DorothyKGrangeMD

Medical Genetics • Columbia, MO

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics

Professor, Pediatrics, Washington University School of Medicine

Join to view full profile

Dr. Grange is on Doximity

As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.

Connect with other colleagues in the same hospital or clinic
Search all U.S. specialist profiles and refer a patient
Read the latest clinical news and earn CME/CEU credits

See Dr. Grange's full profile

Already have an account?

Office
404 N Keene St
Ste 101
Columbia, MO 65201
Phone+1 573-882-6921

Fax+1 573-884-9833
Is this information wrong?

Education & Training

University of Wisconsin Hospitals and ClinicsResidency, Pathology-Anatomic and Clinical, 1985 - 1986
University of Wisconsin Hospitals and ClinicsResidency, Pediatrics, 1982 - 1985
University of Florida College of MedicineInternship, Transitional Year, 1981 - 1982
University of Florida College of MedicineClass of 1981

Certifications & Licensure

IL State Medical License 1991 - 2026
MO State Medical License 1989 - 2025
MD State Medical License 1987 - 1990
WI State Medical License 1982 - 1987
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics

Clinical Trials

Sapropterin in Individuals With Phenylketonuria Start of enrollment: 2008 Jul 01
Completed
Behavioral Effects of Kuvan in Children With Mild Phenylketonuria Start of enrollment: 2009 Jan 01
Terminated
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Start of enrollment: 2010 Jul 01
Completed
Sweat Duct Imaging in Mother/Newborn Dyads Start of enrollment: 2011 Apr 01
Completed
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Start of enrollment: 2011 Jun 01
Completed
Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Start of enrollment: 2013 Apr 01
Completed
Phase 2
An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Start of enrollment: 2013 May 01
Completed
Phase 3
Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Start of enrollment: 2014 Mar 01
Active, not recruiting
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Start of enrollment: 2014 Apr 01
Completed
A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED Start of enrollment: 2019 Jun 28
Withdrawn
Join now to see all

