Curriculum vitae

Date: April 15, 2024

Name Christina A. Gurnett, M.D., Ph.D.

Address, Telephone and email:

• Office: 

(314) 454-6120

660 South Euclid, Campus Box 8111,

Washington University in St. Louis

St. Louis, MO  63110

• Home:

(314) 601-4851 (cell)

4 Dromara Road, Ladue, MO  63124

• Email: gurnettc@wustl.edu

Present Position

            A. Ernest and Jane G. Stein Professor of Developmental Neurology       

Professor of Neurology

Director, Division of Pediatric and Developmental Neurology

Washington University in St. Louis

Co-Director, Intellectual and Developmental Disabilities Research Center

Washington University in St. Louis

2018-present

Associate Director, Institute of Clinical and Translational Sciences

Washington University in St. Louis

2016-present

Co-Director, Precision Medicine Pathway for Doctoral Students

Division of Biological and Biomedical Sciences

Washington University in St. Louis

2015-present

Neurologist-in-Chief

St. Louis Children’s Hospital

                        2018-present

Education (list all degrees in forward chronological order)

• Undergraduate
  • 1991; B.S. Biology

University of Notre Dame, Notre Dame, IN

• Graduate
  • 1998; Doctorate of Medicine

University of Iowa, Iowa City, IA

• • 1998; Ph.D., Physiology and Biophysics

“Molecular Interactions and Functional Role of the Voltage-Dependent Calcium Channel”, Kevin Campbell, PhD (mentor)

University of Iowa, Iowa City, IA

• Postgraduate
  • 1998-2000; Pediatrics Residency

University of Iowa, Iowa City, IA

• • 2000-2003; Pediatric Neurology Residency

Barnes-Jewish Hospital and St Louis Children's Hospital,

Washington University Medical School, St Louis, MO

• • 2003-2004; Pediatric Epilepsy Fellowship

St. Louis Children’s Hospital

St. Louis, MO

• • 2017-2018, Barnes-Jewish Children’s (BJC) Hospital

Academic Medical Leadership Program for Physicians and Scientists

Academic Positions / Employment: (list in forward chronological order)

            2004-2006                 Instructor

2006-2012                 Assistant Professor

2012-2016                 Associate Professor with tenure

2017-Present             Professor

Division of Pediatric Neurology

Department of Neurology

Washington University, St. Louis, MO

Clinical Title and Responsibilities

Neurologist-in-Chief

St. Louis Children’s Hospital

2018-present

• • • Attending physician, 4 weeks/year, Epilepsy Monitoring Unit or General Pediatric Neurology Inpatient Service
    • Outpatient clinic, ½ day per week
    • EEG reading, ad hoc

Teaching Title and Responsibilities

Co-Director, Precision Medicine Pathway for Graduate Students, Division of Biology and Biological Sciences

            Bio5487: Genetics and Genomics of Disease, course co-director, 2017-present

Genomics in Medicine Series, 1 lecture, 2020-present

Bio5285: Fundamentals of Mammalian Genetics, 4 lectures, 2008-2015

Bio5663: Neurobiology of Human Disease, 1 lecture, 2008-2010

University, School of Medicine and Hospital Appointments and Committees

Washington University in St Louis:

• Admissions Committee, College of Medicine, Medical School, 2008-2012
• Admissions Committee, Department of Biology and Biomedical Science, 2012-14
• Medical Scientist Training Program Committee, 2014-2017
• Washington University Musculoskeletal Research Center, Internal Advisory Board, 2017-2022
• Hope Center for Neurological Disorders, Steering Committee, 2016-present
• Hope Center Pilot Project Review Committee, 2016-present
• BJC Investigator, Search Committee, 2017-present
• Clinical Trials Working Group, 2017-present
• Washington University, Developmental Biology, Internal Advisory Review Committee, 2018
• SLCH 2130 Clinic Design Team, 2018
• Clinical Operations Committee, Division of Pediatric Neurology, 2018-present
• Promotions Committee, Department of Neurology 2018-present
• Anesthesiology Head, Search Committee, 2018
• ICTS Precision Medicine Core co-leader, 2018-present
• ICTS Strategic Executive Committee, member, 2018-present
• Neuroscience Head, Search Committee, 2019
• Mobile Health Research Core (mRHC), 2019-present
• ICTS Liaison Group, leader, 2019-present
• Faculty Committee for Technology Transfer, 2019-present
• COVID-19 Human Subjects Research Committee, 2020-present
• Anesthesiology T32 Training Program, Advisory Committee, 2020-present
• Internal Medicine Ad Hoc Committee for Promotions, 2020-present
• Provost Strategic Planning Research Enterprise Working Group, 2021-2022
• Psychiatry Chair, Search Committee, 2021
• Bill Danforth/Washington University Physician-Scientist Investigator Initiative Committee, 2021-present
• Clinical Council, Department of Neurology, 2021-present
• Research Council, Department of Neurology, 2021-present
• Psychiatry Ad Hoc Committee for Promotions, 2022-present
• Neurosurgery Ad Hoc Committee for Promotions, 2023-present
• Department of Neurosurgery, Pediatric Neurosurgery Division Chief, Search Committee, 2023
• Department of Radiation Oncology Chair, Search Committee, 2023

St Louis Children’s Hospital:

• Children’s Specialty Care Center Governance Council, St. Louis Children’s Hospital, 2018-2023
• Chief Nursing Officer, Search committee, 2022
• Brain Center Leadership and Strategic Planning Committee, St. Louis Children’s Hospital, 2018-present
• Children’s Medical Executive Committee, St. Louis Children’s Hospital, 2018-present
• Unit Based Joint Practice Team Committee (UBJPT), Neuroscience Unit, St. Louis Children’s Hospital, 2018-present
• Medical Ethics Subcommittee of the Children’s Medical Executive Committee, St. Louis Children’s Hospital, 2018-present

 Medical Licensure and Certification

• American Board of Psychiatry and Neurology: Neurology with Special Qualification in Child Neurology,

Certificate #11431 (Exp 12/2024)

• American Board of Psychiatry and Neurology Subspecialty:  Epilepsy Certification,

Certificate #1501 (Exp 12/2027)

Honors and Awards (include election to select professional societies and year awarded)

            1987               University of Notre Dame Scholar

1990               Alpha Epsilon Delta

1990               Phi Beta Kappa

1991-1993     NIH Medical Scientist Training Program

1994               Alpha Omega Alpha

1994-1997     American Heart Associate Predoctoral Fellowship

1995               Edward Heath Award

1996               Biophysical Society Membrane, Biophysics Award

1997               Affinity Bioreagents Travel Award

2004               Fritz Dreifuss Award, National Epifellows Foundation

2005-2006     Early Career Award, Epilepsy Foundation/Milken Family Foundation

2007               Basil O’Connor Starter Scholar Award, March of Dimes

2007-2011     Children’s Discovery Institute, Faculty Scholar

2017               Academic Medical Leadership Program for Physicians and Scientists

2017               Nicholas Andry Award, Association of Bone and Joint Surgeons

2017               Kappa Delta Ann Doner Vaughn Award, Orthopaedic Research and

Education Foundation

2017               Distinguished Researcher Award, Marfan Foundation

2018               University of Iowa Carver College of Medicine Distinguished Alumni

Award

            2018               A. Ernest and Jane G Stein Professor of Developmental Neurology

            2020               Johnson Memorial Lecture Award, Nationwide Children’s Hospital

            2021               Jean Holowach Thurston Award

            2021-2023     Top Doctor, Castle Connolly

Editorial Responsibilities

Editorial Board Member, Annals of the Child Neurology Society

Editorial Board Member, Pediatric Neurology

Ad hoc reviewer, American Journal of Human Genetics, Human Molecular Genetics,

Clinical Orthopedic Related Research, Journal of Pediatric Orthopedics, Nature Communications, New England Journal of Medicine, Journal of Medical Genetics, European Journal of Human Genetics, Nature Communications       

            Grant review committee member:

NIH, Center for Scientific Review, Genetics of Health and Disease,

NIH, NHLBI, Genetic Basis of Monogenic Disease Review Committee

NIH, Center for Scientific Review, Therapeutic Approaches to Genetic Disease

NIH, Center for Scientific Review, Gabriella Miller Kids First Program

NIH, NINDS, CNCDP-K12 grant review committee and retreat faculty

FDA Orphan Product Grants Program

National Panels, Committees, Boards

2015-present             International Consortium for Spinal Genetics, Development and Disease, Meeting Planning Committee

2018-present             National Institutes of Health, NINDS, Child Neurologist Career Development Program (K12) Committee

2018-present             Professors of Child Neurology, Child Neurology Society

2020-present             Advocating for Access to Genomic Testing, IDDRC workgroup

2020-present             Rapid Acceleration of Diagnostic Testing (RAD-x) in Underserved Populations, National Institutes of Health, Return to School Working Group

Community Service Contributions  

• Academy of Science, St Louis (2018-2022)
  • Program advisor
• Artists First Board Member (2021-present)
• MED13L Board Member (2020-present)
• Professional Societies and Organizations
  • American Society for Human Genetics
  • American Epilepsy Society
  • Child Neurology Society
  • American Neurological Association

Major Invited Professorships and Lectureships

Terry R. Dolan Memorial Lecture, “The Brain Gene Registry, An IDDRC Resource for Rare  Disease Research,” University of Wisconsin, February 23, 2024.

