Marcia C. Willing, M.D., Ph. D.

Professor of Pediatrics, Department of Pediatrics, Division of Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093


  • B.A., Goucher College1976
  • MSc, University of Michigan1976
  • Ph.D., George Washington University and the NIH Cooperative Graduate Training Program1981
  • M.D., Medical College of Virginia1982


  • Pediatrics, Children’s Hospital Medical Center1982 - 1985
  • Medical Genetics, Univ of Washington1985 - 1988

Licensure and Board Certification

  • American Board of Pediatrics1987
  • American Board of Medical Genetics1990
  • IA, 1991
  • MO, Missouri State2009


  • Hulda Irene Duggan Award, Arthritis Foundation1989
  • Carver Clinician Scientist Award, University of Iowa1991
  • Virginia P. Engalitcheff Award, Arthritis Foundation1994

Recent Publications view all (68)

Publication Co-Authors

  1. 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. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016. PMID:27545675  
  2. Braverman AC, Moon MR, Geraghty P, Willing M, Bach C, Kouchoukos NT. Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. Am J Med Genet A. 2016;170(8):2177-80. PMID:27125181  
  3. Ananth AL, Robichaux-Viehoever A, Kim YM, Hanson-Kahn A, Cox R, Enns GM, Strober J, Willing M, Schlaggar BL, Wu YW, Bernstein JA. Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. Pediatr Neurol. 2016;59:81-4. PMID:27068059  
  4. 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  
  5. Haller G, Alvarado D, Mccall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis. Hum Mol Genet. 2016;25(1):202-9. PMCID:PMC4690498  PMID:26566670  
  6. Amarillo IE, O'Connor S, Lee CK, Willing M, Wambach JA. De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome. Am J Med Genet A. 2015;167A(12):2966-74. PMID:26768185  
  7. Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB. Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. J Bone Joint Surg Am. 2015;97(17):1411-7. doi:10.2106/JBJS.O.00290  PMCID:PMC4551173  PMID:26333736  
  8. 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. Effects of enamel matrix genes on dental caries are moderated by fluoride exposures. Hum Genet. 2015;134(2):159-67. PMCID:PMC4293346  PMID:25373699  
  9. Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J, GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project., Montalcino Aortic Consortium., Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet. 2015;96(1):170-7. PMCID:PMC4289682  PMID:25557781  
  10. 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;23(19):5271-82. PMCID:PMC4159151  PMID:24833718  
  11. 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. Genetic Association of MPPED2 and ACTN2 with Dental Caries. J Dent Res. 2014;93(7):626-632. doi:10.1177/0022034514534688  PMCID:PMCID: PMC4107549 [Available on 2015-07-01]  PMID:24810274  
  12. van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet. 2013;14(10/08/14):106. doi:10.1186/1471-2350-14-106  PMCID:PMC3852179  PMID:24103465  
  13. McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013;45(5):556-62. doi:10.1038/ng.2602  PMID:23542699  
  14. Nimmakayalu M, Noble N, Horton VK, Willing M, Copeland S, Sheffield V, Nagy PL, Wassink T, Patil S, Shchelochkov OA. 2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster. Am J Med Genet A. 2012;158A(11):2767-74. doi:10.1002/ajmg.a.35362  PMID:23023937  
  15. Wang X, Willing MC, Marazita ML, Wendell S, Warren JJ, Broffitt B, Smith B, Busch T, Lidral AC, Levy SM. Genetic and environmental factors associated with dental caries in children: the Iowa Fluoride Study. Caries Res. 2012;46(3):177-84. doi:000337282  PMCID:PMC3580152  PMID:22508493  
  16. 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. Genome-wide association scan for childhood caries implicates novel genes. J Dent Res. 2011;90(12):1457-62. doi:10.1177/0022034511422910  PMCID:PMC3215757  PMID:21940522  
  17. Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. The microcephaly-capillary malformation syndrome. Am J Med Genet A. 2011;155A(9):2080-7. doi:10.1002/ajmg.a.34118  PMCID:PMC3428374  PMID:21815250  
  18. Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011;155A(5):1021-32. doi:10.1002/ajmg.a.33892  PMID:21465651  
  19. Inamoto S, Kwartler CS, Lafont AL, Liang YY, Fadulu VT, Duraisamy S, Willing M, Estrera A, Safi H, Hannibal MC, Carey J, Wiktorowicz J, Tan FK, Feng XH, Pannu H, Milewicz DM. TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. Cardiovasc Res. 2010;88(3):520-9. doi:10.1093/cvr/cvq230  PMCID:PMC2972687  PMID:20628007  
  20. Janz KF, Letuchy EM, Eichenberger Gilmore JM, Burns TL, Torner JC, Willing MC, Levy SM. Early physical activity provides sustained bone health benefits later in childhood. Med Sci Sports Exerc. 2010;42(6):1072-8. doi:10.1249/MSS.0b013e3181c619b2  PMCID:PMC2874089  PMID:19997029  
  21. 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. Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. Eur J Med Genet. 2010;53(2):80-4. doi:10.1016/j.ejmg.2009.11.001  PMID:19941982  
