Mari Mori

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 Mari Mori

Biography

Mari Mori, MD, MS, is a clinical geneticist and biochemical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children’s Hospital and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. She is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Informatics.

See Mari Mori’s Curriculum Vitae (CV)

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

Academic and Clinical Areas

Genetic and Genomic Medicine

Physician Team

Medical Biochemical Genetics Fellowship

Program Director

Medical Genetics Residency

Faculty

Primary Department

Pediatrics

Primary Section

Genetic and Genomic Medicine

Awards, Honors & Organizations

WorldSymposium, 2016 Young Investigator Award, 2016 Top Clinical Research Abstract, Duke University Medical Center, 2016 Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award, Pfizer/ACMG Foundation, 2015 N Program Scholarship Award, Tokyo Kaijo Nichido, 2007 Member, Society for the Study of Inborn Errors of Metabolism, 2017 - Present Member, Society for Inherited Metabolic Disorders, 2013 - Present Member, American College of Medical Genetics & Genomics, 2012 - Present Member, American Society of Human Genetics, 2012 - Present Member, American Medical Association, 2009 - Present

Research

Dr. Mori’s research interests include genomic data analysis to elucidate complex genetics within Mendelian disorders. Her current research analyzes whole exome sequencing data on patients with Pompe disease with various severity spectrum in order to elucidate modifying pathways that affect its phenotype. Publications

                  Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;  

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6;  8830738221089741.

                


                  Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.

                


                  Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.

                


                  Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.

                


                  Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.

                


                  Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.

                


                  Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.

                


                  Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 01/07/2019

Board Certifications

Clinical Genetics and Genomics Clinical Informatics Medical Biochemical Genetics

Fellowship

Duke University and Health System

Date Completed: 06/30/2016

Residency

Nationwide Children’s Hospital

Date Completed: 06/30/2014

Residency

Allegheny General Hospital (Pittsburgh)

Date Completed: 09/30/2010

Residency

UPMC Shadyside Hospital

Date Completed: 09/30/2008

Residency

JCHO Tokyo Shinjuku Medical Center

Date Completed: 04/03/2005

Medical School

Nagasaki University School of Medicine

Date Completed: 03/25/2003

Professional Experience

2016 - 2018 Hasbro Children’s Hospital/Brown University, Assistant Professor

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 Mari Mori

Biography

Mari Mori, MD, MS, is a clinical geneticist and biochemical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children’s Hospital and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. She is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Informatics.

See Mari Mori’s Curriculum Vitae (CV)

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

Academic and Clinical Areas

Genetic and Genomic Medicine

Physician Team

Medical Biochemical Genetics Fellowship

Program Director

Medical Genetics Residency

Faculty

Primary Department

Pediatrics

Primary Section

Genetic and Genomic Medicine

Awards, Honors & Organizations

WorldSymposium, 2016 Young Investigator Award, 2016 Top Clinical Research Abstract, Duke University Medical Center, 2016 Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award, Pfizer/ACMG Foundation, 2015 N Program Scholarship Award, Tokyo Kaijo Nichido, 2007 Member, Society for the Study of Inborn Errors of Metabolism, 2017 - Present Member, Society for Inherited Metabolic Disorders, 2013 - Present Member, American College of Medical Genetics & Genomics, 2012 - Present Member, American Society of Human Genetics, 2012 - Present Member, American Medical Association, 2009 - Present

Research

Dr. Mori’s research interests include genomic data analysis to elucidate complex genetics within Mendelian disorders. Her current research analyzes whole exome sequencing data on patients with Pompe disease with various severity spectrum in order to elucidate modifying pathways that affect its phenotype. Publications

                  Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;  

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6;  8830738221089741.

                


                  Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.

                


                  Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.

                


                  Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.

                


                  Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.

                


                  Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.

                


                  Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.

                


                  Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 01/07/2019

Board Certifications

Clinical Genetics and Genomics Clinical Informatics Medical Biochemical Genetics

Fellowship

Duke University and Health System

Date Completed: 06/30/2016

Residency

Nationwide Children’s Hospital

Date Completed: 06/30/2014

Residency

Allegheny General Hospital (Pittsburgh)

Date Completed: 09/30/2010

Residency

UPMC Shadyside Hospital

Date Completed: 09/30/2008

Residency

JCHO Tokyo Shinjuku Medical Center

Date Completed: 04/03/2005

Medical School

Nagasaki University School of Medicine

Date Completed: 03/25/2003

Professional Experience

2016 - 2018 Hasbro Children’s Hospital/Brown University, Assistant Professor

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 Mari Mori

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 Mari Mori

Biography

Mari Mori, MD, MS, is a clinical geneticist and biochemical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children’s Hospital and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. She is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Informatics.

