Dorothy Katherine Grange, M.D.  grange_d@kids.wustl.edu

Professor of Pediatrics, Division of Genetics and Genomic Medicine
Genetics and Genomic MedicinePatient Oriented Research Unit

phone: (314) 454-6093

Education

  • B.A., Cum Laude, Mount Holyoke College1980
  • M.D., University of Florida College of Medicine1982

Training

  • Intern, University of Florida1981 - 1982
  • Intern and Resident, University of Wisconsin1982 - 1985
  • Resident, University of Wisconsin1985 - 1986
  • Fellowship Program, National Institutes of Health1986 - 1989

Licensure and Board Certification

  • WI, 1981
  • National Board of Medical Examiners1982
  • MD, 1986
  • American Academy of Pediatrics1987
  • MO, 1989
  • Clinical Genetics, American Board of Medical Genetics1990
  • IL, 2002
  • Medical Biochemical Genetics, American Board of Medical Genetics2009

Honors

  • Dean Mitchell Baker Medical Student Award for Pediatric Cardiology1981
  • Outstanding Teacher Award - Subspecialty, Department of Pediatrics, Washington University School of Medicine2008 - 2009
  • Distinguished Clinician Award, Washington University School of Medicine2015

Recent Publications view all (96)


  1. 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  
  2. 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. 2016. doi:10.1007/8904_2016_579  PMID:27450369  
  3. 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  PMID:27427475  
  4. Leon Guerrero CR, Pathak S, Grange DK, Singh GK, Nichols CG, Lee JM, Vo KD. Neurologic and neuroimaging manifestations of Cantú syndrome: A case series Neurology. 2016. doi:10.1212/WNL.0000000000002861  PMID:27316244   
  5. Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum Clin Genet. 2016. doi:10.1111/cge.12819  PMID:27307077  
  6. 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  
  7. 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  
  8. 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  
  9. 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  
  10. Wesonga E, Shimony JS, Rutlin J, Grange DK, White DA. Relationship between age and white matter integrity in children with phenylketonuria Mol Genet Metab Rep. 2016;7:45-9. doi:10.1016/j.ymgmr.2016.03.003  PMID:27114916  
  11. 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  
  12. 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  
  13. 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  
  14. 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  
  15. 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   
  16. 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  
  17. Hood A, Antenor-Dorsey JA, Rutlin J, Hershey T, Shimony JS, McKinstry RC, Grange DK, Christ SE, Steiner R, White DA. Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria. Mol Genet Metab. 2015;114(1):19-24. doi:10.1016/j.ymgme.2014.11.007  PMCID:PMC4277899  PMID:25481106  
  18. Coverstone AM, Bird M, Sicard M, Tao Y, Grange DK, Cleveland C, Molter D, Kemp JS. Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21. J Clin Sleep Med. 2014;10(12):1309-15. doi:10.5664/jcsm.4286  PMCID:PMC4237524  PMID:25325597  
  19. Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M, Wang Z, Boekelheide A, Langham M, Mushegyan V, Oberoi S, Brao R, Wen T, Johnson R, Huttner K, Grange DK, Spritz RA, Hallgrímsson B, Jheon AH, Klein OD. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2014;2(5):422-9. doi:10.1002/mgg3.84  PMCID:PMC4190877  PMID:25333067  
  20. Al-Zubeidi D, Thangarajh M, Pathak S, Cai C, Schlaggar BL, Storch GA, Grange DK, Watson ME Jr. Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders. Pediatr Neurol. 2014;51(3):448-52. doi:10.1016/j.pediatrneurol.2014.04.006  PMID:25160553  
  21. Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, 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. doi:10.1093/hmg/ddu224  PMID:24833718  
  22. Al-Kateb H, Khanna G, Filges I, Hauser N, Grange DK, Shen J, Smyser CD, Kulkarni S, Shinawi M. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A. 2014;164(5):1118-26. doi:10.1002/ajmg.a.36401  PMID:24458548  
  23. Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. J Med Genet. 2014. doi:10.1136/jmedgenet-2013-102249  PMID:24744436  
  24. Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2014. doi:10.1111/cge.12407  PMID:24738973  
  25. Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S. Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet. 2014. doi:10.1016/S0140-6736(13)61841-3  PMID:24743000  
