Contact Information

Email Rolf W. Stottmann, PhD

Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Rolf W. Stottmann

Biography

Rolf Stottmann, PhD, is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an associate professor at The Ohio State University College of Medicine. He joined Nationwide Children’s in 2021. He received a B.S. (Physiology and Neurobiology) and M.S. (Developmental Neurobiology) from the University of Maryland, College Park. Dr. Stottmann pursued dissertation work in the Department of Cell Biology at the Duke University School of Medicine followed by postdoctoral training at the Brigham & Women’s Hospital (Division of Genetics) and Harvard Medical School. In 2011 he set up his first laboratory research program at Cincinnati Children’s Hospital in the Division of Human Genetics with a joint appointment in the Division of Developmental Biology. Dr. Stottmann has an enduring interest in the genetics of structural birth defects. He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. He originally trained using mouse genetics to study these issues but has recently added human sequencing projects to the lab portfolio. At Nationwide Children’s, Dr. Stottmann’s lab now uses a combination of human and mouse genetics to identify and study rare genetic variants which cause these congenital malformations. Genome editing tools allow the group to directly model patient variants to assess pathogenicity, study animal models in depth and potentially design therapeutic intervention strategies.

Academic and Clinical Areas

Stottmann Lab

Principal Investigator

Primary Department

Institute for Genomic Medicine

Awards, Honors & Organizations

Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2020 Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2016 Basil O’Connor Scholar, March of Dimes Foundation, 2013 Trustee’s Scholar, Cincinnati Children’s Research Foundation, 2012 Peer Mentor Award, Brigham & Women’s Hospital, 2011 National Research Service Award for Postdoctoral Fellows, NICHD, 2007 National Research Service Award for Predoctoral Fellows, NINDS, 2002

Research

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

Publications

                  Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

                


                  Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;  

                


                  Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;  

                


                  Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

                


                  Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

                


                  Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

                


                  Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

                


                  Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9: 

                


                  Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

                


                  Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13: 

                


                  Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

                


                  Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

                


                  Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

                


                  Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

                


                  Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8: 

                


                  DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 06/07/2021

Postdoctoral Training

HARVARD MEDICAL SCHOOL

Date Completed: 01/01/2011

Graduate School

DUKE UNIVERSITY SCHOOL OF MEDICINE

Date Completed: 01/01/2004

Undergraduate School

University of Maryland

Date Completed: 05/31/1995

Professional Experience

2021 - Present Nationwide Children’s Hospital2011 - 2021 Cincinnati Children’s Hospital

Research Funding

NIH/NIGMS R35GM131875 Molecular analysis of primary cilia protein in human development and disease, Principal Investigator NIH/NIDCR R01DE027091 Forward genetic analysis of congenital craniofacial malformations, Principal Investigator NIH/NICHD R03HD094882 Role of Cholesterol Biosynthesis in Development, Principal Investigator

Contact Information

Institute for Genomic Medicine

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)

Connect with Rolf W. Stottmann

Connect on Twitter

Contact Information

Email Rolf W. Stottmann, PhD

Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Rolf W. Stottmann

Biography

Rolf Stottmann, PhD, is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an associate professor at The Ohio State University College of Medicine. He joined Nationwide Children’s in 2021. He received a B.S. (Physiology and Neurobiology) and M.S. (Developmental Neurobiology) from the University of Maryland, College Park. Dr. Stottmann pursued dissertation work in the Department of Cell Biology at the Duke University School of Medicine followed by postdoctoral training at the Brigham & Women’s Hospital (Division of Genetics) and Harvard Medical School. In 2011 he set up his first laboratory research program at Cincinnati Children’s Hospital in the Division of Human Genetics with a joint appointment in the Division of Developmental Biology. Dr. Stottmann has an enduring interest in the genetics of structural birth defects. He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. He originally trained using mouse genetics to study these issues but has recently added human sequencing projects to the lab portfolio. At Nationwide Children’s, Dr. Stottmann’s lab now uses a combination of human and mouse genetics to identify and study rare genetic variants which cause these congenital malformations. Genome editing tools allow the group to directly model patient variants to assess pathogenicity, study animal models in depth and potentially design therapeutic intervention strategies.

