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 - 2018MO
1990 - PresClinical Genetics, American Board of Medical Genetics
2002 - 2018IL
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 (120)

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.

Sheel Pathak

Andrea Coverstone, M.D.

Charles Canter, M.D.

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.

Lisa Connor

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.	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
2.	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
3.	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
4.	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
5.	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
6.	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
7.	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
8.	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
9.	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
10.	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
11.	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
12.	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
13.	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
14.	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
15.	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
16.	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
17.	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
18.	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
19.	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
20.	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
21.	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
22.	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
23.	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
24.	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
25.	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
26.	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
27.	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
28.	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
29.	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
30.	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
31.	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
32.	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
33.	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
34.	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
35.	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
36.	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
37.	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
38.	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
39.	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
40.	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
41.	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
42.	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
43.	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
44.	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
45.	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
46.	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
47.	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
48.	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
49.	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
50.	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
51.	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
52.	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
53.	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
54.	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
55.	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
56.	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
57.	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
58.	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
59.	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.
60.	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
61.	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
62.	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
63.	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
64.	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
65.	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
66.	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
67.	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
68.	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
69.	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
70.	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
71.	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
72.	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
73.	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
74.	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
75.	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
76.	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
77.	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
78.	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
79.	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
80.	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
81.	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
82.	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
83.	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
84.	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
85.	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
86.	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
87.	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
88.	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
89.	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
90.	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
91.	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
92.	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
93.	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
94.	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
95.	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
96.	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
97.	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
98.	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
99.	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
100.	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
101.	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
102.	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
103.	Brink DS, Luisiri A, Grange DK. Case report: lethal multiple pterygium syndrome. Pediatr Pathol Mol Med. 2003;22(6):461-70. PMID:14578039
104.	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
105.	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
106.	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
107.	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
108.	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
109.	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
110.	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
111.	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
112.	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
113.	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
114.	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
115.	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
116.	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
117.	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
118.	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
119.	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
120.	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