Harvard University/Boston Children’s Hospital Grand Rounds, “The Brain Gene Registry: An IDDRC Resource for Inclusive Rare Disease Research,” Children’s National Medical Center, Washington D.C., January 31, 2024.

DC-IDDRC Seminar Series, “The Brain Gene Registry: An IDDRC Resource for Rare Disease Research,” Children’s National Medical Center, Washington D.C., January 25, 2024.

Psychiatry Grand Rounds, “The Brain Gene Registry: An IDDRC Resource for Rare Disease Research,” Washington University in St Louis, Nov 17, 2023.

IDDRC Directors’ Meeting, “The Brain Gene Registry: An IDDRC Resource for Rare Disease Research,” Children’s National Medical Center, Washington D.C., Nov 17, 2023.

A. Ernest and Jane G. Stein Professorship Installation, “Genetic testing conundrums and the $2.1 million dollar gene therapy,” Eric P Newman Education Center, Washington University in St Louis, June 6, 2023.

Biology Seminar, “Genetic testing conundrums and the $2.1 million dollar gene therapy”, Coe College, April 4, 2023.

RADx-UP National Conference, “Communication strategies to increase SARS-Cov-2 testing uptake in schools for children with intellectual and developmental disabilities were hindered by local pandemic conditions”, virtual presentation, March 16, 2023.

Washington University Intellectual and Developmental Disabilities Research Center: “State of the IDDRC@WUSTL”, Oct 3, 2022.

Hope Center Noon Seminar, “High throughput testing of functional variants to improve patient selection for clinical trials”, October 31, 2022.

National Institutes of Health Pediatric Research Consortium COVID-19 Maternal and Child Health Subgroup “SARS-CoV02 Screening Testing at Schools for Children with Intellectual and Developmental Disabilities”, virtual presentation, Jun 16, 2022.

Washington University Houston Regional Cabinet Annual Meeting, keynote address, “Genomic insight into the developing brain”, May 11, 2022.

Rapid Acceleration of Diagnostic Testing in Underserved Populations, Workgroup for Next Pandemic, National Institutes of Health, Duke University, May 2, 2022.

Glut1 Deficiency Syndrome Research Roundtable, Glut1 Deficiency Foundation, Virtual panelist, April 22, 2022.

Legal Challenges of Precision Medicine: The Role of Genetic Testing, Emerging Issues in Healthcare Law, 23^rd Annual Conference, Panelist, April 28, 2022.

Open Classroom: Supporting Students with Intellectual and Developmental Disabilities During COVID-19, Brown School of Social Work, Washington University, April 6, 2022.

Avioli Musculoskeletal Research Seminar, “Lessons Learned from Inclusion of African Americans in Sequencing Studies of Scoliosis,” Washington University, March 25, 2022.

Hawk-IDDRC Seminar Series: “Deep Mutational Scanning to Quantify Risk for Neurogenetic Disorders”, Feb 23, 2022.

Pediatric Epilepsy Special Interest Group, “Precision Diagnostics: Prediction of Pathogenicity of Variants of Uncertain Significance in Glucose Transporter Deficiency Syndrome Using Deep Mutational Scanning, American Epilepsy Society Annual Meeting, Chicago, IL, Dec 3, 2021.

Bobby Jones Chiari and Syringomyelia Foundation, “Prevalence and impact of underlying

       diagnosis and comorbidities on Chiari 1 malformation,” Dallas, TX, October 16, 2021.

NextGen Precision Health Discovery Series, “The Wash U Precision Health Experience”,

       University of Missouri, July 8, 2021.

NICHD STRIVE Workshop, “Addressing barriers to including children with intellectual and

       developmental disabilities in health disparities research”, July 14, 2021.

Johnson Lectureship/Pediatric Grand Rounds, “Solving the variant of uncertain

        significance problem with deep mutational scans,” Nationwide Children’s Hospital

       Columbus, OH, May 6, 2021.

Department of Molecular Physiology and Biophysics Seminar, “Zebrafish models of distal

        arthrogryposis”, University of Vermont, Apr 26, 2021.

Interagency Coordinating Committee on Fetal Alcohol Spectrum Disorders Annual Meeting,

 “Safe return to school for children with disabilities,” Apr 23, 2021.

Jean Holowach Thurston Award Lecture, “Precision diagnostics for glucose transporter deficiency disorders using deep mutational scanning,” Washington University Department of Neurology, Jan 15, 2021.

Boston Children’s Hospital Neurology Grand Rounds, “Deep mutational scanning to produce “quantitative genotyping” for neurogenetic disorders”, Nov 11, 2020.

Washington University Dallas Fort Worth Regional Cabinet Annual Meeting, keynote address, “Genomic insight into the developing brain”, Feb 6, 2020.

Presidential Symposium, Child Neurology Society Annual Meeting, “Big data solutions to variants of uncertain significance,” Charlotte, NC, Oct 22, 2019.

Department of Molecular Medicine, “Are there overlapping pathological mechanisms in Chiari 1 malformation and scoliosis?” Toronto Sick Kids Hospital, Sept 22, 2019.

International Consortium for Spinal Genetics Development and Disease, “Deep mutational scanning to quantify functional effects of rare variants in scoliosis”, Stockholm, Sweden, Sept 5, 2019.

Center for Clinical Pharmacology Seminar, “High throughput functional testing of human disease gene variants,” St Louis College of Pharmacy, May 2, 2019.

Pediatric Grand Rounds, “Scoliosis, syringomyelia, chiari I malformation, and manganese,” Washington University, Feb 22, 2019.

Genetics Department Seminar, “Scoliosis, syringomyelia, chiari I malformation, and manganese,” Emory University, Jan 7, 2019.

Department of Neurosurgery Grand Rounds, “Scoliosis, syringomyelia, chiari I malformation and manganese,” Washington University in St Louis, Nov 11, 2018.

Physiology and Biophysics Seminar, “De novo genetic variants and the contribution of paternal age to neurodevelopmental disorders,” University of Iowa, Apr 27, 2018

Neurology Grand Rounds, “De novo genetic variants and the contribution of paternal age to neurodevelopmental disorders,” St Louis University, Apr 18, 2018

Pediatric Grand Rounds, “De novo genetic variants and the contribution of paternal age to neurodevelopmental disorders,” Washington University, Aug 18, 2017

Cell Biology Seminar, “Interpreting genetic variants in idiopathic scoliosis,” Duke University, Jun 19, 2017.

Genomic Approaches to Understanding and Treatment of Scoliosis Conference, “Etiologic Overlap Between Congenital and Late-Onset Scoliosis, Scottish Rite Hospital, Dallas, TX. Mar 18, 2017.

Molecular and Medical Genetics Departmental Seminar, “High-throughput functional assays to improve genetic variant interpretation,” Oregon Health and Sciences University, Portland, OR, Oct 13, 2016.

Beattie Lecture, “Contribution of extracellular matrix gene variants and joint hypermobility to idiopathic scoliosis pathogenesis,” Shriners Hospital for Children—Portland Portland, OR, Oct14, 2016.

David W. Smith Workshop on Malformations and Morphogenesis, “Somatic mutations in unilateral clubfoot,” Los Angeles, CA, Sept 12, 2016.

Departmental Seminar, “Contributions of Rare Variants to Idiopathic Scoliosis   Pathogenesis,” Center for Human Disease Modeling, Duke University, Sept 6, 2016.

Deformities of Feet and Spine in Children—Genetic Background and Treatment Essentials, “Genetics in Pediatric Foot Deformities,” Cologne, Germany, Jun 27, 2016.

IDDRC Symposium: Interpretation of Genetic Variants in Rare and Inherited Diseases, “Scientific Tradeoffs Between Clinical and Research Sequencing”, St Louis, MO, Jun 22, 2016.

Autism Seminar Series, “High-throughput functional assays to improve variant interpretation,” Washington University in St Louis, Jan 19, 2016.

Hope Center Research Talk, "Hypotonia and Contractures: Lessons from genetic studies of clubfoot and scoliosis, Washington University in St Louis, Dec 7, 2015.

Elastin, Elastic Fibers and Microfibrils, Gordon Research Conference, “A polygenic burden of rare variants in extracellular matrix genes among individuals with adolescent idiopathic scoliosis,” Biddeford, ME, Jul 29, 2015.

Orthopedic Departmental Seminar, “Musculoskeletal collagen gene variation increases risk of adolescent idiopathic scoliosis,” Stanford University, Jan 20, 2015.