See Mari Mori’s Curriculum Vitae (CV)

Biography

Mari Mori, MD, MS, is a clinical geneticist and biochemical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children’s Hospital and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. She is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Informatics.

See Mari Mori’s Curriculum Vitae (CV)

Biography

Mari Mori, MD, MS, is a clinical geneticist and biochemical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children’s Hospital and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. She is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Informatics.

See Mari Mori’s Curriculum Vitae (CV)

Mari Mori, MD, MS, is a clinical geneticist and biochemical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children’s Hospital and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. She is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Informatics.

See Mari Mori’s Curriculum Vitae (CV)

Mari Mori, MD, MS, is a clinical geneticist and biochemical geneticist in the Division of Genetic & Genomic Medicine at Nationwide Children’s Hospital and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. She is board-certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Informatics.

See Mari Mori’s Curriculum Vitae (CV)

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

Locations

Main Campus of Nationwide Children’s Hospital

Nationwide Children’s Hospital Toledo

Languages Spoken

English Japanese

• Main Campus of Nationwide Children’s Hospital

• Nationwide Children’s Hospital Toledo

• English

• Japanese

Academic and Clinical Areas

Genetic and Genomic Medicine

Physician Team

Medical Biochemical Genetics Fellowship

Program Director

Medical Genetics Residency

Faculty

Primary Department

Pediatrics

Primary Section

Genetic and Genomic Medicine

Academic and Clinical Areas

Genetic and Genomic Medicine

Physician Team

Medical Biochemical Genetics Fellowship

Program Director

Medical Genetics Residency

Faculty

Primary Department

Pediatrics

Primary Section

Genetic and Genomic Medicine

Academic and Clinical Areas

Genetic and Genomic Medicine

Physician Team

Medical Biochemical Genetics Fellowship

Program Director

Medical Genetics Residency

Faculty

Primary Department

Pediatrics

Primary Section

Genetic and Genomic Medicine

Genetic and Genomic Medicine

Physician Team

Medical Biochemical Genetics Fellowship

Program Director

Medical Genetics Residency

Faculty

Primary Department

Pediatrics

Primary Section

Genetic and Genomic Medicine

• Genetic and Genomic Medicine
• Physician Team
• Medical Biochemical Genetics Fellowship
• Program Director
• Medical Genetics Residency
• Faculty
• Primary Department
• Pediatrics
• Primary Section
• Genetic and Genomic Medicine

Awards, Honors & Organizations

WorldSymposium, 2016 Young Investigator Award, 2016 Top Clinical Research Abstract, Duke University Medical Center, 2016 Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award, Pfizer/ACMG Foundation, 2015 N Program Scholarship Award, Tokyo Kaijo Nichido, 2007 Member, Society for the Study of Inborn Errors of Metabolism, 2017 - Present Member, Society for Inherited Metabolic Disorders, 2013 - Present Member, American College of Medical Genetics & Genomics, 2012 - Present Member, American Society of Human Genetics, 2012 - Present Member, American Medical Association, 2009 - Present

Awards, Honors & Organizations

WorldSymposium, 2016 Young Investigator Award, 2016 Top Clinical Research Abstract, Duke University Medical Center, 2016 Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award, Pfizer/ACMG Foundation, 2015 N Program Scholarship Award, Tokyo Kaijo Nichido, 2007 Member, Society for the Study of Inborn Errors of Metabolism, 2017 - Present Member, Society for Inherited Metabolic Disorders, 2013 - Present Member, American College of Medical Genetics & Genomics, 2012 - Present Member, American Society of Human Genetics, 2012 - Present Member, American Medical Association, 2009 - Present

Awards, Honors & Organizations

WorldSymposium, 2016 Young Investigator Award, 2016 Top Clinical Research Abstract, Duke University Medical Center, 2016 Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award, Pfizer/ACMG Foundation, 2015 N Program Scholarship Award, Tokyo Kaijo Nichido, 2007 Member, Society for the Study of Inborn Errors of Metabolism, 2017 - Present Member, Society for Inherited Metabolic Disorders, 2013 - Present Member, American College of Medical Genetics & Genomics, 2012 - Present Member, American Society of Human Genetics, 2012 - Present Member, American Medical Association, 2009 - Present