  26. Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG. Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat. 2014. doi:10.1002/humu.22555  PMID:24700710  
  27. Hood A, Grange DK, Christ SE, Steiner R, White DA. Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Mol Genet Metab. 2014;111(4):445-51. doi:10.1016/j.ymgme.2014.01.012  PMID:24568837  
  28. Grange DK, Hillman RE, Burton BK, Yano S, Vockley J, Fong CT, Hunt J, Mahoney JJ, Cohen-Pfeffer JL, Phenylketonuria Demographics Outcomes and Safety (PKUDOS) registry, Maternal Phenylketonuria Observational Program (PKU MOMS) sub-registry. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Mol Genet Metab. 2014. doi:10.1016/j.ymgme.2014.02.016  PMID:24667082  
  29. Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014. doi:10.1007/s00439-014-1436-2  PMID:24615390  
  30. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014. doi:10.1016/j.ymgme.2014.02.013  PMID:24667081  
  31. Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014;2(2):115-23. doi:10.1002/mgg3.48  PMCID:PMC3960053  PMID:24689074  
  32. Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A. Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013;161A(12):2953-63. doi:10.1002/ajmg.a.35886  PMID:24123848  
  33. White DA, Antenor-Dorsey JA, Grange DK, Hershey T, Rutlin J, Shimony JS, McKinstry RC, Christ SE. White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab. 2013;110(3):213-7. doi:10.1016/j.ymgme.2013.07.010  PMCID:PMC3832288  PMID:23928118  
  34. Moeckel D, Grange DK, Wambach JA. Index of Suspicion in the Nursery. Case 1: Neural Tube Defect in Infant of Epileptic Mother Neoreviews. 2013;14(8):e412-e415. 
  35. Antenor-Dorsey JA, Hershey T, Rutlin J, Shimony JS, McKinstry RC, Grange DK, Christ SE, White DA. White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab. 2013;109(2):125-31. doi:10.1016/j.ymgme.2013.03.020  PMCID:PMC3678378  PMID:23608077  
  36. Araujo GC, Christ SE, Grange DK, Steiner RD, Coleman C, Timmerman E, White DA. Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. Dev Neuropsychol. 2013;38(3):139-52. doi:10.1080/87565641.2012.718816  PMID:23573793  
  37. Nichols CG, Singh GK, Grange DK. KATP channels and cardiovascular disease: suddenly a syndrome. Circ Res. 2013;112(7):1059-72. doi:10.1161/CIRCRESAHA.112.300514  PMID:23538276  
  38. McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013;92(1):150-6. doi:10.1016/j.ajhg.2012.11.014  PMCID:PMC3542461  PMID:23261301  
  39. Janos AL, Grange DK, Steiner RD, White DA. Processing speed and executive abilities in children with phenylketonuria. Neuropsychology. 2012;26(6):735-43. doi:10.1037/a0029419  PMCID:PMC3526340  PMID:22866986  
  40. Kimonis VE, Steller J, Sahai I, Grange DK, Shoemaker J, Zelaya BM, Mandell R, Shih K, Shih V. Mild fumarase deficiency and a trial of low protein diet. Mol Genet Metab. 2012;107(1-2):241-2. doi:10.1016/j.ymgme.2012.04.010  PMID:22595425  
  41. van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012;90(6):1094-101. doi:10.1016/j.ajhg.2012.04.014  PMCID:PMC3370286  PMID:22608503  
  42. Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012;33(1):165-79. doi:10.1002/humu.21614  PMID:21948486  
  43. Hucthagowder V, Liu TC, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet. 2012;55(8-9):485-9. doi:10.1016/j.ejmg.2012.04.003  PMID:22579565  
  44. Livingston J, Therrell BL Jr, Mann MY, Anderson CS, Christensen K, Gorski JL, Grange DK, Peck D, Roberston M, Rogers S, Taylor M, Kaye CI. Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned. J Community Genet. 2011;2(4):191-200. doi:10.1007/s12687-011-0055-z  PMCID:PMC3215786  PMID:22109872  
  45. El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011;48(12):840-50. doi:10.1136/jmedgenet-2011-100125  PMID:21984752  
  46. Gu J, Sreenath Nagamani SC, Hopwood VL, Sanchez B, Saeidinejad Y, Ou Z, Peacock S, Grange DK, Stankiewicz P, Cheung SW. Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay. Am J Med Genet A. 2011;155A(10):2589-92. doi:10.1002/ajmg.a.34185  PMID:21910221  
  47. Burton BK, Nowacka M, Hennermann JB, Lipson M, Grange DK, Chakrapani A, Trefz F, Dorenbaum A, Imperiale M, Kim SS, Fernhoff PM. Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Mol Genet Metab. 2011;103(4):315-22. doi:10.1016/j.ymgme.2011.03.020  PMID:21646032  
