular mechanism.

Awards, Honors & Organizations

Fellow Member, American College of Medical Genetics, 2015 - Present

Research

Publications

                  Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.

                


                  Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.

                


                  Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.

                


                  Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.

                


                  Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.

                


                  Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 08/08/2022

Fellowship

Icahn School of Medicine at Mount Sinai

Date Completed: 07/01/2013

Graduate School

Texas A&M University

Date Completed: 05/30/2009

Professional Experience

2022 - Present Nationwide Children’s Hospital, Clinical Laboratory Director2017 - 2021 GeneDx INC, Assistant/Associate Director2015 - 2017 Baylor Genetics, Assistant Director2013 - 2015 Mount Sinai Genetic Testing Laboratory, Assistant Director

Contact Information

Institute for Genomic Medicine

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)

Contact Information

Call us at: (614) 722-0786

Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)

Learn more about Hui Mei

Biography

Hui Mei, PhD, FACMG, is a clinical director within the Institute for Genomics Medicine (IGM) at Nationwide’s Children’s Hospital. She received her Ph.D. in molecular biology from Texas A&M University and completed her clinical genetics fellowships at Icahn School of Medicine at Mount Sinai. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics by the American board of Medical Genetics and Genomics. She was an Assistant Director at Mount Sinai Genetic Testing Laboratory, focused on prenatal genetic diagnosis utilizing cytogenetics and molecular assays. Then Dr. Mei served as an Assistant Director at Baylor Genetics and as an Assistant Professor at Department of Molecular and Human Genetics, Baylor College of Medicine, where she focused on clinical NGS testing for mitochondrial diseases and contributed to the development of non-invasive prenatal testing for multiple monogenic disorders. For the past five years, Dr. Mei served as an Assistant Director then Associate Director at GeneDx, focusing on inherited cardiovascular diseases. Currently at IGM, she is involved in clinical case reporting, quality assurance, and the implementation of clinical diagnostic assays. Her interests focus on the developing new clinical testing for the diagnosis of human genetic diseases and understanding their underling molecular mechanism.

Awards, Honors & Organizations

Fellow Member, American College of Medical Genetics, 2015 - Present

Research

Publications

                  Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.

                


                  Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.

                


                  Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.

                


                  Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.

                


                  Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.

                


                  Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 08/08/2022

Fellowship

Icahn School of Medicine at Mount Sinai

Date Completed: 07/01/2013

Graduate School

Texas A&M University

Date Completed: 05/30/2009

Professional Experience

2022 - Present Nationwide Children’s Hospital, Clinical Laboratory Director2017 - 2021 GeneDx INC, Assistant/Associate Director2015 - 2017 Baylor Genetics, Assistant Director2013 - 2015 Mount Sinai Genetic Testing Laboratory, Assistant Director

Contact Information

Institute for Genomic Medicine

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)

Contact Information

Call us at: (614) 722-0786

Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)

Learn more about Hui Mei

Contact Information

  • Call us at:
  • (614) 722-0786
  • Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)

Learn more about Hui Mei

Biography

Hui Mei, PhD, FACMG, is a clinical director within the Institute for Genomics Medicine (IGM) at Nationwide’s Children’s Hospital. She received her Ph.D. in molecular biology from Texas A&M University and completed her clinical genetics fellowships at Icahn School of Medicine at Mount Sinai. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics by the American board of Medical Genetics and Genomics. She was an Assistant Director at Mount Sinai Genetic Testing Laboratory, focused on prenatal genetic diagnosis utilizing cytogenetics and molecular assays. Then Dr. Mei served as an Assistant Director at Baylor Genetics and as an Assistant Professor at Department of Molecular and Human Genetics, Baylor College of Medicine, where she focused on clinical NGS testing for mitochondrial diseases and contributed to the development of non-invasive prenatal testing for multiple monogenic disorders. For the past five years, Dr. Mei served as an Assistant Director then Associate Director at GeneDx, focusing on inherited cardiovascular diseases. Currently at IGM, she is involved in clinical case reporting, quality assurance, and the implementation of clinical diagnostic assays. Her interests focus on the developing new clinical testing for the diagnosis of human genetic diseases and understanding their underling molecular mechanism.