Frontiers in Pediatric Research Seminar, “Understanding the genetic basis of human scoliosis,” University of Iowa, Oct 13, 2014.

International Research Symposium on Marfan Syndrome and Related Disorders, “Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis”, Paris, France, Sept 25, 2014.

Myosin Binding Protein-C: Past, Present, and Future, “Structure and function of skeletal MyBP-C isoforms,” Rush University, Chicago, IL, Jun 6, 2014.

American Epilepsy Society Neurogenetics Skills Workshop, “Neurogenetics Applications to Patient Care,” Washington D.C., Dec20, 2013.

Danforth Symposium for the 75^th Anniversary of March of Dimes, Washington University, “What manatee can teach us about human limb birth defects,” November 20, 2013.

Psychiatry Research Rounds, Washington University, “Genomic copy number variants across the disease spectrum,” Oct 30, 2013.

Pediatric Neurology Seminar, Nationwide Children’s Hospital, “Genetic studies of distal arthrogryposis and pediatric contracture syndromes,” Columbus, OH, March 7, 2013.

American Epilepsy Society Neurogenetics Skills Workshop, “The usefulness of genetics in patient care,” San Diego, CA, Dec 4, 2012.

David W Smith Workshop on Malformations and Morphogenesis, “Copy Number Analysis of 403 clubfoot patients”, Buford, GA, Aug8, 2012.

4^th Annual Australasian Ponseti Clubfoot Meeting, “Update on genetic basis of isolated clubfoot,” Auckland, New Zealand, Mar 30, 2012.

Pediatric Grand Rounds, Washington University, “Direct to Consumer Genetic Testing: Trend or Fad?” Feb 10, 2012.

Neurology Grand Rounds, Washington University “Direct to Consumer Genetic Testing: Trend or Fad?” Jan 6, 2012.

Societe Internationale de Chirurgie Orthopedique et de Traumatologie Triennial World Congress, “Evidence that PITX1 haploinsufficiency causes clubfoot in humans and mice,” Prague, Czechoslovakia, Sept 8, 2011.

From Confusional Arousals to Automatic Behavior Symposium, “The genetics of sleepwalking,” Stanford Sleep Epidemiology Center, Stanford University, Aug 27, 2011.

Lower Extremity Course, Adelaide and Meath Hospital, Trinity College, Dublin, “Genetic pathways involved in clubfoot etiology,” Jun 8, 2011.

Psychiatry Research Rounds, Washington University, “Genetic Basis of Pediatric Spine Deformity,” Jan 12, 2011.

Developmental Biology Research Seminar, Washington University, “Role of PITX1-TBX4 pathway in human limb malformations,” Oct 18, 2010.

Department of Anesthesiology Grand Rounds, Washington University,

“A genomic approach to pediatric musculoskeletal genetics,” Oct 6, 2010.

Advanced Ponseti Treatment for Clubfoot, Rubin Institute for Advanced Orthopedics, Baltimore, Maryland, “Advances in clubfoot genetics,” Sep 2, 2010.

David W. Smith Workshop on Malformations and Morphogenesis, Union, WA, “Evidence that haploinsufficiency of PITX1 causes clubfoot in humans and mice.” Aug 28, 2010.

Neurology Grand Rounds, Washington University in St Louis, “Congenital basis of arthrogryposis and limb contracture syndromes,” Jan 22, 2010.

Pediatric Neurotherapeutics Course, “Genetics of Epilepsy: Is it inherited,” Washington University, St Louis, Sept 21, 2009.

Nemours Clinics Pediatric Grand Rounds, Mayo Clinic at Jacksonville, FL, “Gene discoveries for pediatric musculoskeletal disorders,” Jan 18, 2009.

Musculoskeletal Genetics Symposium, Washington University, St Louis, “HOX gene involvement in human limb birth defects,” Jun 14, 2009.

Genetics Interest Group, American Epilepsy Society Annual Meeting, “Genetic Studies of Epilepsy,” Dec 6, 2009.

Pediatric Neurotherapeutics Course, “Genetics of Epilepsy,” Washington University, St Louis, Nov 2, 2007.

Avioli Bone Conference, Washington University in St Louis, “Gene discovery in pediatric musculoskeletal disorders,” Jul 7, 2007.

Cotrel Fondation for Scoliosis Research, “Role of PITX1 in Limb Development,” Paris, France, Oct 7, 2008.

International Clubfoot Congress, University of Iowa, “Variable hand and food abnormalities in a family with congenital vertical talus and CDMP-1 gene mutations” Sept 11, 2007.

Pediatric Neurology Grand Rounds, Cincinnati Children’s Hospital, “Limb and Limbic: Studies of Pediatric Neurodevelopmental Disorders, Nov 17, 2006.

Neurology Grand Rounds, Washington University in St Louis, “A surge in epilepsy genes: opportunities for clinical and basic research”, Feb 2, 2006.

Early Bird Rounds, St Louis Children’s Hospital, “Management of children with febrile seizures,” Dec 17, 2005.

Epifellows Course, Seattle, WA, “Genetic study of benign familial infantile convulsions, Oct 3, 2005.

Consulting Relationships and Board Memberships

• Artists First Board Member (2021-present)
• Epilepsy Foundation of Missouri and Kansas, Professional Advisory Board, President, (2013-16)
• MED13L Foundation Board Member (2020-present)
• Glut1 Deficiency Syndrome Foundation

Research

Support:

• Governmental

NIH NINDS (Rothman, PI), Neurological Science Academic Development Award (K12), 7/1/04-6/30/07.

NIH Interdisciplinary Research in Women’s Health (Polonsky, PI), Gene discovery in adolescent idiopathic scoliosis (K12), 7/1/07-6/30/10.

National Institute of Health R03HD068649 (Gurnett, PI), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Familial vertical talus exome sequencing, 3/1/12-2/28/15.

National Institutes of Health R01AG044546 (Cruchaga, PI), National Institute of Aging, Identifying rare variants that increase risk for Alzheimer’s Disease, Role: co-investigator, 8/15/13-5/31/18.

National Institutes of Health, 3UL1TR002345-04S3 (Powderly), NCATS, Washington University Institute of Clinical and Translational Sciences, All of Us Lite, Role: Co-I, 9/1/20-2/28/21.

National Institutes of Health U54HD087011 (Constantino and Gurnett, co-PI), Eunice Kennedy Shriver National Institutes of Child Health and Human Development, Washington University Intellectual and Developmental Disabilities Research Center, Role: Clinical and Translational Core Director, 9/18/15-5/20.

National Institutes of Health 3P50HD13525-01S1 (Gurnett and Newland, MPI), NICHD, IDDRC—Supporting the health and well-being of children with Intellectual and Developmental Disabilities, Role: MPI, 9/22/20-5/31/23, $4,999,996.

National Institutes of Health R03HD104065 (Gurnett and Johnson, MPI), NICHD, An in vivo platform to characterize variants associated with congenital pediatric disorders, Role: MPI, 4/1/21-3/31/23, $261,933. 

National Institutes of Health, OT2HD107556-01(Gurnett, Kalb, Newland, MPI), NICHD, WUIDDRC and KKI Safe Return to School, Role: MPI, 4/15/21-9/30/23, $2,680,123.

National Institute of Health U01TR002764 (Payne, PI), National Center for Accelerating Translational Science, Harnessing Clinical Genomic Characterization to Accelerate Translational Advances for Patients with IDD, Role: Co-investigator, 5/6/20-4/30/24, $5,966,575.

National Institutes of Health P01HD084387-01 (Solnica-Krezel, PI), Eunice Kennedy Shriver National Institutes of Child Health and Human Development, funded, Forward and Reverse Genetic Studies of AIS and Spine Development in Zebrafish, Role: Co-investigator, 9/1/16-6/1/27, $2,285,119.

National Institute of Health R01AR067715 (Gurnett and Dobbs, MPI), National Institute of Arthritis and Musculoskeletal and Skin Disease, Genetic risk factors for severe scoliosis, 6/20/15-7/31/25, $3,248,850.

National Institutes of Health P50HD103525 (Gurnett and Dougherty, MPI), Eunice Kennedy Shriver National Institutes of Child Health and Human Development, Washington University Intellectual and Developmental Disabilities Research Center, Role: Co-Director, 7/01/20-5/31/25, $6,284,586.

National Institutes of Health UL1TR002345-01 (Powderly, PI), National Center for Advancing Translational Science, Washington University Institute of Clinical Translational Sciences, Role: Associate Director, 6/19/17-2/28/27, $54,952,825.

National Institutes of Health R25NS125604 (Gurnett, Richards, MPIs), National Institute for Neurological Diseases and Stroke, St Louis Summer Research Immersion Program, Role: Co-PI, 1/15/23-12/31/27, $675,000.

• Non-governmental

Epifellows Foundation Research Grant (Gurnett, PI), 7/1/04-6/30/05, $20,000.

Early Career Award of the American Epilepsy Society/Milken Family Foundation (Gurnett, PI), 1/1/06-12/31/07, $100,000.