  22. Eichenberger Gilmore JM, Pauley CA, Burns TL, Torner JC, Letuchy EM, Janz KF, Willing MC, Levy SM. A hip analysis protocol for pediatric bone densitometry: the Iowa Bone Development Study. J Clin Densitom. 2010;13(4):361-9. doi:10.1016/j.jocd.2010.06.003  PMCID:PMC3401562  PMID:20850364  
  23. Levy SM, Eichenberger-Gilmore J, Warren JJ, Letuchy E, Broffitt B, Marshall TA, Burns T, Willing M, Janz K, Torner JC. Associations of fluoride intake with children's bone measures at age 11. Community Dent Oral Epidemiol. 2009;37(5):416-26. doi:10.1111/j.1600-0528.2009.00478.x  PMCID:PMC2765810  PMID:19740248  
  24. 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. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009;46(9):607-13. doi:10.1136/jmg.2008.062844  PMID:19542084  
  25. Janz KF, Kwon S, Letuchy EM, Eichenberger Gilmore JM, Burns TL, Torner JC, Willing MC, Levy SM. Sustained effect of early physical activity on body fat mass in older children. Am J Prev Med. 2009;37(1):35-40. doi:10.1016/j.amepre.2009.03.012  PMCID:PMC2760597  PMID:19423269  
  26. 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. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009;84(5):617-27. doi:10.1016/j.ajhg.2009.04.007  PMCID:PMC2680995  PMID:19409525  
  27. Janz KF, Medema-Johnson HC, Letuchy EM, Burns TL, Gilmore JM, Torner JC, Willing M, Levy SM. Subjective and objective measures of physical activity in relationship to bone mineral content during late childhood: the Iowa Bone Development Study. Br J Sports Med. 2008;42(8):658-63. doi:10.1136/bjsm.2008.047779  PMID:18603581  
  28. Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007;39(12):1488-93. doi:10.1038/ng.2007.6  PMID:17994018  
  29. Janz KF, Gilmore JM, Burns TL, Levy SM, Torner JC, Willing MC, Marshall TA. Physical activity augments bone mineral accrual in young children: The Iowa Bone Development study. J Pediatr. 2006;148(6):793-9. doi:10.1016/j.jpeds.2006.01.045  PMID:16769389  
  30. Wengreen H, Cutler DR, Munger R, Willing M. Vitamin D receptor genotype and risk of osteoporotic hip fracture in elderly women of Utah: an effect modified by parity. Osteoporos Int. 2006;17(8):1146-53. doi:10.1007/s00198-006-0100-7  PMID:16758135  
  31. Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005;112(4):513-20. doi:10.1161/CIRCULATIONAHA.105.537340  PMID:16027248  
  32. Willing MC, Torner JC, Burns TL, Janz KF, Marshall TA, Gilmore J, Warren JJ, Levy SM. Percentile distributions of bone measurements in Iowa children: the Iowa Bone Development Study. J Clin Densitom. 2005;8(1):39-47. PMID:15722586  
  33. Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN. Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. Am J Med Genet A. 2004;131(2):155-62. doi:10.1002/ajmg.a.30302  PMID:15523625  
  34. Janz KF, Burns TL, Levy SM, Torner JC, Willing MC, Beck TJ, Gilmore JM, Marshall TA. Everyday activity predicts bone geometry in children: the iowa bone development study. Med Sci Sports Exerc. 2004;36(7):1124-31. PMID:15235315  
  35. Wenstrup RJ, Florer JB, Cole WG, Willing MC, Birk DE. Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. J Cell Biochem. 2004;92(1):113-24. doi:10.1002/jcb.20024  PMID:15095409  
  36. Sowers M, Jannausch ML, Liang W, Willing M. Estrogen receptor genotypes and their association with the 10-year changes in bone mineral density and osteocalcin concentrations. J Clin Endocrinol Metab. 2004;89(2):733-9. doi:10.1210/jc.2003-030691  PMID:14764789  
  37. Hasham SN, Lewin MR, Tran VT, Pannu H, Muilenburg A, Willing M, Milewicz DM. Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families. Ann Emerg Med. 2004;43(1):79-82. doi:10.1016/S0196064403008187  PMID:14707946  
  38. Willing MC, Torner JC, Burns TL, Janz KF, Marshall T, Gilmore J, Deschenes SP, Warren JJ, Levy SM. Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study. Osteoporos Int. 2003;14(8):650-8. doi:10.1007/s00198-003-1416-1  PMID:12879219  
  39. Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003;107(25):3184-90. doi:10.1161/01.CIR.0000078634.33124.95  PMID:12821554  
  40. Janz KF, Levy SM, Burns TL, Torner JC, Willing MC, Warren JJ. Fatness, physical activity, and television viewing in children during the adiposity rebound period: the Iowa Bone Development Study. Prev Med. 2002;35(6):563-71. PMID:12460524  
  41. Pace JM, Atkinson M, Willing MC, Wallis G, Byers PH. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. Hum Mutat. 2001;18(4):319-26. doi:10.1002/humu.1193  PMID:11668615  
  42. Pace JM, Kuslich CD, Willing MC, Byers PH. Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta. J Med Genet. 2001;38(7):443-9. PMCID:PMC1757177  PMID:11432962  
  43. Janz KF, Burns TL, Torner JC, Levy SM, Paulos R, Willing MC, Warren JJ. Physical activity and bone measures in young children: the Iowa bone development study. Pediatrics. 2001;107(6):1387-93. PMID:11389262  
  44. Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet. 2000;66(6):1766-76. doi:10.1086/302930  PMCID:PMC1378044  PMID:10777716  
  45. Slayton RL, Deschenes SP, