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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

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]
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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 - in process]
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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]
Related citations


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]
Related citations


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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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
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
Genome Med. 2017 Aug 14; 9(1)73. doi: 10.1186/s13073-017-0463-8.

PMID:
    28807008
    [PubMed - indexed for MEDLINE]
Related citations


Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
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
J Pediatr. 2017 Nov; 190130-135. doi: 10.1016/j.jpeds.2017.06.048.

PMID:
    28728811
    [PubMed - indexed for MEDLINE]
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Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
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
Hum Mutat. 2017 Nov; 38(11)1477-1484. doi: 10.1002/humu.23297.

PMID:
    28726266
    [PubMed - indexed for MEDLINE]
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Automatic recognition of the XLHED phenotype from facial images.
Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S, Bodemer C, Grange DK
Am J Med Genet A. 2017 Sep; 173(9)2408-2414. doi: 10.1002/ajmg.a.38343.

PMID:
    28691769
    [PubMed - indexed for MEDLINE]
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Hypohidrotic Ectodermal Dysplasia
Wright JT, Grange DK, Fete M, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A
. 1993;

PMID:
    20301291
    [PubMed]
Related citations


Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria.
Hawks Z, Shimony J, Rutlin J, Grange DK, Christ SE, White DA
Mol Genet Metab Rep. 2017 Sep; 128-13. doi: 10.1016/j.ymgmr.2017.01.013.

PMID:
    28271047
    [PubMed]
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