Academic and Clinical Areas

Stottmann Lab

Principal Investigator

Primary Department

Institute for Genomic Medicine

Awards, Honors & Organizations

Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2020 Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2016 Basil O’Connor Scholar, March of Dimes Foundation, 2013 Trustee’s Scholar, Cincinnati Children’s Research Foundation, 2012 Peer Mentor Award, Brigham & Women’s Hospital, 2011 National Research Service Award for Postdoctoral Fellows, NICHD, 2007 National Research Service Award for Predoctoral Fellows, NINDS, 2002

Research

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

Publications

                  Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

                


                  Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;  

                


                  Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;  

                


                  Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

                


                  Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

                


                  Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

                


                  Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

                


                  Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9: 

                


                  Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

                


                  Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13: 

                


                  Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

                


                  Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

                


                  Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

                


                  Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

                


                  Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8: 

                


                  DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

View More Publications

Education

Date of Appointment at Nationwide Children’s Hospital: 06/07/2021

Postdoctoral Training

HARVARD MEDICAL SCHOOL

Date Completed: 01/01/2011

Graduate School

DUKE UNIVERSITY SCHOOL OF MEDICINE

Date Completed: 01/01/2004

Undergraduate School

University of Maryland

Date Completed: 05/31/1995

Professional Experience

2021 - Present Nationwide Children’s Hospital2011 - 2021 Cincinnati Children’s Hospital

Research Funding

NIH/NIGMS R35GM131875 Molecular analysis of primary cilia protein in human development and disease, Principal Investigator NIH/NIDCR R01DE027091 Forward genetic analysis of congenital craniofacial malformations, Principal Investigator NIH/NICHD R03HD094882 Role of Cholesterol Biosynthesis in Development, Principal Investigator

Contact Information

Institute for Genomic Medicine

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)

Connect with Rolf W. Stottmann

Connect on Twitter

Contact Information

Email Rolf W. Stottmann, PhD

Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Rolf W. Stottmann

Contact Information

  • Email Rolf W. Stottmann, PhD
  • Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Rolf W. Stottmann

Biography

Rolf Stottmann, PhD, is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an associate professor at The Ohio State University College of Medicine. He joined Nationwide Children’s in 2021. He received a B.S. (Physiology and Neurobiology) and M.S. (Developmental Neurobiology) from the University of Maryland, College Park. Dr. Stottmann pursued dissertation work in the Department of Cell Biology at the Duke University School of Medicine followed by postdoctoral training at the Brigham & Women’s Hospital (Division of Genetics) and Harvard Medical School. In 2011 he set up his first laboratory research program at Cincinnati Children’s Hospital in the Division of Human Genetics with a joint appointment in the Division of Developmental Biology. Dr. Stottmann has an enduring interest in the genetics of structural birth defects. He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. He originally trained using mouse genetics to study these issues but has recently added human sequencing projects to the lab portfolio. At Nationwide Children’s, Dr. Stottmann’s lab now uses a combination of human and mouse genetics to identify and study rare genetic variants which cause these congenital malformations. Genome editing tools allow the group to directly model patient variants to assess pathogenicity, study animal models in depth and potentially design therapeutic intervention strategies.

Biography

Rolf Stottmann, PhD, is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an associate professor at The Ohio State University College of Medicine. He joined Nationwide Children’s in 2021. He received a B.S. (Physiology and Neurobiology) and M.S. (Developmental Neurobiology) from the University of Maryland, College Park. Dr. Stottmann pursued dissertation work in the Department of Cell Biology at the Duke University School of Medicine followed by postdoctoral training at the Brigham & Women’s Hospital (Division of Genetics) and Harvard Medical School. In 2011 he set up his first laboratory research program at Cincinnati Children’s Hospital in the Division of Human Genetics with a joint appointment in the Division of Developmental Biology. Dr. Stottmann has an enduring interest in the genetics of structural birth defects. He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. He originally trained using mouse genetics to study these issues but has recently added human sequencing projects to the lab portfolio. At Nationwide Children’s, Dr. Stottmann’s lab now uses a combination of human and mouse genetics to identify and study rare genetic variants which cause these congenital malformations. Genome editing tools allow the group to directly model patient variants to assess pathogenicity, study animal models in depth and potentially design therapeutic intervention strategies.

