Patient Portal

Dorothy Katherine Grange, MD

Professor, Pediatrics
Division of Medical Genetics

Specialty Areas

Genetics - Pediatric
Medical Genetics - Pediatric

Board Certifications

Pediatrics
Medical Genetics - Clinical Genetics

Hospital Affiliations

St. Louis Children's Hospital
Barnes-Jewish Hospital

Areas of Clinical Interest

medical genetics, genetic disease, genetic counseling, inherited disorders, inborn errors of metabolism, phenylketonuria (PKU), birth defects, malformation syndromes, chromosomal disorders, metabolic disorders,Marfan syndrome, connective tissue disorders, overgrowth disorders, craniofacial disorders, pediatric pathology

  • Location(s)
  • Education
  • Publication & Research

Location(s)

Location(s)

St. Louis Children’s Hospital

1 Children’s Place
St. Louis, MO 63110

Suite: Medical Genetics
Office Phone: 314-454-6093
Fax: 314-454-2075

Education

Education

Fellowship: Interinstitute Fellowship, Medical Genetics,National Institutes of Health, Bethesda, Maryland 1989
Residency: Pathology, University of Wisconsin 1986
Residency: Pediatrics, University of Wisconsin 1985
Residency: Pathology, University of Florida, Gainesville, Florida, 1982
Medical Degree: University of Florida College of Medicine, Gainesville, Florida 1981
A.B. Biochemistry: Mount Holyoke College, South Hadley, Massachusetts 1976

Publication & Research

Publication & Research

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
Körber I, Klein OD, Morhart P, Faschingbauer F, Grange DK, Clarke A, Bodemer C, Maitz S, Huttner K, Kirby N, Durand C, Schneider H
Br J Clin Pharmacol. 2020 Apr 6; doi: 10.1111/bcp.14301.

PMID:
    32250462
    [PubMed - as supplied by publisher]
Related citations


Three-dimensional facial morphology in Cantú syndrome.
Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM
Am J Med Genet A. 2020 Feb 26; doi: 10.1002/ajmg.a.61517.

PMID:
    32100467
    [PubMed - as supplied by publisher]
Related citations


Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK
Am J Med Genet A. 2020 Feb 21; doi: 10.1002/ajmg.a.61518.

PMID:
    32083401
    [PubMed - as supplied by publisher]
Related citations


De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
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
Eur J Hum Genet. 2020 Jan 31; doi: 10.1038/s41431-020-0571-6.

PMID:
    32005960
    [PubMed - as supplied by publisher]
Related citations


Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D
Am J Hum Genet. 2020 Jan 2; 106(1)121-128. doi: 10.1016/j.ajhg.2019.12.004.

PMID:
    31883643
    [PubMed - in process]
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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS, Knoers NVAM, Lee JM, Kirk EP, Scurr I, Smithson SF, Singh GK, van Haelst MM, Nichols CG, van Haaften G
Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4)658-681. doi: 10.1002/ajmg.c.31753.

PMID:
    31828977
    [PubMed - in process]
Related citations


Clinical and Pathological Features of a Newborn With Compound Heterozygous <i>ANKS6</i> Variants.
Kulkarni S, Abro B, Duque Lasio ML, Stoll J, Grange DK, He M
Pediatr Dev Pathol. 2019 Oct 21; 1093526619881541. doi: 10.1177/1093526619881541.

PMID:
    31635528
    [PubMed - as supplied by publisher]
Related citations


White and gray matter brain development in children and young adults with phenylketonuria.
Hawks Z, Hood AM, Lerman-Sinkoff DB, Shimony JS, Rutlin J, Lagoni D, Grange DK, White DA
Neuroimage Clin. 2019; 23101916. doi: 10.1016/j.nicl.2019.101916.

PMID:
    31491833
    [PubMed - in process]
Related citations


Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
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
J Pediatr. 2019 Nov; 214165-167.e1. doi: 10.1016/j.jpeds.2019.07.053.

PMID:
    31477379
    [PubMed - in process]
Related citations


Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
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
Am J Med Genet A. 2019 Aug; 179(8)1585-1590. doi: 10.1002/ajmg.a.61200.

PMID:
    31175705
    [PubMed - in process]
Related citations


Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Kloth K, Bierhals T, Johannsen J, Harms FL, Juusola J, Johnson MC, Grange DK, Kutsche K
Hum Genet. 2019 Jun; 138(6)625-634. doi: 10.1007/s00439-019-02011-x.

PMID:
    30963242
    [PubMed - indexed for MEDLINE]
Related citations


Dichotomous roles of <i>TBX3</i> in the establishment of atrioventricular conduction pathways in the human heart.
Nguyen HH, Grange DK, Johnson MC, Van Hare GF, Jay PY
HeartRhythm Case Rep. 2019 Feb; 5(2)109-111. doi: 10.1016/j.hrcr.2018.11.005.

PMID:
    30820409
    [PubMed]
Related citations


Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
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
Genet Med. 2019 Sep; 21(9)2036-2042. doi: 10.1038/s41436-019-0454-9.

PMID:
    30739909
    [PubMed - indexed for MEDLINE]
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
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
Am J Hum Genet. 2019 Feb 7; 104(2)213-228. doi: 10.1016/j.ajhg.2018.12.010.

PMID:
    30639323
    [PubMed - indexed for MEDLINE]
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Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
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
Am J Hum Genet. 2018 Dec 6; 103(6)968-975. doi: 10.1016/j.ajhg.2018.10.010.

PMID:
    30414627
    [PubMed - indexed for MEDLINE]
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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M, Wang J, Dai H, El-Hattab AW, Faqeih EA, Saleh MA, Al Asmari A, Alwadei AH, Aljadhai YI, AlHashem A, Tabarki B, Lines MA, Grange DK, Benini R, Alsaman AS, Mahmoud A, Katsonis P, Lichtarge O, Wong LC
Mol Genet Metab. 2018 Nov; 125(3)281-291. doi: 10.1016/j.ymgme.2018.07.014.

PMID:
    30177229
    [PubMed - indexed for MEDLINE]
Related citations


Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
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.
Eur J Hum Genet. 2018 Sep; 26(9)1272-1281. doi: 10.1038/s41431-018-0187-2.

PMID:
    29904177
    [PubMed - indexed for MEDLINE]
Related citations


Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria.
Hawks ZW, Strube MJ, Johnson NX, Grange DK, White DA
Dev Neuropsychol. 2018; 43(3)207-218. doi: 10.1080/87565641.2018.1438439.

PMID:
    29432026
    [PubMed - indexed for MEDLINE]
Related citations


Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K<sub>ATP</sub> channel gain-of-function by differential mechanisms.
McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG
J Biol Chem. 2018 Feb 9; 293(6)2041-2052. doi: 10.1074/jbc.RA117.000351.

PMID:
    29275331
    [PubMed - indexed for MEDLINE]
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
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
Am J Hum Genet. 2017 Nov 2; 101(5)768-788. doi: 10.1016/j.ajhg.2017.10.003.

PMID:
    29100089
    [PubMed - indexed for MEDLINE]
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