Biography

Hui Mei, PhD, FACMG, is a clinical director within the Institute for Genomics Medicine (IGM) at Nationwide’s Children’s Hospital. She received her Ph.D. in molecular biology from Texas A&M University and completed her clinical genetics fellowships at Icahn School of Medicine at Mount Sinai. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics by the American board of Medical Genetics and Genomics. She was an Assistant Director at Mount Sinai Genetic Testing Laboratory, focused on prenatal genetic diagnosis utilizing cytogenetics and molecular assays. Then Dr. Mei served as an Assistant Director at Baylor Genetics and as an Assistant Professor at Department of Molecular and Human Genetics, Baylor College of Medicine, where she focused on clinical NGS testing for mitochondrial diseases and contributed to the development of non-invasive prenatal testing for multiple monogenic disorders. For the past five years, Dr. Mei served as an Assistant Director then Associate Director at GeneDx, focusing on inherited cardiovascular diseases. Currently at IGM, she is involved in clinical case reporting, quality assurance, and the implementation of clinical diagnostic assays. Her interests focus on the developing new clinical testing for the diagnosis of human genetic diseases and understanding their underling molecular mechanism.

Biography

Hui Mei, PhD, FACMG, is a clinical director within the Institute for Genomics Medicine (IGM) at Nationwide’s Children’s Hospital. She received her Ph.D. in molecular biology from Texas A&M University and completed her clinical genetics fellowships at Icahn School of Medicine at Mount Sinai. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics by the American board of Medical Genetics and Genomics. She was an Assistant Director at Mount Sinai Genetic Testing Laboratory, focused on prenatal genetic diagnosis utilizing cytogenetics and molecular assays. Then Dr. Mei served as an Assistant Director at Baylor Genetics and as an Assistant Professor at Department of Molecular and Human Genetics, Baylor College of Medicine, where she focused on clinical NGS testing for mitochondrial diseases and contributed to the development of non-invasive prenatal testing for multiple monogenic disorders. For the past five years, Dr. Mei served as an Assistant Director then Associate Director at GeneDx, focusing on inherited cardiovascular diseases. Currently at IGM, she is involved in clinical case reporting, quality assurance, and the implementation of clinical diagnostic assays. Her interests focus on the developing new clinical testing for the diagnosis of human genetic diseases and understanding their underling molecular mechanism.

Hui Mei, PhD, FACMG, is a clinical director within the Institute for Genomics Medicine (IGM) at Nationwide’s Children’s Hospital. She received her Ph.D. in molecular biology from Texas A&M University and completed her clinical genetics fellowships at Icahn School of Medicine at Mount Sinai. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics by the American board of Medical Genetics and Genomics. She was an Assistant Director at Mount Sinai Genetic Testing Laboratory, focused on prenatal genetic diagnosis utilizing cytogenetics and molecular assays. Then Dr. Mei served as an Assistant Director at Baylor Genetics and as an Assistant Professor at Department of Molecular and Human Genetics, Baylor College of Medicine, where she focused on clinical NGS testing for mitochondrial diseases and contributed to the development of non-invasive prenatal testing for multiple monogenic disorders. For the past five years, Dr. Mei served as an Assistant Director then Associate Director at GeneDx, focusing on inherited cardiovascular diseases. Currently at IGM, she is involved in clinical case reporting, quality assurance, and the implementation of clinical diagnostic assays. Her interests focus on the developing new clinical testing for the diagnosis of human genetic diseases and understanding their underling molecular mechanism.

Hui Mei, PhD, FACMG, is a clinical director within the Institute for Genomics Medicine (IGM) at Nationwide’s Children’s Hospital. She received her Ph.D. in molecular biology from Texas A&M University and completed her clinical genetics fellowships at Icahn School of Medicine at Mount Sinai. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics by the American board of Medical Genetics and Genomics.

She was an Assistant Director at Mount Sinai Genetic Testing Laboratory, focused on prenatal genetic diagnosis utilizing cytogenetics and molecular assays. Then Dr. Mei served as an Assistant Director at Baylor Genetics and as an Assistant Professor at Department of Molecular and Human Genetics, Baylor College of Medicine, where she focused on clinical NGS testing for mitochondrial diseases and contributed to the development of non-invasive prenatal testing for multiple monogenic disorders. For the past five years, Dr. Mei served as an Assistant Director then Associate Director at GeneDx, focusing on inherited cardiovascular diseases. Currently at IGM, she is involved in clinical case reporting, quality assurance, and the implementation of clinical diagnostic assays.