Biography

Rolf Stottmann, PhD, is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an associate professor at The Ohio State University College of Medicine. He joined Nationwide Children’s in 2021. He received a B.S. (Physiology and Neurobiology) and M.S. (Developmental Neurobiology) from the University of Maryland, College Park. Dr. Stottmann pursued dissertation work in the Department of Cell Biology at the Duke University School of Medicine followed by postdoctoral training at the Brigham & Women’s Hospital (Division of Genetics) and Harvard Medical School. In 2011 he set up his first laboratory research program at Cincinnati Children’s Hospital in the Division of Human Genetics with a joint appointment in the Division of Developmental Biology. Dr. Stottmann has an enduring interest in the genetics of structural birth defects. He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. He originally trained using mouse genetics to study these issues but has recently added human sequencing projects to the lab portfolio. At Nationwide Children’s, Dr. Stottmann’s lab now uses a combination of human and mouse genetics to identify and study rare genetic variants which cause these congenital malformations. Genome editing tools allow the group to directly model patient variants to assess pathogenicity, study animal models in depth and potentially design therapeutic intervention strategies.

Rolf Stottmann, PhD, is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an associate professor at The Ohio State University College of Medicine. He joined Nationwide Children’s in 2021. He received a B.S. (Physiology and Neurobiology) and M.S. (Developmental Neurobiology) from the University of Maryland, College Park. Dr. Stottmann pursued dissertation work in the Department of Cell Biology at the Duke University School of Medicine followed by postdoctoral training at the Brigham & Women’s Hospital (Division of Genetics) and Harvard Medical School. In 2011 he set up his first laboratory research program at Cincinnati Children’s Hospital in the Division of Human Genetics with a joint appointment in the Division of Developmental Biology. Dr. Stottmann has an enduring interest in the genetics of structural birth defects. He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. He originally trained using mouse genetics to study these issues but has recently added human sequencing projects to the lab portfolio. At Nationwide Children’s, Dr. Stottmann’s lab now uses a combination of human and mouse genetics to identify and study rare genetic variants which cause these congenital malformations. Genome editing tools allow the group to directly model patient variants to assess pathogenicity, study animal models in depth and potentially design therapeutic intervention strategies.

Rolf Stottmann, PhD, is a principal investigator in the Institute for Genomic Medicine at Nationwide Children’s Hospital and an associate professor at The Ohio State University College of Medicine. He joined Nationwide Children’s in 2021. He received a B.S. (Physiology and Neurobiology) and M.S. (Developmental Neurobiology) from the University of Maryland, College Park. Dr. Stottmann pursued dissertation work in the Department of Cell Biology at the Duke University School of Medicine followed by postdoctoral training at the Brigham & Women’s Hospital (Division of Genetics) and Harvard Medical School. In 2011 he set up his first laboratory research program at Cincinnati Children’s Hospital in the Division of Human Genetics with a joint appointment in the Division of Developmental Biology.

Dr. Stottmann has an enduring interest in the genetics of structural birth defects. He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. He originally trained using mouse genetics to study these issues but has recently added human sequencing projects to the lab portfolio. At Nationwide Children’s, Dr. Stottmann’s lab now uses a combination of human and mouse genetics to identify and study rare genetic variants which cause these congenital malformations. Genome editing tools allow the group to directly model patient variants to assess pathogenicity, study animal models in depth and potentially design therapeutic intervention strategies.

Academic and Clinical Areas

Stottmann Lab

Principal Investigator

Primary Department

Institute for Genomic Medicine

Academic and Clinical Areas

Stottmann Lab

Principal Investigator

Primary Department

Institute for Genomic Medicine

Academic and Clinical Areas

Stottmann Lab

Principal Investigator

Primary Department

Institute for Genomic Medicine

Stottmann Lab

Principal Investigator

Primary Department

Institute for Genomic Medicine

  • Stottmann Lab
  • Principal Investigator
  • Primary Department
  • Institute for Genomic Medicine

Awards, Honors & Organizations

Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2020 Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2016 Basil O’Connor Scholar, March of Dimes Foundation, 2013 Trustee’s Scholar, Cincinnati Children’s Research Foundation, 2012 Peer Mentor Award, Brigham & Women’s Hospital, 2011 National Research Service Award for Postdoctoral Fellows, NICHD, 2007 National Research Service Award for Predoctoral Fellows, NINDS, 2002

Awards, Honors & Organizations

Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2020 Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2016 Basil O’Connor Scholar, March of Dimes Foundation, 2013 Trustee’s Scholar, Cincinnati Children’s Research Foundation, 2012 Peer Mentor Award, Brigham & Women’s Hospital, 2011 National Research Service Award for Postdoctoral Fellows, NICHD, 2007 National Research Service Award for Predoctoral Fellows, NINDS, 2002