Publications & Presentations

PubMed

4 citations
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp, Dorothy K Grange, Geoffroy Delplancq, Jennifer Heeley, Melissa Zuteck, Michelle M Mor...> ;American Journal of Medical Genetics. Part A. 2023 May 1
1 citations
Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.
Parith Wongkittichote, Chanseyha Chhay, Gazelle Zerafati-Jahromi, Judith L Weisenberg, Ali Mian, Laran T Jensen, Dorothy K Grange> ;Molecular Genetics and Metabolism. 2023 Mar 1
1 citations
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectoder...
Holm Schneider, Smail Hadj-Rabia, Florian Faschingbauer, Christine Bodemer, Dorothy K Grange, Mary E Norton, Riccardo Cavalli, Gianluca Tadini, Holger Stepan, Angus Cl...> ;Genes. 2023 Jan 6
12 citations
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Wen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, Emanuele Bellacchio, Courtney E. French, Benjamin Munro, Toni S. Pearson, Julie Vogt, Daria Diodato, Tue Diemer,...> ;Human Molecular Genetics. 2021 Sep 11
2 citations
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Helen I. Roessler, Lieke M van der Heuvel, Kathleen Shields, Kristin P. Guilliams, Nine V A M Knoers, Gijs van Haaften, Dorothy K. Grange, Mieke M. van Haelst> ;American Journal of Medical Genetics. Part A. 2021 May 30
7 citations
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill A. Rosenfeld, Erin Torti, Chad R. Haldeman-Englert, Evgenia...> ;Genetics in Medicine. 2021 Apr 8
6 citations
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B
Edward Jin Lee, Raja Dandamudi, Jorge L. Granadillo, Dorothy K. Grange, Aadil Kakajiwala> ;CEN Case Reports. 2021 Jan 27
4 citations
Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia.
Christopher Markham, Caroline V. Williams, Cory Miller, Dorothy K. Grange, T. Keefe Davis, Kenneth E. Remy> ;Frontiers in Pediatrics. 2021 Jan 1
14 citations
Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome.
Nathaniel W. York, Helen Parker, Zili Xie, David Tyus, Maham Akbar Waheed, Zihan Yan, Dorothy K. Grange, Maria S. Remedi, Sarah K. England, Hongzhen Hu, Colin G. Nichols> ;JCI Insight. 2020 Dec 3
12 citations
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Barbara K Burton, Joel Charrow, George E Hoganson, Julie Fleischer, Dorothy K Grange, Stephen R Braddock, Lauren Hitchins, Rachel Hickey, Katherine M Christensen, Dani...> ;International Journal of Neonatal Screening. 2020 Mar 1
9 citations
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report
Parith Wongkittichote, James R. Watson, Jennifer M. Leonard, Elizabeth R. Toolan, Patricia I. Dickson, Dorothy K. Grange> ;JIMD Reports. 2020 Nov 1
48 citations
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W...> ;American Journal of Human Genetics. 2020 Sep 3
2 citations
Siblings with a novel MED12 variant and Odho syndrome with immune defects
Zachary Rubin, Dorothy K. Grange, Megan A. Cooper> ;Clinical Genetics. 2020 Sep 1
16 citations
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.
Barbara K. Burton, Nicola Longo, Jerry Vockley, Dorothy K. Grange, Cary O. Harding, Celeste Decker, Mingjin Li, Kelly Lau, Orli Rosen, Kevin Larimore, Janet A. Thomas,...> ;Molecular Genetics and Metabolism. 2020 Jun 16
4 citations
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants
Sakil Kulkarni, Brooj Abro, Maria Laura Duque Lasio, Janis Stoll, Dorothy K. Grange, Mai He> ;Pediatric and Developmental Pathology. 2020 May 1
16 citations
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
Iris Körber, Ophir D. Klein, Patrick Morhart, Florian Faschingbauer, Dorothy K. Grange, Angus John Clarke, Christine Bodemer, Silvia Maitz, Kenneth M. Huttner, Neil Ki...> ;British Journal of Clinical Pharmacology. 2020 Apr 24
6 citations
Three-dimensional facial morphology in Cantú syndrome
Helen I. Roessler, Kathleen Shields, Dorothy K. Grange, Nine V A M Knoers, Gijs van Haaften, Peter Hammond, Mieke M. van Haelst> ;American Journal of Medical Genetics. Part A. 2020 Feb 26
20 citations
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Dustin Baldridge, Rebecca C. Spillmann, Daniel J. Wegner, Jennifer A. Wambach, Frances V. White, Kathleen Sisco, Tomi L. Toler, Patricia I. Dickson, F. Sessions Cole, ...> ;American Journal of Medical Genetics. Part A. 2020 Feb 21
24 citations
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nan...> ;American Journal of Human Genetics. 2020 Jan 2
38 citations
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S. Remedi, Nine V A M Knoers, Jin-Moo Lee, Edwin P. Kirk, Ingrid Scurr, S...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2019 Dec 1
14 citations
White and gray matter brain development in children and young adults with phenylketonuria
Zoë Hawks, Anna M Hood, Dov B. Lerman-Sinkoff, Joshua S. Shimony, Jerrel Rutlin, Daniel Lagoni, Dorothy K. Grange, Desirée A. White> ;Neuroimage. Clinical. 2019 Jul 2
13 citations
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience
Barbara K. Burton, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Rachel Hickey, Lauren Hitchins, Daniel Groepper, Katherine M. Christens...> ;The Journal of Pediatrics. 2019 Nov 1
21 citations
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Alan Ma, Sunita Gurnasinghani, Edwin P. Kirk, Conor McClenaghan, Gautam K. Singh, Dorothy K. Grange, Chetan Pandit, Yung Zhu, Tony Roscioli, George Elakis, Michael Buc...> ;American Journal of Medical Genetics. Part A. 2019 Aug 1
9 citations
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Katja Kloth, Tatjana Bierhals, Jessika Johannsen, Frederike L. Harms, Jane Juusola, Mark C. Johnson, Dorothy K. Grange, Kerstin Kutsche> ;Human Genetics. 2019 Apr 8
3 citations
Dichotomous roles of TBX3 in the establishment of atrioventricular conduction pathways in the human heart.
Hoang H. Nguyen, Dorothy K. Grange, Mark C. Johnson, George F. Van Hare, Patrick Y. Jay> ;Heartrhythm Case Reports. 2019 Feb 1
Join now to see all

Journal Articles

Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies
Scott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature

Press Mentions

Mystery Cases: What Happens When Modern Medicine Lacks a Diagnosis or Cure?June 18th, 2021

Hospital Affiliations

St. Louis Children's HospitalSaint Louis, Missouri
Barnes-Jewish HospitalSaint Louis, Missouri
University HospitalColumbia, Missouri