Children’s Discovery Institute Faculty Scholar, St Louis, MO (Gurnett, PI) Musculoskeletal genetics, 2/1/07-1/31/10, $200,000.

March of Dimes Basil O’Connor Starter Scholar Research Award

(Gurnett, PI), Gene discovery in idiopathic clubfoot, 2/1/08-1/31/11, $150,000.

Multiple Sclerosis Society Pilot Grant (Gurnett, PI), Genetic linkage analysis of a large Amish family with multiple sclerosis, 5/1/08-4/30/09, $40,000.

Orthopedic Research and Education Foundation (Dobbs, PI, Gurnett, co-investigator), Characterization of PITX1 in mendelian and complex inherited lower limb malformations, 7/1/09-6/30/12, $225,000.

W.M. Keck Postdoctoral Program in Molecular Medicine (for David Alvarado, PhD; Gurnett, mentor), Genomic approaches for clubfoot gene discovery, 7/1/11-6/30/12, $25,000.

Shriners Hospital (Gurnett and Dobbs, co-PI), Genome-wide analysis of idiopathic clubfoot, 1/1/10-12/31/13, $900,000.

Shriners Hospital (Gurnett and Dobbs, Co-PI), Vertical talus exome sequencing, 1/1/12-12/31/13, $120,000.

Children’s Discovery Institute Research Grant (Gurnett and Goldsmith, Co-PI), Genetic studies of scoliosis etiology in humans and zebrafish, 2/1/12-1/31/15, $450,000.

Shriners Hospital Fellowship (for David Alvarado, PhD; Gurnett, mentor), Genomic approaches for clubfoot gene discovery, 7/1/11-6/30/14, $195,000.

Shriners Hospital (Gurnett and Dobbs, Co-PI), A genomic approach to adolescent idiopathic scoliosis, 1/1/12-12/31/15, $900,000.

Shriners Hospital Fellowship (for Gabe Haller, PhD; Gurnett, mentor), Genomic approaches for clubfoot gene discovery, 1/1/14-12/31/16, $195,000.

University of Missouri Spinal Cord Injury Research Program (Gurnett, PI), Genetic investigation of pediatric spinal deformity, 7/1/14-6/30/16,

$250,000.

Marfan Foundation Postdoctoral Fellowship (for David Alvarado, PhD; Gurnett, PI), Expanding the spectrum of fibrillin mutations in Marfan Syndrome and related disorders, 7/1/14-6/30/16, $100,000.

Marfan Foundation Research Grant (Gurnett, PI), Zebrafish models of human fibrillinopathies, 1/1/16-12/31/18, $100,000.

Children’s Discovery Institute, (Solnica-Krezel, PI), Zebrafish models for Pediatric Research Services Cooperative (ZRSC), 1/1/16-11/30/17, $10,000.

Shriners Hospital Fellowship (for Ashley Quiggle, PhD; Gurnett and Dobbs, co-mentors), Gene discovery for adolescent idiopathic scoliosis, 7/1/17-6/30/19, $120,000.

University of Missouri Spinal Cord Injury Research Program (Gurnett, PI), Gene discovery in syringomyelia and Chiari I malformation, 4/1/16-3/31/19, $500,000.

Shriners Hospital (Steven Mumm, PI), Genetic modifiers of hypophophatasia, 1/1/18-12/31/21, $230,000.

Children’s Discovery Institute Large-Scale Initiative (Dustin Baldridge, PI), High-throughput, large-scale functional genomics of genetic variation in pediatric cancer, 7/1/18-6/30/21, $1,500,000.

National MPS Society (Patricia Dickson, PI), Classification of IDS gene variants using saturation genome editing, 1/1/20-12/31/20, $100,000.

Avery Family Research Fund for Genetically Driven Developmental Disorders (Gurnett, PI), 6/30/21-7/1/23, $375,000.

Million Dollar Bike Ride Grant Program (Gurnett, PI), Multiplex analysis of variant effects for SLC2A1, 2/1/22-1/31/23, $64,465.

The Sherman and Joyce Scott Family Foundation Cerebral Palsy Research Fund (Gurnett, PI), 10/1/22-9/30/24, $500,000.

Trainee/Mentee/Sponsorship Record:

Doctoral graduate students, thesis advisor:

• Jillian Buchan, Molecular Genetics and Genomics, defended April 17, 2014, “Genomic analysis of human spinal deformity and characterization of a zebrafish disease model”.
• Lilian Antunes, Human Statistical Genetics, defended December 7, 2020, “Genetics of musculoskeletal disease”.
• Julia Whittle, Developmental Biology, defended Sept 2, 2022, “Generation, Characterization, and Treatment of Functional Zebrafish Models for Musculoskeletal Disorders”.

Rotating graduate students

• • Titi Akinwe, Molecular Genetics and Genomics, Fall 2022
  • Julie Choi, Molecular Genetics and Genomics, Fall 2021
  • Joseph Bradley, Human Statistical Genetics, Winter 2021
  • Sharon Freshour, Human Statistical Genetics, Winter 2019
  • Keigo Takahashi, Molecular Genetics and Genomics, Fall 2018
  • Gervette Penny, Molecular Genetics and Genomics, Spring 2017
  • Lilian Antunes, Human Statistical Genetics, Winter 2014
  • Rebecca Ouwenga, Molecular Genetics and Genomics, Spring 2013
  • Terrin Budine, Developmental Biology, Spring 2013
  • Janet Cady, Human and Statistical Genetics, Spring 2010
  • Jillian Buchan, Molecular Genetics and Genomics, Spring 2010
  • Patrick Gonzales, Molecular Genetics and Genomics, Fall 2009

Masters students

• Lisa Bauman Kruse, MD, Doris Duke Fellow (2008-2009)
• Laura Merrill, MA, Doris Duke Fellow (2009-2010)
• Brian Leon-Ricardo, Computational and Systems Biology, (2018-2019)

Post-doctoral fellows

• • Naimeh (Mojgan) Tayebi, PhD (2020-present)
  • Wu-lin Charng, PhD, Washington University in St Louis (2018-present)
  • Ashley Quiggle, PhD, Washington University in St Louis (2016-2020)
  • Brooke Sadler, PhD, Washington University in St Louis (2016-2019)
  • Gabe Haller, PhD, Assist Prof, Washington University (2013-2019)
  • Kyungsoo Ha, PhD, Res Assoc, Baylor University, (2012-2013)
  • David Alvarado, PhD, Merck, (2010-2016)
  • Mathula Thangarajh, MD, PhD, Virginia Commonwealth Univ, (2011-2013)
  • Farhang Alaee, MD, Univ of Connecticuit, (2007-2008)
  • Natalie Gomez-Silvero, MD, University of Buenos Aires (2007-2008)

Undergraduate students

• Isabel Shrestha (2021-2023) Washington University in St Louis
• Addie Avery (2020-2021) Washington University in St Louis
• Mya Harris (2017-2018) Washington University in St Louis
• Zachary Upshaw (2017-2019) Washington University in St Louis
• Alexis Svoboda (2016) Washington University in St Louis
• Samuel Rudnick (2015-6) Northwestern University
• John Weiser (2014-5) Washington University in St Louis
• Xavier Bledsoe (2014-18) Princeton University
• Justin Ho (2014-5)  Washington University in St Louis
• Lydia Burgert (2013-2014), Hochschule Mannheim-University of Applied Sciences
• Gary Huang (2012-2013), Washington University in St Louis
• Jason Huang (2009-2013), Washington University in St Louis
• Matthew Techy (2009-2011), Washington University in St Louis
• Hanwool Ryan Choi (2007-2008), Washington University in St Louis
• Zachary Meyer (2007-2010), Washington University in St Louis

High School students

• Kaylee Green (2019)
• Hannah Oppenheim (2008)
• Madeline Farrell (2007)

Preliminary Exam Committee

• Sarah Amend, Molecular Genetics and Genomics, December 2011
• Tae-Hwi (Linus) An, Human Statistical Genetics, March 2011
• Janet Cady, Human and Statistical Genetics, September 2011
• Terine Budine, Developmental Biology, December 2013
• Kuan-lin Huang, Molecular Genetics and Genomics, October 2014
• Nathan Kopp, Human Statistical Genetics, June 2015
• Linda Johnson, MSTP/Molecular Genetics and Genomics, August 2016
• Julie Choi, Human Statistical Genetics, June 2022
• Joseph Bradley, Human Statistical Genetics, June 2023

