Pediatric Research

Dorothy Katherine Grange, M.D. grangedk@wustl.edu

Professor of Pediatrics, Division of Genetics and Genomic Medicine

Genetics and Genomic Medicine

phone: (314) 454-6093

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 - 2022MO
1990 - PresClinical Genetics, American Board of Medical Genetics
2002 - 2022IL
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

Selected Publications view all (138)

Publication Co-Authors

James Kemp, M.D.

Gregory A. Storch, M.D.

Marcia C. Willing, M.D., Ph. 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.

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

Kristin Guilliams, MD MSCI

Raja Dandamudi

Lisa Connor

Tomi L. Toler, MS, CGC

Francis Sessions Cole, III, M.D.

1.	Twigg SR, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AO. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016;98(6):1256-65. doi:10.1016/j.ajhg.2016.04.007 PMID:27236920
2.	Levin MD, Singh GK, Zhang HX, Uchida K, Kozel BA, Stein PK, Kovacs A, Westenbroek RE, Catterall WA, Grange DK, Nichols CG. KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome. Proc Natl Acad Sci U S A. 2016. doi:10.1073/pnas.1606465113 PMID:27247394
3.	Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Clinical and radiographic delineation of bent bone dysplasia-FGFR2 type or bent bone dysplasia with distinctive clavicles and angel-shaped phalanges. Am J Med Genet A. 2016. doi:10.1002/ajmg.a.37772 PMID:27240702
4.	You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MB, Valle D, Armanios M, Hoover-Fong J. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016;98(5):909-18. doi:10.1016/j.ajhg.2016.03.014 PMID:27132593
5.	Bree AF, Grange DK, Hicks MJ, Goltz RW. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet. 2016;172(1):44-51. doi:10.1002/ajmg.c.31472 PMID:26858134
6.	Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Genet A. 2016;170(3):583-93. doi:10.1002/ajmg.a.37445 PMID:26601658
7.	Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA, Schaefer GB, Olney AH. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. Am J Med Genet A. 2015;167(12):2893-901. doi:10.1002/ajmg.a.37273 PMID:26420300
8.	Levin MD, Zhang H, Uchida K, Grange DK, Singh GK, Nichols CG. Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. Heart Rhythm. 2015. doi:10.1016/j.hrthm.2015.06.042 PMID:26142302
9.	Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in infancy and early childhood: a systematic literature review Genet Med. 2015;17(5):323-30. PMID:25232851
10.	Poretti A, Denecke J, Miller DC, Schiffmann H, Buhk JH, Grange DK, Doherty D, Boltshauser E. Brainstem disconnection: two additional patients and expansion of the phenotype. Neuropediatrics. 2015;46(2):139-44. doi:10.1055/s-0034-1544127 PMID:25671339

1.	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
2.	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
3.	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
4.	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
5.	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
6.	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
7.	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
8.	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
9.	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
10.	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
11.	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
12.	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
13.	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
14.	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
15.	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
16.	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
17.	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
18.	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
19.	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
20.	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
21.	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
22.	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
23.	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
24.	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
25.	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
26.	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
27.	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
28.	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
29.	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
30.	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
31.	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
32.	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
33.	McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG. Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms J Biol Chem. 2018;293(6):2041-2052. doi:10.1074/jbc.RA117.000351 PMID:29275331
34.	Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Am J Hum Genet. 2017;101(5):768-788. doi:10.1016/j.ajhg.2017.10.003 PMID:29100089
35.	Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S, Bodemer C, Grange DK.. Automatic recognition of the XLHED phenotype from facial images. Am J Med Genet A. 2017;173(9):2408-2414. doi:10.1002/ajmg.a.38343 PMID:28691769
36.	Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017;9(1):73. doi: doi: 10.1186/s13073-017-0463-8 PMID:28807008
37.	Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R.. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum Mutat. 2017;38(11):1477-1484. doi:10.1002/humu.23297 PMID:28726266
38.	Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G.. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr. 2017;pii: S0022-3476(17):30898-3. doi:10.1016/j.jpeds.2017.06.048 PMID:28728811
39.	Hawks Z, Shimony J, Rutlin J, Grange DK, Christ SE, White DA.. Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria. Mol Genet Metab Rep. 2017;12:8-13. doi:10.1016/j.ymgmr.2017.01.013 PMID:28271047
40.	Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis Sci Rep. 2017;7:41803. doi:10.1038/srep41803. PMID:28205584
41.	Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, Powis Z, Helbig K, Waller K, Grange DK, Tang S, Farwell Hagman KD.. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017;38(5):600-608. doi:10.1002/humu.23183 PMID:28106320
42.	Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK.. Clinical utility gene card for: Cantú syndrome. Eur J Hum Genet. 2017;25(4). doi:10.1038/ejhg.2016.185 PMID:28051078
43.	Hood A, Rutlin J, Shimony JS, Grange DK, White DA. Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. JIMD Rep. 2017;33:41-47. PMCID:PMC5413446 PMID:27450369
44.	Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BB, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM.. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet. 2016;100(1):21-30. doi:10.1016/j.ajhg.2016.11.008 PMID:27939641
45.	Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S, DDD Study, Cobben JM, Duijkers FA, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2016. PMID:27550844
46.	Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations Am J Med Genet. 2016. doi:10.1002/ajmg.a.37849

Pediatric Research

Dorothy Katherine Grange, M.D. grangedk@wustl.edu

Education

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Selected Publications view all (138)

All Publications view selected (10)

Publication Co-Authors