Department of Pediatrics

Education

• BA, Cum Laude, Mount Holyoke College, 1980
• MD, University of Florida College of Medicine, 1982

Training

• Pathology Intern, University of Florida, 1981 - 1982
• Pediatric Intern and Resident, University of Wisconsin, 1982 - 1985
• Pathology Resident, University of Wisconsin, 1985 - 1986
• Medical Genetics Fellowship Program, National Institutes of Health, 1986 - 1989

Licensure and Board Certification

• 1981 - 1986WI
• 1982 - PresNational Board of Medical Examiners
• 1986 - 1989MD
• 1987 - PresAmerican Academy of Pediatrics
• 1989 - 2023MO
• 1990 - PresClinical Genetics, American Board of Medical Genetics
• 2002 - 2023IL
• 2009 - PresMedical Biochemical Genetics, American Board of Medical Genetics

Honors and Awards

• Dean Mitchell Baker Medical Student Award for Pediatric Cardiology, 1981
• Outstanding Teacher Award - Subspecialty, Department of Pediatrics, Washington University School of Medicine, 2008 - 2009
• Distinguished Clinician Award, Washington University School of Medicine, 2015
• Shining Star Award from the Down Syndrome Association of Greater St Louis, 2016

Recent Publications view all (141)

Publication Co-Authors

James Kemp, M.D.

Gregory A. Storch, M.D.

Dustin Baldridge

Marwan Shinawi, M.D.

Duha Al-Zubeidi

Laura Schuettpelz, M.D, Ph.D.

S. Paul Hmiel, M.D., Ph.D.

Barbara B. Warner, M.D., MSc

Jennifer A Wambach, M.D.

Linda Manwaring

Sheel Pathak

Andrea Coverstone, M.D.

Gary S Gottesman

Charles Canter, M.D.

Jorge L Granadillo, MD, MSc.

David B. Wilson, M.D., Ph.D.

George F. Van Hare, M.D.

Beth A. Kozel, M.D., Ph.D.

Scott Saunders, M.D., Ph.D.

Patricia Dickson

Jennifer Heeley

Kristin Guilliams, MD MSCI

Raja Dandamudi

Lisa Connor

Tomi L. Toler, MS, CGC

Francis Sessions Cole, III, M.D.

Tasnim A. Najaf, M.D.

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Dorothy Katherine Grange, M.D.

1. Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-Reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P M de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K Grange, Marjolaine Willems, Michael C Kruer, Jaewon Ko, Amélie Piton, Ji Won Um. SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice Nat Commun. 2022;13(1):4112. doi:10.1038/s41467-022-31566-z  PMCID:PMC9287327  PMID:35840571 
2. Markham C, Williams C, Miller C, Grange DK, Davis TK, Remy KE.. Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia. Front Pediatr. 2021. doi:10.3389/fped.2021.732354  PMID:34805036 
3. Zheng W-Q, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou X-L, Taylor RW, Ostergaard E. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease Hum Mol Genet. 2021. doi:10.1093/hmg/ddab257  PMID:34508595 
4. Roessler HI, van der Heuvel LM, Shields K, Guilliams KP, Knoers NVAM, van Haaften G, Grange DK, van Haelst MM. Behavioral and cognitive functioning in individuals with Cantú syndrome Am J Med Genet A. 2021. doi:10.1002/ajmg.a.62348  PMID:34056838  
5. Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP.. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Genet Med. 2021. doi:10.1038/s41436-021-01152-7  PMID:33833410  
6. Lee EJ, Dandamudi R, Granadillo JL, Grange DK, Kakajiwala A.. Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. CEN Case Rep.. 2021. doi:10.1007/s13730-021-00572-3  PMID:33502714  
7. York NW, Parker H, Xie Z, Tyus D, Waheed MA, Yan Z, Grange DK, Remedi MS, England SK, Hu H, Nichols CG.. Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome JCI Insight. 2020;5(23):e141443. doi:10.1172/jci.insight.141443  PMID:33170808  
8. Grange DK, Nichols CG, Singh GK. Cantú Syndrome. 2014 Oct 2 [Updated 2020 Oct 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK246980/. Cantú Syndrome GeneReviews. 2020. PMID:25275207 
9. Parith Wongkittichote, James R. Watson, Jennifer M. Leonard, Elizabeth R. Toolan, Patricia I. Dickson, Dorothy K. Grange. Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report JIMD Reports. 2020. doi:10.1002/jmd2.12165  
10. Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Am J Med Genet A. 2020;107(3):499-513. doi:10.1016/j.ajhg.2020.06.018  PMID:32721402 
11. Rubin Z, Grange DK, Cooper MA. Siblings with a novel MED12 variant and Odho syndrome with immune defects Clin Genet. 2020;98(3):308-310. doi:10.1111/cge.13806  PMID:32721402 
12. Burton BK, Longo N, Vockley J, Grange DK, Harding CO, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J; PAL-002 and PAL-004 Investigators. Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up Mol Genet Metab. 2020;130(4):239-246. doi:10.1016/j.ymgme.2020.06.006  PMID:32593547 
13. Körber I, Klein OD, Morhart P, Faschingbauer F, Grange DK, Clarke A, Bodemer C, Maitz S, Huttner K, Kirby N, Durand C, Schneider H.. Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects Br J Clin Pharmacol. 2020;86(10):2063-2069. doi:10.1111/bcp.14301  PMID:32250462 
14. Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM. Three-dimensional facial morphology in Cantu syndrome Am J Med Genet A. 2020;182(5):1041-1052. PMID:32100467 
15. Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome Am J Med Genet A. 2020;182(5):1053-1065. doi:10.1002/ajmg.a.61518  PMID:32083401 
16. Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C.. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature Eur J Hum Genet. 2020;28(6):770-782. doi:10.1038/s41431-020-0571-6  PMID:32005960 
17. Burton BK, Charrow J, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hitchins L, Hickey R, Christensen KM, Groepper D, Shryock H, Smith P, Shao R, Basheeruddin K.. Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants Int J Neonatal Screen. 2020;6(1):4. doi:10.3390/ijns6010004  PMID:33073003 
18. Joel J Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C Pyle, Dorothy K Grange, Seth I Berger, Katelyn K Payne, Diane Masser-Frye, Tommy Hu, Michelle R Christie, Nancy J Clegg, Joshua L Everson, Ariel F Martinez, Laurence E Walsh, Emma Bedoukian, Marilyn C Jones, Catharine Jean Harris, Korbinian M Riedhammer, Daniela Choukair, Patricia Y Fechner, Meilan M Rutter, Sophia B Hufnagel, Maian Roifman, Gad B Kletter, Emmanuele Delot, Eric Vilain, Robert J Lipinski, Chad M Vezina, Maximilian Muenke, David Chitayat. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations Am J Med Genet A. 2019;106(1):121-128. doi:10.1016/j.ajhg.2019.12.004  PMID:31883643 
19. 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, Sarah F Smithson, Gautam K Singh, Mieke M van Haelst, Colin G Nichols, Gijs van Haaften. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry Am J Med Genet C Semin Med Genet. 2019;181(4):658-681. doi:10.1002/ajmg.c.31753  PMID:31828977 
20. Sakil Kulkarni, Brooj Abro, Maria Laura Duque Lasio, Janis Stoll, Dorothy K Grange, Mai He. Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants Pediatr Dev Path. 2019;23(3):235-239. doi:10.1177/1093526619881541  PMID:316355528 
21. Burton BK, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hickey R, Hitchins L, Groepper D, Christensen KM, Kirby A, Moody C, Shryock H, Ashbaugh L, Shao R, Basheeruddin K.. Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience. J Pediatr. 2019;S0022-3476(19):30961-30968. doi:10.1016/j.jpeds.2019.07.053  PMID:31477379 
22. Hawks Z, Hood AM, Lerman-Sinkoff DB, Shimony JS, Rutlin J, Lagoni D, Grange DK, White DA.. White and gray matter brain development in children and young adults with phenylketonuria. Neuroimage Clin. 2019;23:101916. doi:10.1016/j.nicl.2019.101916  
23. Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.. Mutation update for the SATB2 gene Hum Mutat. 2019;40(8):1013-1029. doi:10.1002/humu.23771  PMID:31021519 
24. Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG.. Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. Am J Med Genet A. 2019;179(8):1585-1590. doi:10.1002/ajmg.a.61200  PMID:31175705 
25. Kloth K, Bierhals T, Johannsen J, Harms FL, Juusola J, Johnson MC, Grange DK, Kutsche K.. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype. Hum Genet. 2019. doi:10.1007/s00439-019-02011-x  PMID:30963242  
26. Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK.. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet.. 2019. doi:10.1038/s41431-019-0366-9  PMID:30778173 
27. Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019. doi:10.1038/s41436-019-0454-9  PMID:30739909  
28. Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. . 2019;104(2):213-228. doi:10.1016/j.ajhg.2018.12.010  PMID:30639323 
29. Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A.. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet.. 2018;103(6):968-975. doi:10.1016/j.ajhg.2018.10.010  PMID:30414627 
30. Nguyen HH, Grange DK, Johnson MC, Van Hare GF, Jay PY.. Dichotomous roles of TBX3 in the establishment of atrioventricular conduction pathways in the human heart. Heart Rhythm Case Rep.. 2018;5(2):109-111. doi:10.1016/j.hrcr.2018.11.005  PMID:30820409  
31. Mohammed Almannai, Julia Wang, Hongzheng Dai, Ayman El-Hattab, Eissa Faqeih, Mohammed A. Saleh, Ali Al Asmari, Ali H Alwadei, Yaser I. Aljadhai, Amal Alhashem, Brahim M. Tabarki, Matthew A. Lines, Dorothy K. Grange, Ruba Benini, Abdulaziz AlSaman, Adel Mahmoud, Panagiotis Katsonis, Oliver Lichtarge, Lee-Jun Wong. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab. 2018. doi:org/10.1016/j.ymgme.2018.07.014  
32. Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature Eur J Hum Genet. 2018. doi:10.1038/s41431-018-0187-2  PMID:29904177 
33. Harding CO, Amato RS, Stuy M, Longo N, Burton BK, Posner J, Weng HH, Merilainen M, Gu Z, Jiang J, Vockley J; PRISM-2 Investigators. Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial Mol Genet Metab. 2018;124(1):20-26. doi:10.1016/j.ymgme.2018.03.003  PMID:29628378 
34. Hawks ZW, Strube MJ, Johnson NX, Grange DK, White DA. Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria Dev Neuropsychol. 2018;43(3):207-218. doi:10.1080/87565641.2018.1438439  PMID:29432026