Her interests focus on the developing new clinical testing for the diagnosis of human genetic diseases and understanding their underling molecular mechanism.

Awards, Honors & Organizations

Fellow Member, American College of Medical Genetics, 2015 - Present

Awards, Honors & Organizations

Fellow Member, American College of Medical Genetics, 2015 - Present

Awards, Honors & Organizations

Fellow Member, American College of Medical Genetics, 2015 - Present

Fellow Member, American College of Medical Genetics, 2015 - Present

  • Fellow Member, American College of Medical Genetics, 2015 - Present

Research

Publications

                  Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.

                


                  Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.

                


                  Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.

                


                  Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.

                


                  Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.

                


                  Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

View More Publications

Research

Publications

                  Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.

                


                  Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.

                


                  Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.

                


                  Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.

                


                  Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.

                


                  Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

View More Publications

Research

Publications

                  Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.

                


                  Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.

                


                  Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.

                


                  Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.

                


                  Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.

                


                  Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

View More Publications

Publications

                  Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.

                


                  Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.

                


                  Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.

                


                  Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.

                


                  Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.

                


                  Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

View More Publications

                  Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.

                


                  Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.

                


                  Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.

                


                  Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.

                


                  Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.

                


                  Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

View More Publications

  • Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 Sep; 41: 1577-1587.
  • Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 Feb; 22: 336-344.
  • Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5: e565.
  • Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Mar; 25: 439-447.
  • Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Identification of rare de novo epigenetic variations in congenital disorders. Nat Commun. 2018 May 25; 9: 2064.
  • Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Aug; 19: 936-944.

Education

Date of Appointment at Nationwide Children’s Hospital: 08/08/2022

Fellowship

Icahn School of Medicine at Mount Sinai

Date Completed: 07/01/2013

Graduate School

Texas A&M University

Date Completed: 05/30/2009

Education

Date of Appointment at Nationwide Children’s Hospital: 08/08/2022

Fellowship

Icahn School of Medicine at Mount Sinai

Date Completed: 07/01/2013

Graduate School

Texas A&M University

Date Completed: 05/30/2009

Education

Date of Appointment at Nationwide Children’s Hospital: 08/08/2022

Fellowship

Icahn School of Medicine at Mount Sinai

Date Completed: 07/01/2013

Graduate School

Texas A&M University

Date Completed: 05/30/2009

Date of Appointment at Nationwide Children’s Hospital: 08/08/2022

Fellowship

Icahn School of Medicine at Mount Sinai

Date Completed: 07/01/2013

Graduate School

Texas A&M University

Date Completed: 05/30/2009

Date of Appointment at Nationwide Children’s Hospital: 08/08/2022

Fellowship

Icahn School of Medicine at Mount Sinai

Date Completed: 07/01/2013

Graduate School

Texas A&M University

Date Completed: 05/30/2009

Professional Experience

2022 - Present Nationwide Children’s Hospital, Clinical Laboratory Director2017 - 2021 GeneDx INC, Assistant/Associate Director2015 - 2017 Baylor Genetics, Assistant Director2013 - 2015 Mount Sinai Genetic Testing Laboratory, Assistant Director

Professional Experience

2022 - Present Nationwide Children’s Hospital, Clinical Laboratory Director2017 - 2021 GeneDx INC, Assistant/Associate Director2015 - 2017 Baylor Genetics, Assistant Director2013 - 2015 Mount Sinai Genetic Testing Laboratory, Assistant Director

Professional Experience

2022 - Present Nationwide Children’s Hospital, Clinical Laboratory Director2017 - 2021 GeneDx INC, Assistant/Associate Director2015 - 2017 Baylor Genetics, Assistant Director2013 - 2015 Mount Sinai Genetic Testing Laboratory, Assistant Director

2022 - Present Nationwide Children’s Hospital, Clinical Laboratory Director2017 - 2021 GeneDx INC, Assistant/Associate Director2015 - 2017 Baylor Genetics, Assistant Director2013 - 2015 Mount Sinai Genetic Testing Laboratory, Assistant Director

2022 - Present Nationwide Children’s Hospital, Clinical Laboratory Director

Contact Information

Institute for Genomic Medicine

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)

Institute for Genomic Medicine

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)

Call us at: (614) 722-0786

                    575 Children's CrossroadColumbus, OH 43215 (map)
  • Call us at:
  • (614) 722-0786
  • 575 Children’s CrossroadColumbus, OH 43215 (map)