WorldSymposium, 2016 Young Investigator Award, 2016 Top Clinical Research Abstract, Duke University Medical Center, 2016 Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award, Pfizer/ACMG Foundation, 2015 N Program Scholarship Award, Tokyo Kaijo Nichido, 2007 Member, Society for the Study of Inborn Errors of Metabolism, 2017 - Present Member, Society for Inherited Metabolic Disorders, 2013 - Present Member, American College of Medical Genetics & Genomics, 2012 - Present Member, American Society of Human Genetics, 2012 - Present Member, American Medical Association, 2009 - Present

• WorldSymposium, 2016
• Young Investigator Award, 2016
• Top Clinical Research Abstract, Duke University Medical Center, 2016
• Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award, Pfizer/ACMG Foundation, 2015
• N Program Scholarship Award, Tokyo Kaijo Nichido, 2007
• Member, Society for the Study of Inborn Errors of Metabolism, 2017 - Present
• Member, Society for Inherited Metabolic Disorders, 2013 - Present
• Member, American College of Medical Genetics & Genomics, 2012 - Present
• Member, American Society of Human Genetics, 2012 - Present
• Member, American Medical Association, 2009 - Present

Research

Dr. Mori’s research interests include genomic data analysis to elucidate complex genetics within Mendelian disorders. Her current research analyzes whole exome sequencing data on patients with Pompe disease with various severity spectrum in order to elucidate modifying pathways that affect its phenotype. Publications

                  Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;  

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6;  8830738221089741.

                


                  Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.

                


                  Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.

                


                  Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.

                


                  Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.

                


                  Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.

                


                  Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.

                


                  Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

View More Publications

Research

Dr. Mori’s research interests include genomic data analysis to elucidate complex genetics within Mendelian disorders. Her current research analyzes whole exome sequencing data on patients with Pompe disease with various severity spectrum in order to elucidate modifying pathways that affect its phenotype. Publications

                  Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;  

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6;  8830738221089741.

                


                  Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.

                


                  Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.

                


                  Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.

                


                  Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.

                


                  Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.

                


                  Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.

                


                  Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

View More Publications

Research

Dr. Mori’s research interests include genomic data analysis to elucidate complex genetics within Mendelian disorders. Her current research analyzes whole exome sequencing data on patients with Pompe disease with various severity spectrum in order to elucidate modifying pathways that affect its phenotype. Publications

                  Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;  

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6;  8830738221089741.

                


                  Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.

                


                  Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.

                


                  Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.

                


                  Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.

                


                  Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.

                


                  Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.

                


                  Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

View More Publications

Dr. Mori’s research interests include genomic data analysis to elucidate complex genetics within Mendelian disorders. Her current research analyzes whole exome sequencing data on patients with Pompe disease with various severity spectrum in order to elucidate modifying pathways that affect its phenotype. Publications

                  Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;  

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6;  8830738221089741.

                


                  Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.

                


                  Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.

                


                  Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.

                


                  Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.

                


                  Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.

                


                  Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.

                


                  Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

View More Publications

Dr. Mori’s research interests include genomic data analysis to elucidate complex genetics within Mendelian disorders. Her current research analyzes whole exome sequencing data on patients with Pompe disease with various severity spectrum in order to elucidate modifying pathways that affect its phenotype.

                  Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;  

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6;  8830738221089741.

                


                  Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.

                


                  Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;  

                


                  Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.

                


                  Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.

                


                  Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.

                


                  Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.

                


                  Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.

                


                  Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.

                


                  Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.

                


                  Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.

                


                  Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

View More Publications

• Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2022 Oct 22;
• Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;
• Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol. 2022 Apr 6; 8830738221089741.
• Brokamp G, Mori M, Faith EF. Pseudoxanthoma Elasticum. JAMA Dermatol. 2022 Jan 1; 158: 100.
• Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Hum Mutat. 2021 Dec 2;
• Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
• Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2464-2466.
• Prasad P, Mori M, Toriello HV, ACMG Professional Practice and Guidelines Committee.. Correction to: Focused Revision: Policy statement on folic acid and neural tube defects. Genet Med. 2021 Dec; 23: 2469.
• Schuster J, Uzun A, Stablia J, Schorl C, Mori M, Padbury JF. Effect of prematurity on genome wide methylation in the placenta. BMC Med Genet. 2019 Jun 28; 20: 116.
• Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr; 21: 867-876.
• Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Mar; 21: 764-765.
• Khanna N, Statler B, Chen W, Snady-McCoy L, Mori M, Janigian RH. Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. J AAPOS. 2019 Feb; 23: 59-61.
• Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct; 4:
• Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul; 45: 261-262.
• Torga AP, Hodax J, Mori M, Schwab J, Quintos JB. Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. Case Rep Endocrinol. 2018; 2018: 4283267.
• Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec; 122: 189-197.
• Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017; 31: 79-83.