  48. Burton BK, Adams DJ, Grange DK, Malone JI, Jurecki E, Bausell H, Marra KD, Sprietsma L, Swan KT. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J Pediatr. 2011;158(3):410-5. doi:10.1016/j.jpeds.2010.08.016  PMID:20884009  
  49. Banerjee P, Grange DK, Steiner RD, White DA. Executive strategic processing during verbal fluency performance in children with phenylketonuria. Child Neuropsychol. 2011;17(2):105-17. doi:10.1080/09297049.2010.525502  PMCID:PMC3058256  PMID:21140312  
  50. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010;330(6002):336. doi:10.1126/science.1192632  PMID:20847235  
  51. Milewicz DM, Østergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Adès L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A(10):2437-43. doi:10.1002/ajmg.a.33657  PMCID:PMC3573757  PMID:20734336  
  52. Lennerz JK, Timmerman RJ, Grange DK, DeBaun MR, Feinberg AP, Zehnbauer BA. Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn. 2010;12(5):576-88. doi:10.2353/jmoldx.2010.100005  PMCID:PMC2928421  PMID:20616360  
  53. Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010;47(3):155-61. doi:10.1136/jmg.2009.070573  PMID:19833603  
  54. Toib A, Grange DK, Kozel BA, Ewald GA, White FV, Canter CE. Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women. J Am Coll Cardiol. 2010;55(4):408-10. doi:10.1016/j.jacc.2009.11.019  PMID:20117447  
  55. White DA, Connor LT, Nardos B, Shimony JS, Archer R, Snyder AZ, Moinuddin A, Grange DK, Steiner RD, McKinstry RC. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol Genet Metab. 2010;99 Suppl 1:S41-6. doi:10.1016/j.ymgme.2009.09.016  PMID:20123469  
  56. Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. Mol Syndromol. 2010;1(5):211-222. doi:10.1159/000328203  PMCID:PMC3214944  PMID:22125506  
  57. Schuettpelz LG, McDonald S, Whitesell K, Desruisseau DM, Grange DK, Gurnett CA, Wilson DB. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer. 2009;53(6):1147-9. doi:10.1002/pbc.22193  PMID:19621452  
  58. Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB, Sapropterin Study Group. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr. 2009;154(5):700-7. doi:10.1016/j.jpeds.2008.11.040  PMID:19261295  
  59. Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46(5):308-14. doi:10.1136/jmg.2008.063149  PMID:19188198  
  60. Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol. 2009;129(3):553-63. doi:10.1038/jid.2008.271  PMCID:PMC2900916  PMID:18800149  
  61. Araujo GC, Christ SE, Steiner RD, Grange DK, Nardos B, McKinstry RC, White DA. Response monitoring in children with phenylketonuria. Neuropsychology. 2009;23(1):130-4. doi:10.1037/a0013488  PMID:19210041  
  62. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466-71. doi:10.1038/ng.279  PMCID:PMC2680128  PMID:19029900  
  63. Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, Julian S, Lind A. Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. Am J Med Genet A. 2008;146A(20):2589-97. doi:10.1002/ajmg.a.32503  PMID:18798318  
  64. 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;466(6):1503-9. doi:10.1007/s11999-008-0196-5  PMCID:PMC2384041  PMID:18322662  
  65. Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007;72(5):411-9. doi:10.1111/j.1399-0004.2007.00896.x  PMID:17916097  
  66. Burton BK, Grange DK, Milanowski A, Vockley G, Feillet F, Crombez EA, Abadie V, Harding CO, Cederbaum S, Dobbelaere D, Smith A, Dorenbaum A. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis. 2007;30(5):700-7. doi:10.1007/s10545-007-0605-z  PMID:17846916  
  67. Moulson CL, Fong LG, Gardner JM, Farber EA, Go G, Passariello A, Grange DK, Young SG, Miner JH. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat. 2007;28(9):882-9. doi:10.1002/humu.20536  PMID:17469202  
  68. Grange DK, Lorch SM, Cole PL, Singh GK. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am J Med Genet A. 2006;140(15):1673-80. doi:10.1002/ajmg.a.31348  PMID:16835932  
  69. Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am J Med Genet A. 2006;140(12):1257-63. doi:10.1002/ajmg.a.31265  PMID:16691589  
  70. Christ SE, Steiner RD, Grange DK, Abrams RA, White DA. Inhibitory control in children with phenylketonuria. Dev Neuropsychol. 2006;30(3):845-64. doi:10.1207/s15326942dn3003_5  PMID:17083296  
  71. Grange DK, Kaler SG, Albers GM, Petterchak JA, Thorpe CM, DeMello DE. Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease. Am J Med Genet A. 2005;139A(2):151-5. doi:10.1002/ajmg.a.31001  PMID:16278898  