Awards, Honors & Organizations

Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2020 Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2016 Basil O’Connor Scholar, March of Dimes Foundation, 2013 Trustee’s Scholar, Cincinnati Children’s Research Foundation, 2012 Peer Mentor Award, Brigham & Women’s Hospital, 2011 National Research Service Award for Postdoctoral Fellows, NICHD, 2007 National Research Service Award for Predoctoral Fellows, NINDS, 2002

Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2020 Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2016 Basil O’Connor Scholar, March of Dimes Foundation, 2013 Trustee’s Scholar, Cincinnati Children’s Research Foundation, 2012 Peer Mentor Award, Brigham & Women’s Hospital, 2011 National Research Service Award for Postdoctoral Fellows, NICHD, 2007 National Research Service Award for Predoctoral Fellows, NINDS, 2002

  • Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2020
  • Division of Human Genetics, Paper of the Year, Cincinnati Childrens Research Foundation Annual Report, 2016
  • Basil O’Connor Scholar, March of Dimes Foundation, 2013
  • Trustee’s Scholar, Cincinnati Children’s Research Foundation, 2012
  • Peer Mentor Award, Brigham & Women’s Hospital, 2011
  • National Research Service Award for Postdoctoral Fellows, NICHD, 2007
  • National Research Service Award for Predoctoral Fellows, NINDS, 2002

Research

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

Publications

                  Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

                


                  Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;  

                


                  Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;  

                


                  Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

                


                  Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

                


                  Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

                


                  Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

                


                  Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9: 

                


                  Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

                


                  Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13: 

                


                  Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

                


                  Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

                


                  Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

                


                  Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

                


                  Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8: 

                


                  DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

View More Publications

Research

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

Publications

                  Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

                


                  Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;  

                


                  Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;  

                


                  Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

                


                  Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

                


                  Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

                


                  Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

                


                  Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9: 

                


                  Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

                


                  Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13: 

                


                  Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

                


                  Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

                


                  Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

                


                  Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

                


                  Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8: 

                


                  DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

View More Publications

Research

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

Publications

                  Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

                


                  Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;  

                


                  Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;  

                


                  Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

                


                  Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

                


                  Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

                


                  Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

                


                  Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9: 

                


                  Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

                


                  Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13: 

                


                  Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

                


                  Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

                


                  Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

                


                  Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

                


                  Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8: 

                


                  DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

View More Publications

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

Publications

                  Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

                


                  Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;  

                


                  Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;  

                


                  Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

                


                  Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

                


                  Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

                


                  Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

                


                  Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9: 

                


                  Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

                


                  Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13: 

                


                  Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

                


                  Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

                


                  Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

                


                  Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

                


                  Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8: 

                


                  DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

View More Publications

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

                  Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

                


                  Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;  

                


                  Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;  

                


                  Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

                


                  Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

                


                  Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

                


                  Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

                


                  Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9: 

                


                  Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

                


                  Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13: 

                


                  Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

                


                  Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

                


                  Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

                


                  Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

                


                  Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8: 

                


                  DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

View More Publications

Interests

craniofacial genetics mutagenesis next generation sequencing Structural Brain Malformations

  • craniofacial genetics

  • mutagenesis

  • next generation sequencing

  • Structural Brain Malformations

  • Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Am J Med Genet A. 2022 Nov; 188: 3262-3277.

  • Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 Oct 20;

  • Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. Am J Med Genet A. 2022 Mar 29;

  • Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM. Robin sequence without cleft palate: Genetic diagnoses and management implications. Am J Med Genet A. 2022 Jan; 188: 160-177.

  • Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 Jan; 188: 104-115.

  • Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C, Italian Undiagnosed Diseases Network., Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2022 Jan 13; 3: 100072.

  • Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network., Westerfield M, De Matteis MA, Lee B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 Sep 2; 108: 1710-1724.

  • Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW. A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression. J Dev Biol. 2021 Jul 7; 9:

  • Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Am J Med Genet A. 2021 Feb; 185: 413-423.

  • Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech. 2020 Oct 30; 13:

  • Lukacs M, Blizzard LE, Stottmann RW. CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model. Hum Mol Genet. 2020 May 8; 29: 1205-1217.

  • Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants. PLoS Genet. 2019 Nov; 15: e1008467.

  • Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3; 105: 689-705.

  • Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Differential requirements of tubulin genes in mammalian forebrain development. PLoS Genet. 2019 Aug; 15: e1008243.

  • Lukacs M, Roberts T, Chatuverdi P, Stottmann RW. Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. Elife. 2019 Jun 24; 8:

  • DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15; 26: 4836-4848.