PhD Thesis Committee

• Joseph Bradley, Carlos Cruchaga, mentor
• Mari Gachechiladze, Joe Dougherty, mentor
• Laura Baratta, Thomas Kannampallil, mentor
• Sneha Chaturvedi, Joe Dougherty, mentor
• Megan Richters, Dan Link, mentor, defended August 2023
• Jamison Leid, Kory Levin, mentor, defended May 2023
• Hao Chen, Neuroscience, Albert Kim, mentor, defended August 2023
• James Shepherdson, Barak Cohen, mentor, defended January 2024
• Bernard Mulvey, Neuroscience, Joseph Dougherty, mentor, graduated Feb 2022.       
• Wendell Jones, Molecular Genetics and Genomics, Steve Basnett, mentor, graduated November 2018.
• Zeran Li, Computational and Systems Biology, Carlos Cruchaga, mentor, graduated Feb 2019.
• Min Jung, Human Statistical Genetics, Don Conrad, mentor, graduated June 2019.
• Linda Johnson, MSTP/Human Statistical Genetics, Laura Bierut, mentor, graduated October 2018.
• Colby Chiang, Molecular Genetics and Genomics, Ira Hall, mentor, graduated May 2017.
• Yedda Li, Developmental Biology, Mark Sands, mentor, graduated Aug 2018.
• Nathan Kopp, Molecular Genetics and Genomics, Joseph Dougherty, mentor, graduated June 2019.
• Damien Abreu, MSTP/Molecular Genetics and Genomics, Fumihiko Urano, mentor, graduated May 2019.
• Amy Wilfert, Human Statistical Genetics, Donald Conrad, mentor, graduated Dec 2016.
• Janet Cady, Human Statistical Genetics, Matt Harms, mentor, graduated June 2014.
• Yinzi Liu, Developmental Biology, Lila Solnica-Krezel, mentor, graduated Nov 2014.
• Emily Olfson, Human and Statistical Genetics, Laura Beirut, mentor, graduated November 7, 2014.
• Peng Lin, Human and Statistical Genetics, John Rice, mentor, graduated June 30, 2011.
• Tian-Xiao Zhang, Computational Biology Program, John Rice, mentor, graduated April 29, 2016.
• Tara Rao, MSTP/Human Statistical Genetics, Mike Province, mentor,  graduated May 14, 2015.
• Catherine Jordan, MSTP/Human Statistical Genetics, Anne Bowcock, mentor, graduated June 1, 2012.
• Tom O’Reilly Pol, Stephen Johnson, mentor, graduated October 9, 2012.

Research Mentor Committee

• Jiuann-Huey Lin (Ivy), Fellow, Department of Pediatrics.
• Kristin Guilliams, K23, Department of Neurology.
• Jennifer Heeley, Fellow, Medical Genetics, Department of Pediatrics.
• Dustin Baldridge, K08, Department of Neurology.
• Cynthia Ortinau, K23, Department of Pediatrics.
• Natasha Strande, Genetics, Geisinger Health Care System.
• Tychele Turner, Faculty, Department of Genetics.
• Harrison Gebel, Faculty, Department of Neuroscience.
• Aaron Johnson, Faculty, Department of Developmental Biology.
• Regina Triplett, KL2, Department of Neurology.
• Jordan Cole, K12, Department of Neurology.
• Mai Dang, K08, Department of Neurology.

Patents

Christina Gurnett, Gabe Haller, Matthew Dobbs, and David Alvarado.  Compositions and methods for the construction for a random allelic series. U.S Patent 9,868,947, filed on 5/4/16, issued on 1/16/18.

Bibliography:

a. Peer reviewed manuscripts

1. Scott VES, Gurnett CA, Campbell KP, Overlay and bead assay.  Determination of calcium channel subunit interaction domains, Methods Mol Biol 1988: 88:71-85.

2. Gurnett  CA, Whiteis CA, Pardini BJ, Schmid PG, Norepinephrine release from guinea pig cardiac sympathetic nerves is sensitive to ryanodine under physiological conditions, Brain Res 1993: 612 (1-2) :238-242.

3. Gurnett CA, Kahl SD, Anderson RD, Campbell KP, Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice, J Biol Chem 1995: 270: 9035-9038.

4. Gurnett CA, De Waard M, Campbell KP, Dual function of the Ca²⁺ channel alpha₂delta subunit in current stimulation and subunit interactions, Neuron 1996: 16: 43-440.

5. Scott VES, De Waard M, Liu H, Gurnett CA, Vezke DP, Lennon VA, and Campbell KP, Beta subunit heterogeneity in N-type Ca²⁺ channels, J Biol Chem 1996: 271: 3207-3212.

6. Liu H, De Waard M, Scott VES, Gurnett CA, Lennon VA, Campbell KP, Identification of three subunits of the high affinity w-conotoxin MVIIC sensitive Ca²⁺ channels, J Biol Chem 1996: 271: 1308-1310.

7. Liu H, Felix R, Gurnett CA, Witcher WR,Campbell KP, Expression and subunit interaction of voltage-dependent Ca²⁺ channels in PC12 cells, J Neurosci 1996: 16(23): 7557-7565.

8. Gurnett CA, Campbell KP, Transmembrane auxiliary subunits of voltage dependent ion channels, J Biol Chem 1996: 271:27975-27978.

9. De Waard M, Liu H, Walker D, Scott VES, Gurnett CA, Campbell KP, Direct binding of G protein complex to voltage-dependent Ca²⁺ channels, Nature 1996: 385:446-450.

10. Fahlke C, Knittle T, Gurnett CA, Campbell KP, George AL, Subunit stoichiometry of human muscle chloride channels, J Gen Physiol

1997: 109:93-104.

11. Gurnett CA, Felix R, Campbell KP, Extracellular interactions of the voltage dependent Ca²⁺ channel ₂ and ₁ subunits, J Biol Chem 1997: 272: 18508-18512.

12. Felix R, Gurnett CA, De Waard M, Campbell KP, Dissection of functional domains of the voltage-dependent Ca2+ channel alpha2delta subunit, J Neurosci 1997: 17(18): 6884-91.

13. Dobbs MB, Morcuende JA, Gurnett CA, Ponseti IV, Treatment of idiopathic clubfoot: an historical review, Iowa Orthop J 2000: 20:59-64.

14. Gurnett CA, Atkins DL, Successful use of a biphasic waveform automated external defibrillator in a high risk child, Am J Cardiol 2000: 86(9): 1051-3.

15. Dobbs MB, Dietz FR, Gurnett CA, Morcuende JA, Steyers CM, Murray JC, Localization of dominantly inherited isolated triphalangeal thumb to chromosome region 7q36, J Orthop Res 2001: 18(3): 304-4.

16. Ahern CA, Arikkath J, Vallejo P, Gurnett CA, Powers PA, Campbell KP, Coronado R, Intramembrane charge movements and excitation-contraction coupling expressed by two-domain fragments of the Ca2+ channel, Proc Natl Acad Sci USA 2001: 98(12): 6935-40.

17. Gurnett CA, Landt M, Wong M, Analysis of cerebrospinal fluid glial fibrillary acidic protein after seizures in children, Epilepsia 2003: 44 (11): 1455-1458.

18. Dobbs MB, Rudzki JR, Purcell DB, Walton T, Porter KR, Gurnett CA, Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeet, J Bone Joint Surg Am 2004: 86-A(1): 220-7.

19. Gurnett CA, Bodner J, Neil J, Connolly AM, Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy, J Child Neurol 2004: 19(3): 175-82.

20. Dobbs MB, Walton T, Gordon JE, Schoenecker PL, Gurnett CA, Flexor digitorum accessorius longus muscle is associated with familial congenital clubfoot, J Ped Ortho 2005: 25(3): 357-9.

21. Dobbs MB, Gurnett CA, Robarge J, Gordon JE, Morcuende JA, Bowcock  AM. Variable hand and foot abnormalities in family with congential vertical talus and CDMP-1 mutation, J Ortho Res 2005: 23(6): 1490-4.

22. Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM. HOXD10 M319K mutation in a family with isolated congenital vertical talus, J Ortho Res 2006: 24(3): 448-453.

23. Ma S, Blair MA, Abou-Khalil B, Lagrange AH, Gurnett CA, Hedera P. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Epilepsy Res 2006: 71:129-134.

24. Gurnett CA, Dobbs MB, Nordsieck EJ, Keppel C, Goldfarb CA, Morcuende JA, Bowcock AM. Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3, Am J Med Genet A 2006: 140:1744-1748.

25. Gurnett CA, Dobbs MB, Keppel CR, Pincus ER, Jansen, LA, Bowcock AM. Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3, Neurogenetics 2007: 8: 61-63.

26.  Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly, Am J Med Genet A, 2007: 143: 27-32.

27. Gurnett CA, Keppel C, Bick J, Bowcock AM, Dobbs MB. Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus. Clin Orthop Relat Res 2007: 462: 27-31.

28. Dobbs MB, Boehm S, Grange DK, Gurnett CA. Case report: congenital knee dislocation in a patient with Larsen syndrome and a novel filamin B mutation. Clin Orthop Relat Res 2008: 50(7): 498-502.

29. Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A. Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. Arch Neurol 2008: 65(4): 550-3.

30. Gurnett CA, Boehm S, Connolly A, Reimschisel T, Dobbs MB. Impact of congenital talipes equinovarus etiology on treatment outcomes, Dev Med Child Neurol 2008: 50(7): 498-502.