Education

Date of Appointment at Nationwide Children’s Hospital: 01/07/2019

Board Certifications

Clinical Genetics and Genomics Clinical Informatics Medical Biochemical Genetics

Fellowship

Duke University and Health System

Date Completed: 06/30/2016

Residency

Nationwide Children’s Hospital

Date Completed: 06/30/2014

Residency

Allegheny General Hospital (Pittsburgh)

Date Completed: 09/30/2010

Residency

UPMC Shadyside Hospital

Date Completed: 09/30/2008

Residency

JCHO Tokyo Shinjuku Medical Center

Date Completed: 04/03/2005

Medical School

Nagasaki University School of Medicine

Date Completed: 03/25/2003

Education

Date of Appointment at Nationwide Children’s Hospital: 01/07/2019

Board Certifications

Clinical Genetics and Genomics Clinical Informatics Medical Biochemical Genetics

Fellowship

Duke University and Health System

Date Completed: 06/30/2016

Residency

Nationwide Children’s Hospital

Date Completed: 06/30/2014

Residency

Allegheny General Hospital (Pittsburgh)

Date Completed: 09/30/2010

Residency

UPMC Shadyside Hospital

Date Completed: 09/30/2008

Residency

JCHO Tokyo Shinjuku Medical Center

Date Completed: 04/03/2005

Medical School

Nagasaki University School of Medicine

Date Completed: 03/25/2003

Education

Date of Appointment at Nationwide Children’s Hospital: 01/07/2019

Board Certifications

Clinical Genetics and Genomics Clinical Informatics Medical Biochemical Genetics

Fellowship

Duke University and Health System

Date Completed: 06/30/2016

Residency

Nationwide Children’s Hospital

Date Completed: 06/30/2014

Residency

Allegheny General Hospital (Pittsburgh)

Date Completed: 09/30/2010

Residency

UPMC Shadyside Hospital

Date Completed: 09/30/2008

Residency

JCHO Tokyo Shinjuku Medical Center

Date Completed: 04/03/2005

Medical School

Nagasaki University School of Medicine

Date Completed: 03/25/2003

Date of Appointment at Nationwide Children’s Hospital: 01/07/2019

Board Certifications

Clinical Genetics and Genomics Clinical Informatics Medical Biochemical Genetics

Fellowship

Duke University and Health System

Date Completed: 06/30/2016

Residency

Nationwide Children’s Hospital

Date Completed: 06/30/2014

Residency

Allegheny General Hospital (Pittsburgh)

Date Completed: 09/30/2010

Residency

UPMC Shadyside Hospital

Date Completed: 09/30/2008

Residency

JCHO Tokyo Shinjuku Medical Center

Date Completed: 04/03/2005

Medical School

Nagasaki University School of Medicine

Date Completed: 03/25/2003

Date of Appointment at Nationwide Children’s Hospital: 01/07/2019

Board Certifications

Clinical Genetics and Genomics Clinical Informatics Medical Biochemical Genetics

Fellowship

Duke University and Health System

Date Completed: 06/30/2016

Residency

Nationwide Children’s Hospital

Date Completed: 06/30/2014

Residency

Allegheny General Hospital (Pittsburgh)

Date Completed: 09/30/2010

Residency

UPMC Shadyside Hospital

Date Completed: 09/30/2008

Residency

JCHO Tokyo Shinjuku Medical Center

Date Completed: 04/03/2005

Medical School

Nagasaki University School of Medicine

Date Completed: 03/25/2003

• Clinical Genetics and Genomics
• Clinical Informatics
• Medical Biochemical Genetics

Professional Experience

2016 - 2018 Hasbro Children’s Hospital/Brown University, Assistant Professor

Professional Experience

2016 - 2018 Hasbro Children’s Hospital/Brown University, Assistant Professor

Professional Experience

2016 - 2018 Hasbro Children’s Hospital/Brown University, Assistant Professor

2016 - 2018 Hasbro Children’s Hospital/Brown University, Assistant Professor

2016 - 2018 Hasbro Children’s Hospital/Brown University, Assistant Professor

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)