Education

Date of Appointment at Nationwide Children’s Hospital: 06/07/2021

Postdoctoral Training

HARVARD MEDICAL SCHOOL

Date Completed: 01/01/2011

Graduate School

DUKE UNIVERSITY SCHOOL OF MEDICINE

Date Completed: 01/01/2004

Undergraduate School

University of Maryland

Date Completed: 05/31/1995

Education

Date of Appointment at Nationwide Children’s Hospital: 06/07/2021

Postdoctoral Training

HARVARD MEDICAL SCHOOL

Date Completed: 01/01/2011

Graduate School

DUKE UNIVERSITY SCHOOL OF MEDICINE

Date Completed: 01/01/2004

Undergraduate School

University of Maryland

Date Completed: 05/31/1995

Education

Date of Appointment at Nationwide Children’s Hospital: 06/07/2021

Postdoctoral Training

HARVARD MEDICAL SCHOOL

Date Completed: 01/01/2011

Graduate School

DUKE UNIVERSITY SCHOOL OF MEDICINE

Date Completed: 01/01/2004

Undergraduate School

University of Maryland

Date Completed: 05/31/1995

Date of Appointment at Nationwide Children’s Hospital: 06/07/2021

Postdoctoral Training

HARVARD MEDICAL SCHOOL

Date Completed: 01/01/2011

Graduate School

DUKE UNIVERSITY SCHOOL OF MEDICINE

Date Completed: 01/01/2004

Undergraduate School

University of Maryland

Date Completed: 05/31/1995

Date of Appointment at Nationwide Children’s Hospital: 06/07/2021

Postdoctoral Training

HARVARD MEDICAL SCHOOL

Date Completed: 01/01/2011

Graduate School

DUKE UNIVERSITY SCHOOL OF MEDICINE

Date Completed: 01/01/2004

Undergraduate School

University of Maryland

Date Completed: 05/31/1995

Professional Experience

2021 - Present Nationwide Children’s Hospital2011 - 2021 Cincinnati Children’s Hospital

Professional Experience

2021 - Present Nationwide Children’s Hospital2011 - 2021 Cincinnati Children’s Hospital

Professional Experience

2021 - Present Nationwide Children’s Hospital2011 - 2021 Cincinnati Children’s Hospital

2021 - Present Nationwide Children’s Hospital2011 - 2021 Cincinnati Children’s Hospital

2021 - Present Nationwide Children’s Hospital

Research Funding

NIH/NIGMS R35GM131875 Molecular analysis of primary cilia protein in human development and disease, Principal Investigator NIH/NIDCR R01DE027091 Forward genetic analysis of congenital craniofacial malformations, Principal Investigator NIH/NICHD R03HD094882 Role of Cholesterol Biosynthesis in Development, Principal Investigator

Research Funding

NIH/NIGMS R35GM131875 Molecular analysis of primary cilia protein in human development and disease, Principal Investigator NIH/NIDCR R01DE027091 Forward genetic analysis of congenital craniofacial malformations, Principal Investigator NIH/NICHD R03HD094882 Role of Cholesterol Biosynthesis in Development, Principal Investigator

Research Funding

NIH/NIGMS R35GM131875 Molecular analysis of primary cilia protein in human development and disease, Principal Investigator NIH/NIDCR R01DE027091 Forward genetic analysis of congenital craniofacial malformations, Principal Investigator NIH/NICHD R03HD094882 Role of Cholesterol Biosynthesis in Development, Principal Investigator

NIH/NIGMS R35GM131875 Molecular analysis of primary cilia protein in human development and disease, Principal Investigator NIH/NIDCR R01DE027091 Forward genetic analysis of congenital craniofacial malformations, Principal Investigator NIH/NICHD R03HD094882 Role of Cholesterol Biosynthesis in Development, Principal Investigator

Molecular analysis of primary cilia protein in human development and disease, Principal Investigator

Forward genetic analysis of congenital craniofacial malformations, Principal Investigator

Role of Cholesterol Biosynthesis in Development, Principal Investigator

Contact Information

Institute for Genomic Medicine

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Institute for Genomic Medicine

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Institute for Genomic Medicine

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)

Institute for Genomic Medicine

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)

Email Rolf W Stottmann

                    700 Children's DriveColumbus, OH 43205 (map)
  • Email Rolf W Stottmann
  • 700 Children’s DriveColumbus, OH 43205 (map)

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