31. Kruse L, Dobbs MB, Gurnett CA. Polygenic threshold model with gender dimorphism in clubfoot inheritance: The Carter effect, J Bone Joint Surg Am 2008: 90(12): 2688-94.

32. Bassuk AG, Wallace RW, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti H. A homozygous mutation in human PRICKLE1 causes an autosomal recessive progressive myoclonus-ataxia syndrome, Am J Hum Genet 2008: 83(5): 572-81.

33. Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Asymmetric lower limb malformations in individuals with homeobox PITX1 gene mutations, Am J Hum Genet 2008: 83(5): 616-22.

34. Gurnett CA, Alaee F, Bowcock AM, Kruse L, Lenke LG, Bridwell KH, Kukio T, Luhmann SJ, Dobbs MB, Genetic linkage localizes the adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18q, Spine 2009: 34(2): E94-100.

35. Gurnett CA, Alaee F, Bick J, Gomez-Silvero N, Dobbs MB. Skeletal muscle contractile gene (TNNT3, MYH3, and TPM2) mutations are not found in familial vertical talus and congenital clubfoot, Clin Orthop Relat Res 2009: 467(5): 1195-2000.

36. Kruse L, Gurnett CA, Hootnick D, Dobbs MB. Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study, Clin Orthop Relat Res 2009: 467(5): 1250-5.

37. Gerlach DJ, Gurnett CA, Limpaphayom N, Alaee F, Zhang Z, Porter K, Kirchhofer M, Smyth MD, Dobbs MB. Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele, J Bone Joint Surg Am 2009: 91(6): 1350-9.

38. Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messenger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma, Science 2009: 325(5943): 965.

39. Singh NA, Pappas C, Dahle EJ, Claes LRF, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White S, Fillous F, Leppert MF. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier or Dravet syndrome, PLOS Genetics 2009: 5(9): e1000649.

40. Scheuttpelz LG, McDonald S, Whitesell K, Desruisseau D, Grange DK, Gurnett CA, Wilson DB. Pilocytic astrocytoma in a child with Noonan syndrome, Pediatr Blood Cancer 2009: 53(6): 1147-9.

41. Ester AR, Weymouth KS, Burt A, Wise CA, Scott A, Gurnett CA, Dobbs MB, Blanton SH, Hecht JT. Aletered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Am J Med Genet A 2009: 149A(12): 2745-52.

42. Kruse L, Gurnett CA, Hootnick D, Dobbs MB. Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study, Clin Orthop Relat Res 2009: 467(5): 1250-5.

43. Merrill L, Gurnett CA, Connolly AM, Pestronk A, Dobbs MB. Skeletal muscle abnormalities and genetic factors related to vertical talus. Clin Orthop Relat Res 2010: 469(4): 1167-74.

44. Shyy W, Wang K, Gurnett CA, Dobbs MB, Miller NH, Wise C, Sheffield VC, Morcuende JA. Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis, J Pediatr Orthop 2010: 30(6): 539-43.

45. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler E.  Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepies, PLoS Genetics 2010: 6(5): e1000962.

46. Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA.  Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4, Am J Hum Genet 2010: 87(1): 154-160.

47. Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet 2010: 19(7): 1165-73.

48. Merrill LJ, Gurnett CA, Siegel M, Sonavane S, Dobbs MB.  Vascular abnormalities correlate with decreased soft tissue volumes in idiopathic clubfoot, Clin Orthop Relat Res 2011: 469(5): 1442-9.

49. Sharma S, Gao X, Londono D, Devroy SE, Mauldin KN, Frankel JT, Brandon JM, Zhang D, Li QZ, Dobbs MB, Gurnett CA, Grant SF, Hakonarson H, Dormans S, Herring JA, Gordon D, Wise CA. Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes, Hum Mol Genet 2011: 20(7): 1456-66.

50. Licis AK, Desruisseau DM, Yamada KA, Duntley SP, Gurnett CA.  Novel genetic findings in an extended family pedigree with sleepwalking, Neurology 2011: 76(1): 49-52.

51. Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG. Mutations in prickle orthologs cause seizures in flies, mice, and humans, Am J Hum Genet 2011: 88(2):138-49.

52. Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1, J Bone Joint Surg Am  2011: 93(11): 1045-50.

53. Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL, Kearney JA. Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility, Proc Natl Acad Sci USA 2011: 108(13): 5443-8.

54. McGregor TL, Gurnett CA, Dobbs MB, Wise CA, Morcuende JA, Morgan TM, Menon R, Muglia LJ. Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype, BMC Med Genet 2011: 12(1): 92.

55. Weymouth KS, Blanton SH, Bamshad MH, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT.  Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot, Am J Med Genet A, 2011: 155A(9):2170-9.

56. Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function, Eur J Hum Genet 2011: 19(12):1238-45.

57. Alvarado DM, McCall K, Aferol H, Silva MH, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB,Gurnett CA. Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, Hum Mol Genet 2011: 20(20):3943-52.

58. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohamed S, Muller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock A, Szepetowski P, Fu YH, Ptacek LJ. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions, Cell Rep, 2012:1:2-12.

59. Vydyanath A, Gurnett CA, Marston S, Luther PK. Axial distribution of myosin binding protein C is unaffected by mutations in human and cardiac skeletal muscle, J Muscle Res Cell Motil, 2012: 33(1):61-74.

60. Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA. Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development, Eur J Hum Genet, 2012: 21(4):373-80.

61. Kruse LM, Buchan JG, Gurnett CA, Dobbs MB.  Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect, J Bone Joint Surg Am, 2012: 94(16):1485-91.

62. Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, Manak JR, Copy number variation analysis implicates the cell polarity gene glyipcan 5 as a human spina bifida candidate gene, Hum Mol Genet, 2012: 22(6):1097-111.

63. Dahiya S, Haydon DH, Alvarado D, Gurnett CA, Gutmann DH, Leonard JR.  BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma, Acta Neuropathol, 2013: 125(6):901-10.

64. Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA. MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis, Hum Mol Genet, 2013: 22(24):4967-77.

65. Vanoye CG, Gurnett CA, Holland KD, George AL, Kearney JA. Novel SCN3A variants associated with focal epilepsy in children, Neurobiol Dis, 2013: 62:313-322.

66. Kasasbeh AS, Gurnett CA, Smyth MD. Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature, Childs Nerv Syst, 2014: 30(3):497-503.

67. Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA. Multiplexed direct genomic selection (MDiGS): A pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection, Nucleic Acids Res, 2014: 42(10):e82.

68. Zhang TX, Haller G, Lin P, Alvarado DM, Hecht JT, Blanton SH, Richards S, Rice JP, Dobbs MB, Gurnett CA.  Genome-wide association study identifies new disease loci for isolated clubfoot, J Med Genet, 2014: 51(5):334-9.

69. Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA. Are copy number variants associated with adolescent idiopathic scoliosis?, Clin Orthop Relat Res, 2014: 472(10):3216-25.

70. Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB. Soft-tissue abnormalities associated with treatment resistant and treatment-responsive clubfoot: findings of MRI analysis, J Bone Joint Surg Am, 2014: 96(14):1249-1256.

71. Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang, N, Lam T, Ng BK, Cheng JC, Dobbs MB, Gurnett CA. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis, Hum Mol Genet, 2014: 23(19):5271-82.

72. Buchan JG, Gray RS, Gansner JM, Alvarado DM, Burgert L, Gitlin JD, Gurnett CA, Goldsmith MI. Kinesin family member 6 (kif6) is necessary for spine development in zebrafish, Dev Dyn, 2014: 243(12):1646-57.

73. Baschal EE, Wethey CI, Swindle K, Baschal RM, Gowan K, Tang NL, Alvarado DM, Haller GE, Dobbs MB, Taylor MR, Gurnett CA, Jones KL, Miller NH. Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis, G3, 2014: 5(2):167-74.

74. Londono D, Kou I, Johnston TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group, TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA. A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups, J Med Genet, 2015: 51 (6):401-6.

75.  Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. De novo mutations in SIK1 cause a spectrum of developmental epilepsies, Am J Hum Genet, 2015: 96 (4):682-90.

76. Haller GE, Alvarado DM, Willing MC, Bridwell KH, Kelly M, Luhmann SJ, Lenke LG, Gurnett CA, Dobbs MB. Genetic risk for aortic aneurysm in adolescent idiopathic scoliosis, J Bone Joint Surg Am, 2015: 97(17):1411-7.

77. Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.  Identification of medically actionable secondary findings in the 1000 genomes, PLoS One, 2015: 10(9):e0135193.

78. Ackermann MA, Ward CW, Gurnett C, Kontragianni-Konstantopoulos A. Myosin binding protein-C slow phosphorylation is altered in Duchenne Dystrophy and arthrogryposis myopathy in fast-twitch skeletal muscles, Sci Rep, 2015: 19;5:13235.

79. Haller G, Alvarado D, McCall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis, Hum Mol Genet, 2016: 25(1): 202-9.

