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Marcia C. Willing MD, PhD,

Professor, Pediatrics
Division of Genetics and Genomic Medicine

Specialty Areas

Genetics - Pediatric

Board Certifications

Pediatrics
Medical Genetics

Hospital Affiliations

Barnes-Jewish West County Hospital
St. Louis Children's Hospital

Areas of Clinical Interest

Genetic counseling, hereditary connective tissue disorders, pediatric  bone mineral conditions, Marfan syndrome, birth defects, screening for newborns, inborn metabolic diseases, genetic syndromes, familial cancer syndromes, chromosomal abnormalities

  • Maps & Directions
  • Education
  • Publication & Research

Maps & Directions

Maps & Directions

Barnes-Jewish West County Hospital
Medical Building Three

1020 N. Mason Road
St. Louis, MO 63141

Office Phone: 314-454-6093
Fax: 314-454-2075

St. Louis Children’s Hospital

1 Children’s Place
St. Louis, MO 63110

Office Phone: 314-454-6093
Fax: 314-454-2075

Education

Education

B.S.: University of Michigan, Ann Arbor, Michigan 1976
Ph.D: George Washington University, NIH Cooperative Graduate Training Program, Washington DC 1981
Fellowship: Medical Genetics, University of Washington, Seattle WA 1990
Medical School: Medical College of Virginia, Richmond, VA 1982
Residency: Children's Hospital Medical Center, Cincinnati OH 1986
B.A.: Goucher College, Maryland 1973

Publication & Research

Publication & Research

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet. 2017 Jul; 54(7)460-470. doi: 10.1136/jmedgenet-2016-104509.

PMID:
    28377535
    [PubMed - in process]
Related citations


Genetic Association of <i>MMP10</i>, <i>MMP14</i>, and <i>MMP16</i> with Dental Caries.
Lewis DD, Shaffer JR, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML
Int J Dent. 2017; 20178465125. doi: 10.1155/2017/8465125.

PMID:
    28348596
    [PubMed]
Related citations


Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F
J Clin Invest. 2017 Mar 1; 127(3)912-928. doi: 10.1172/JCI89626.

PMID:
    28165339
    [PubMed - indexed for MEDLINE]
Related citations


Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries.
Eckert S, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML, Shaffer JR
J Hum Genet. 2017 Apr; 62(4)491-496. doi: 10.1038/jhg.2016.161.

PMID:
    28100911
    [PubMed - indexed for MEDLINE]
Related citations


Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK
Am J Hum Genet. 2016 Sep 1; 99(3)728-734. doi: 10.1016/j.ajhg.2016.06.028.

PMID:
    27545675
    [PubMed - indexed for MEDLINE]
Related citations


Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB
J Bone Joint Surg Am. 2015 Sep 2; 97(17)1411-7. doi: 10.2106/JBJS.O.00290.

PMID:
    26333736
    [PubMed - indexed for MEDLINE]
Related citations


Effects of enamel matrix genes on dental caries are moderated by fluoride exposures.
Shaffer JR, Carlson JC, Stanley BO, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML
Hum Genet. 2015 Feb; 134(2)159-67. doi: 10.1007/s00439-014-1504-7.

PMID:
    25373699
    [PubMed - indexed for MEDLINE]
Related citations


Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
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
Hum Mol Genet. 2014 Oct 1; 23(19)5271-82. doi: 10.1093/hmg/ddu224.

PMID:
    24833718
    [PubMed - indexed for MEDLINE]
Related citations


Genetic Association of MPPED2 and ACTN2 with Dental Caries.
Stanley BO, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML, Shaffer JR
J Dent Res. 2014 Jul; 93(7)626-32. doi: 10.1177/0022034514534688.

PMID:
    24810274
    [PubMed - indexed for MEDLINE]
Related citations


Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS
BMC Med Genet. 2013 Oct 8; 14106. doi: 10.1186/1471-2350-14-106.

PMID:
    24103465
    [PubMed - indexed for MEDLINE]
Related citations


Genetic and environmental factors associated with dental caries in children: the Iowa Fluoride Study.
Wang X, Willing MC, Marazita ML, Wendell S, Warren JJ, Broffitt B, Smith B, Busch T, Lidral AC, Levy SM
Caries Res. 2012; 46(3)177-84. doi: 10.1159/000337282.

PMID:
    22508493
    [PubMed - indexed for MEDLINE]
Related citations


Genome-wide association scan for childhood caries implicates novel genes.
Shaffer JR, Wang X, Feingold E, Lee M, Begum F, Weeks DE, Cuenco KT, Barmada MM, Wendell SK, Crosslin DR, Laurie CC, Doheny KF, Pugh EW, Zhang Q, Feenstra B, Geller F, Boyd HA, Zhang H, Melbye M, Murray JC, Weyant RJ, Crout R, McNeil DW, Levy SM, Slayton RL, Willing MC, Broffitt B, Vieira AR, Marazita ML
J Dent Res. 2011 Dec; 90(12)1457-62. doi: 10.1177/0022034511422910.

PMID:
    21940522
    [PubMed - indexed for MEDLINE]
Related citations


The microcephaly-capillary malformation syndrome.
Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB
Am J Med Genet A. 2011 Sep; 155A(9)2080-7. doi: 10.1002/ajmg.a.34118.

PMID:
    21815250
    [PubMed - indexed for MEDLINE]
Related citations


Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
Am J Med Genet A. 2011 May; 155A(5)1021-32. doi: 10.1002/ajmg.a.33892.

PMID:
    21465651
    [PubMed - indexed for MEDLINE]
Related citations


A hip analysis protocol for pediatric bone densitometry: the Iowa Bone Development Study.
Eichenberger Gilmore JM, Pauley CA, Burns TL, Torner JC, Letuchy EM, Janz KF, Willing MC, Levy SM
J Clin Densitom. 2010 Oct-Dec; 13(4)361-9. doi: 10.1016/j.jocd.2010.06.003.

PMID:
    20850364
    [PubMed - indexed for MEDLINE]
Related citations


Early physical activity provides sustained bone health benefits later in childhood.
Janz KF, Letuchy EM, Eichenberger Gilmore JM, Burns TL, Torner JC, Willing MC, Levy SM
Med Sci Sports Exerc. 2010 Jun; 42(6)1072-8. doi: 10.1249/MSS.0b013e3181c619b2.

PMID:
    19997029
    [PubMed - indexed for MEDLINE]
Related citations


Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM
Eur J Med Genet. 2010 Mar-Apr; 53(2)80-4. doi: 10.1016/j.ejmg.2009.11.001.

PMID:
    19941982
    [PubMed - indexed for MEDLINE]
Related citations


Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM
J Med Genet. 2009 Sep; 46(9)607-13. doi: 10.1136/jmg.2008.062844.

PMID:
    19542084
    [PubMed - indexed for MEDLINE]
Related citations


Sustained effect of early physical activity on body fat mass in older children.
Janz KF, Kwon S, Letuchy EM, Eichenberger Gilmore JM, Burns TL, Torner JC, Willing MC, Levy SM
Am J Prev Med. 2009 Jul; 37(1)35-40. doi: 10.1016/j.amepre.2009.03.012.

PMID:
    19423269
    [PubMed - indexed for MEDLINE]
Related citations


Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM
Am J Hum Genet. 2009 May; 84(5)617-27. doi: 10.1016/j.ajhg.2009.04.007.

PMID:
    19409525
    [PubMed - indexed for MEDLINE]
Related citations