  72. Grange DK, Garcia-Heras J, Kilani RA, Lamp S. Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype. Am J Med Genet A. 2005;137A(3):308-12. doi:10.1002/ajmg.a.30877  PMID:16092120  
  73. Roessler E, Ermilov AN, Grange DK, Wang A, Grachtchouk M, Dlugosz AA, Muenke M. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet. 2005;14(15):2181-8. doi:10.1093/hmg/ddi222  PMID:15994174  
  74. Loren DJ, Campos Y, d'Azzo A, Wyble L, Grange DK, Gilbert-Barness E, White FV, Hamvas A. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. J Perinatol. 2005;25(7):491-4. doi:10.1038/sj.jp.7211335  PMID:15908988  
  75. Martin RA, Grange DK, Zehnbauer B, Debaun MR. LIT1 and H19 methylation defects in isolated hemihyperplasia. Am J Med Genet A. 2005;134A(2):129-31. doi:10.1002/ajmg.a.30578  PMID:15651076  
  76. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76(4):609-22. doi:10.1086/429346  PMCID:PMC1199298  PMID:15739154  
  77. Hmiel SP, Martin RA, Landt M, Levy FH, Grange DK. Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration. Pediatr Crit Care Med. 2004;5(3):278-81. PMID:15115568  
  78. Brink DS, Luisiri A, Grange DK. Case report: lethal multiple pterygium syndrome. Pediatr Pathol Mol Med. 2003;22(6):461-70. PMID:14578039  
  79. Kaplan SS, Ojemann JG, Grange DK, Fuller C, Park TS. Intracranial infantile myofibromatosis with intraparenchymal involvement. Pediatr Neurosurg. 2002;36(4):214-7. doi:56059  PMID:12006757  
  80. Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001;68(6):1321-6. doi:10.1086/320612  PMCID:PMC1226118  PMID:11326338  
  81. Batanian JR, Grange DK, Fleming R, Gadre B, Wetzel J. Two unbalanced translocations involving a common 6p25 region in two XY female patients. Clin Genet. 2001;59(1):52-7. PMID:11168026  
  82. Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet. 2000;90(5):407-22. PMID:10706363  
  83. Batanian JR, Huang Y, Gottesman GS, Grange DK, Blasingame AV. Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting. Am J Med Genet. 2000;90(4):276-82. PMID:10710223  
  84. Grange DK, Kratz LE, Braverman NE, Kelley RI. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet. 2000;90(4):328-35. PMID:10710233  
  85. Walker LC, Marini JC, Grange DK, Filie J, Yeowell HN. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. Mol Genet Metab. 1999;67(1):74-82. doi:10.1006/mgme.1999.2824  PMID:10329027  
  86. Wall DA, Grange DK, Goulding P, Daines M, Luisiri A, Kotagal S. Bone marrow transplantation for the treatment of alpha-mannosidosis. J Pediatr. 1998;133(2):282-5. PMID:9709723  
  87. Grange DK, Balfour IC, Chen SC, Wood EG. Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. Am J Med Genet. 1998;75(5):469-80. PMID:9489789  
  88. Grange DK, Finlay JL. Nutritional vitamin B12 deficiency in a breastfed infant following maternal gastric bypass. Pediatr Hematol Oncol. 1994;11(3):311-8. PMID:8060815  
  89. Gilbert-Barness E, Drut RM, Drut R, Grange DK, Opitz JM. Developmental abnormalities resulting in short umbilical cord. Birth Defects Orig Artic Ser. 1993;29(1):113-40. PMID:8280869  
  90. Grange DK, Gottesman GS, Lewis MB, Marini JC. Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids. Nucleic Acids Res. 1990;18(14):4227-36. PMCID:PMC331183  PMID:1696002  
  91. Grange DK, Lewis MB, Marini JC. Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis. Am J Med Genet. 1990;36(2):258-64. doi:10.1002/ajmg.1320360223  PMID:2368816  
  92. Gerber LH, Binder H, Weintrob J, Grange DK, Shapiro J, Fromherz W, Berry R, Conway A, Nason S, Marini J. Rehabilitation of children and infants with osteogenesis imperfecta. A program for ambulation. Clin Orthop Relat Res. 1990;(251):254-62. PMID:2295183  
  93. Marini JC, Grange DK, Gottesman GS, Lewis MB, Koeplin DA. Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. J Biol Chem. 1989;264(20):11893-900. PMID:2745420  
  94. Grange DK, Arya S, Opitz JM, Laxova R, Herrmann J, Gilbert EF. The short umbilical cord. Birth Defects Orig Artic Ser. 1987;23(1):191-214. PMID:3580549  
  95. Grange DK, Adair WL Jr. Studies on the biosynthesis of dolichyl phosphate: evidence for the in vitro formation of 2,3-dehydrodolichyl phosphate. Biochem Biophys Res Commun. 1977;79(3):734-40. PMID:597303  
  96. . Loss-of-function Mutations in YY1AP1 Lead to Grange Syndrome and Fibromuscular Dysplasia-Like Vascular Disease American Journal of Human Genetics. 
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