80. Haller G, Alvarado D, McCall K, Mitra RD, Dobbs MB, Gurnett CA. Massively parallel single-nucleotide mutagenesis using reversibly terminated inosines, Nat Methods, 2016: 13(11):923-924.

81. Alvarado DM, McCall K, Hecht JT, Dobbs MB, Gurnett CA. Deletions of 5' HOXC genes are associated with lower extremity malformations including congenital vertical talus,  J Med Genet, 2016: 53(4):250-5.

82. Dobbs MB, Frick SL, Mosca VS, Raney E, VanBosse JH, Lerman JA, Talwalkar VR, Steger-May K, Gurnett CA. Design and descriptive data of the prospective randomized controlled clubfoot foot abduction brace length of treatment study (FAB24), J Ped Orthop B, 2017: 26(2):101-107.

83. Haller G, Zabriskie H, Spehar S, Kuensting T, Bledsoe X, Syed A, Gurnett CA, Dobbs MB. Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis, J Ped Orthop B, 2017: 27(2):152-158.

84. Rudnick SB, Zabriskie H, Ho J, Gurnett CA, Dobbs MB, Scoliosis severity does not impact the risk of scoliosis in family members, J Pediatr Orthop B, 2017: 27(2):147-151.

85. Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver B, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT, Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability, J Med Genet, 2018: 55(8): 561-566.

86. Rogers A, Golumbek P, Cellini E, Doccini V, Guerrini R, Wallgren-Pettersson C, Thuresson AC, Gurnett CA. De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA3 variants, Am J Med Genet A, 2018: 176(8):1748-1752.

87. Haller G, McCall K, Jenkikasemwong S, Nikolov M, Whittle J, Upshaw Z, Baschal E, Shin J, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise CA, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA.  A missense variant in SLC39A8 is associated with severe idiopathic scoliosis, Nat Comm, 2018: 9(1):4171.

88. Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA. Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis loci, Hum Mol Genet, 2018: 27(22):3986-3998.

89. Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS. Mutations in kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development, PLoS Genet, 2018: 14(11):e1007817.

90. Sadler B, Gurnett CA, Dobbs MB. The genetics of isolated and syndromic clubfoot, J Child Orthop, 2019: 13(3):238-244. 

91. Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende JA, Giampietro P, Raggio C, Hadley-Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA.  Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis, J Med Genet, 2019: 56(7):427-433.

92. Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng X, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. MET mutation causes muscular dysplasia and arthrogryposis, EMBO Mol Med, 2019: 11(3):e9709.

93. Kvon EZ, Zhu Y, Kelman G, Novak CS, Plajzer-Frick I, Kato M, Garvin TH, Pham Q, Harrington AN, Hunter RD, Godoy J, Meky EM, Akiyama JA, Afzal V, Tran S, Escande F, Gilbert-Dussardier B, Jean-Marçais N, Hudaiberdiev S, Ovcharenko I, Dobbs MB, Gurnett CA, Manouvrier-Hanu S, Petit F, Visel A, Dickel DE, Pennacchio LA. Comprehensive in vivo interrogation reveals phenotypic impact of human enhancer variants, Cell,  2020: 180(6):1262-1271.

94. Haller G, Sadler B, Kuensting T, Lakshman N, Greenberg JK, Strahle JM, Park TS, Dobbs MB, Gurnett CA, Limbrick DD. Obex position is associated with syringomyelia and use of posterior fossa decompression among patients with Chiari I malformation. J Neurosurg Pediatr, 2020: Apr 10:1-8.

95. Surface LE, Burrow DT, Li J, Park J, Kumar S, Lyu C, Song N, Yu Z, Rajagopal A, Bae Y, Lee BH, Mumm S, Gu CC, Baker JC, Mohseni M, Sum M, Huskey M, Duan S, Bijanki VN, Civitelli R, Gardner MJ, McAndrew CM, Ricci WM, Gurnett CA, Diemer K, Wan F, Costantino CL, Shannon KM, Raje N, Dodson TB, Haber DA, Carette JE, Varadarajan M, Brummelkamp TR, Birsoy K, Sabatini DM, Haller G, Peterson TR. ATRAID regulates the action of nitrogen-containing bisphosphonates on bone. Sci Transl Med, 2020:12(544).

96. Sadler B, Kuensting T, Strahle J, Park TS, Smyth M, Limbrick DD, Dobbs MB, Haller G, Gurnett CA. Prevalence and impact of underlying diagnosis and comorbidities on Chiari I malformation. Pediatr Neurol. 2020: M106:32-37.

97. Sadler B, Haller G, Antunes L, Nikolov M, Amarillo I, Coe B, Dobbs MB, Gurnett CA. Rare and de novo duplications containing SHOX in clubfoot, J Med Genet, 2020, 57(12):851-57.

98. Vijayalingam S, Ezekiel UR, Xu F, Subramaniaan T, Geerling E, Hoelscher B, San K, Ganapathy A, Pemberton K, Tycksen E, Pinto AK, Brien JD, Beck DB, Chung WK, Gurnett CA, Chinnadurai G. Human iPSC-derived neuronal cells from CTBP1-mutated patients reveal altered expression of neurodevelopmental gene networks, Front Neurosci, 2020 Oct 27; 14:562292.

99. Whittle J, Antunes L, Harris M, Upshaw Z, Sepich DS, Johnson AN, Mokalled M, Solnica-Krezel L, Dobbs MB, Gurnett CA. MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin, EMBO Mol Med, 2020, 6; 12(11):e12356.

100. Terhune EA, Cuevas MT, Monley AM, Wethey CI, Chen X, Cattel MV, Bayrak MN, Bland MR, Sutphin B, Devon Trahan G, Taylor MRG, Niswander LA, Jones KL, Baschal EE, Antunes, L, Dobbs M, Gurnett C, Appel B, Gray R, Miller NH. Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish, Hum Mutat, 2020, 42(4):392-407.

101. Khanshour AM, Kidane Y, Kozlitina J, Cornelia R, Rafipay A, De Mello V, Weston M, Paria N, Khalid A, Hecht JT, Dobbs MB, Richards BS, Vargesson N, Hamra FK, Wilson M, Wise C, Gurnett CA, Rios JJ. Genetic association and characterization of FSTL5 in isolated clubfoot, Hum Mol Genet, 2021, 29(22):3717-3728.

102. Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Burnetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Rare and de novo coding variants in chromodomain genes in Chiari 1 malformation, Am J Hum Genet, 2021, 108(1):100-114.

103. Sherby MR, Walsh T, Lai AM, Neidich JA, Balls-Berry JE, Morris SM, Head R, Prener C, Newland JG, Gurnett, CA and the Compass-T Study Group. SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities, J Neurodev Disorders, 2021 Sep 1; 13(1):31.

104. Quiggle A, Charng WL, Antunes L, Nikolov M, Bledsoe X, Hecht JT, Dobbs MB, Gurnett CA. Whole exome sequencing in individuals with idiopathic clubfoot reveals a recurrent filamin B (FLNB) deletion, Clin Orthop Relat Res, 2022, 480(2):421-430.

105. Marrus N, Turner TN, Forsen E, Bolster D, Marvin A, Whitehouse A, Klinger L, Gurnett CA, Constantino JN, Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk, J Neurodev Disord, 2021, Sept 16; 13(1): 39.

106. Sadler B, Minard C, Haller G, Gurnett CA, O’Brien SH, Wheeler AP, Jain S, Sharma M, Zia A, Kulkarni R, Mullins ES, Ragni MV, Sidonio RF, Dietrich JE, Kouides P, Di Paola J, Srivaths LV. Whole exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations, Blood Adv, 2022, 6(2):420-428.

107. Miceli F, Guerrini R, Nappi M, Soldovieri MV, Cellini E, Gurnett CA, Parmeggiani L, Mei D, Taglialatela M. Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants, Epilepsia, 2021, Nov 14.

108. Sherby MR, Kalb LG, Coller RJ, DeMuri GP, Butteris S, Foxe JJ, Zand MS, Freedman EG, Dewhurst S, Newland JG, Gurnett CA. Supporting COVID-19 school safety for children with disabilities and medical complexity, Pediatrics, 2022, 480(2):421-430.

109. Rockwell NC, Yang W, Warrington NM, Staller MV, Griffith M, Griffith OL, Gurnett CA, Cohen BA, Baldridge D, Rubin JB. Sex- and mutation-specific p53 gain-of-function activity in gliomagenesis, Cancer Res Commun, 2021, 1(3): 148-163.

110. Vazquez M, Chovanec J, Kim J, DiMaggio T, Milner JD, Francomano CA, Gurnett CA, Ritelli M, Colombi M, Lyons JJ. Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenical hypermobility disorders, Hum Genet and Genomics Adv, 2022, 3(2):100094.

111. Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger A, Rowell W, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN.  Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing,  Am J Med Genet, 2022, 188(7):2071-2081.

112. Tayebi M, Charng WL, Dickson PI, Dobbs MB, Gurnett CA. Diagnostic yield of exome sequencing in congenital vertical talus. Eur J Med Genet, 2022, 65(6):104514.

113. McAdow J, Yang S, Ou T, Huang G, Dobbs MB, Gurnett CA, Greenberg MJ, Johnson AN. A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2 directed myogenesis, JCI Insight, 2022, May 17, e152466.

114. Wiley B, Parsons TM, Burkart S, Young AL, Erlandson KM, Tassiopoulos KK, Wu K, Gurnett C, Presti RM, Bolton KL, Challen GA. Effect of clonal hematopoiesis on cardiovascular disease in people living with HIV,  Exp Hematol, 2022, 114:18-21.

115. Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers, SR, James ER, Guo J, Jenkins TG, Riera-Esacmilla A, Barros A, Carvalho F, Fernandes S, Goncalves J, Gurnett CA, Jorgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pitatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O’Bryan MK, Schlegel PN, Tuttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF. Diverse monogenic subforms of human spermatogenic failure, Nat Comm, 2022, 13(1): 7953.

116. Chung C, Yang X, Bae T, Vong K, Mittal S, Donkels C, Phillips HW, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanlwy V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrinin R, Devinsky O, Silva WA, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S, Gleeson JG. Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development, Nat Genet, 2022, in press.

117. Mead AF, Wood NB, Nelson SR, Kennedy GG, Ploysangngam A, Ebert AM, Johnson AN, Gurnett CA, Previs MJ, Warshaw DM. Myosin binding protein h dominates the “c-zone” in ultrafast swimming muscles of developing zebrafish, Biophys J, 2023, in press.

118. Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome, Ann Clin Transl Neurol, 2023, 10(5):786-801.

119. Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna N. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis, Hum Mol Genet, 2023, in press.

120. Gemmell M, Sherby MR, Walsh TJ, Kalb LG, Johnson SB, Coller RJ, DeMuri GP, Nuthals E, McBride J, Newland JG, Gurnett CA. Recommendations for SARS-CoV-2 Testing in Children with Disabilities and Medical Complexity, Pediatrics, 2023, 152(Suppl 1): e2022060352.

121. Goldman JL, Kalu IC, Schuster JE, Erickson T, Mast DK, Zimmerman K, Benjamin DK, Kalb LG, Gurnett C, Newland JG, Sherby M, Godambe M, Shinde N, Watterson T, Walsh T, Foxe J, Zand M, Dewhurst S, Coller R, DeMuri GP, Archuleta S, Ko LK, Inkelas M, Manuel V, Lee R, Oh H, Murugan V, Kramer J, Okihiro M, Gwynn L, Pulgaron E, McCulloh R, Broadhurst J, McDaniels-Davidson C, Kiene S, Oren E, Wu Y, Wetter DW, Stump T, Brookhart MA, Fist A, Haroz E. Building School-Academic Partnerships to Implement COVID-19 Testing in Underserved Populations, Pediatrics, 2023, 152(Suppl 1): e2022060352.

122. Uthappa DM, Mann TK, Goldman JL, Schuster JE, Newland JG, Anderson WB, Dozier A, Inkelas M, Foxe JJ, Gwynn L, Gurnett CA, McDaniels-Davidson C, Walsh T, Watterson T, Holden-Wiltse J, Potts JM, D’Agostino EM, Zandi K, Corbett A, Spallina S, DeMuri GP, Wu YP, Pulgaron ER, Kiene SM, Oren E, Allison-Burbank JD, Okihiro M, Lee RE, Johnson SB, Stump TK, Coller RJ, Mast DK, Haroz EE, Kemp S, Benjamin DK, Zimmerman KO. Common Data Element Collection in Underserved School Communities: Challenges and Recommendations, Pediatrics, 2023, 152(Suppl 1):e2022060352.

123. Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Yin Cheung JP, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis, Elife, Jan 26;12:RP89762.

124. Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis, Hum Mol Genet, 2023, 32(19):2913-2928.

125. Northrup RA, Jones E, Singh V, Holingue C, Meck M, Gurnett CA, van Stone M, Kalb LG. Caregiver perspectives on the continued impact of the COVID-19 pandemic on children with intellectual/developmental disabilities, Front Pediatr, 2023, 11:1196275.

126. Cole JJ, Sellitto AD, Baratta LR, Huecker JB, Balls-Berry JE, Gurnett CA. Social determinants of genetics referral and completion rates among child neurology patients, medRxiv, 2023, Sept 13.

127. Gemmel M, Walsh T, Sherby M, Imbeah A, Bono K, Baldenweck M, Gurnett C, Newland JG. Clusters of SARS-CoV-2 infection across six schools for students with intellectual and developmental disabilities, Infect Dis Ther, 2023, 12(9):2289-2294.

128. Oppermann H, Marcos-Graneda A, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Keuchler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tumer Z, Platzer K, CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology, Eur J Hum Genet, 2023, 31(11):1251-1260.

129. Chopra M, Savatt JM, Bingaman TI, Good ME, Morgan A, Cooney C, Rossel AM, VanHoute B, Cordova I, Mahida S, Lanzotti V, Baldridge, Gurnett CA, Piven J, Hazlett H, Pomeroy SL, Sahin M, Payne PRO, Riggs ER, Constantino, JN; Brain Gene Registry Consortium. Clinical variants paired with phenotype: A rich resources for brain gene curation, Genet Med, 2023, Dec 4:101035.

130. DeKorver NW, Zhao W, Butler MR, Di Luca DG, Gurnett C, Nascimento F, An adult with KCNA2-related epilepsy and ataxia, Epileptic Disord, 2024, Feb 17

b. Invited publications (e.g., reviews, book chapters, etc)

1. De Waard M, Gurnett CA, and Campbell, KP. Structural and functional diversity of voltage-dependent Ca²⁺ channels, Ion Channels, 1996; 4:41-87.

2. Gurnett CA and Gutmann DH. Neuro-oncology: The Neurofibromatoses in The Molecular and Genetic Basis of Neurological and Psychiatric Disease, Third Edition, (Roger Rosenberg, editor), Mass: Butterworth Heinemann, 2003.

3. Gurnett CA, Hedera P. New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation, Arch Neurol 2007; 64(3): 324-8.

4. Dobbs MB, Gurnett CA. Update on clubfoot: etiology and treatment, Clin Orthop Relat Res 2009, 467(5): 1146-53.

5. Gurnett CA, Dobbs MB. Genetics of clubfoot, J Ped Orthop 2012, 21(1):7-9.

6. Gurnett CA, Dobbs MB. PITX1 associated congenital lower limb malformations, Epstein’s Inb`orn Errors of Development: the molecular basis of clinical disorders of morphogenesis, (Ian Krantz, Han Brunner, Julie Korenberg, editors), Oxford University Press, 2016.

7. Cheng JC, Castelein RM, Chu WC, Danielsson AJ, Dobbs MB, Grivas TB, Gurnett CA, Luk KD, Moreau A, Newton PO, Stokes IA, Weinstein SL, Burwell RG. Adolescent idiopathic scoliosis, 2015, Nat Rev Dis Primers, Sep 24;1:15030.

8. Dobbs MB, Gurnett CA. The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research, Clin Orthop Relat Res, 2017, 475(6):1716-1725.

9. Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA. Summary of the first inaugural joint meeting of the International Consortium for Scoliosis Genetics and the International Consortium for Vertebral Anomalies and Scoliosis, March 16-18, 2017, Dallas Texas, Am J Med Genet, 2017.

10. Sadler B, Gurnett CA, Dobbs MB. The genetics of isolated and syndromic clubfoot, J Child Orthop, 2019, 13(3):238-244.

11. Wise CA, Sepich D, Ushiki A, Khanshour AM, Kidane YH, Makki N, Gurnett CA, Gray RS, Rios JJ, Ahituv N, Solnica-Krezel L. The cartilage matrisome in adolescent idiopathic scoliosis. Bone Res. 2020 Mar 9;8:13.

12. Whittle J, Johnson A, Dobbs MB, Gurnett CA. Models of distal arthrogryposis and lethal congenital contracture syndrome. Genes 2021, 12(6):943.

13. Tang NLS, Dobbs MB, Gurnett CA, Qui Y, Lam TP, Cheng JCY, Hadley-Miller N. A decade in review after idiopathic scoliosis was first called a complex trait-a tribute to the late Dr. Yves Cotrel for his support in studies of etiology of scoliosis. Genes 2021, 12(7):1033.

b. Social media, internet, webinar

1. Vimeo, “Genetics of Chiari Malformation and Related Disorders”, Bobby Jones

          CSF Meeting, August 27, 2019

       2. NIH Facebook Live, “Return to School Testing Initiative”, Sept 22, 2021

       3. Accessible podcast, “Patient Driven Innovation with Dr. Christina Gurnett,

Neurologist and Director of Washington University IDD Research Center, May 2023

                   4. YouTube, ICTS Symposium Panel 1, May 25, 2023

                   5. YouTube, The Wash U Precision Health Experience, July 8, 2021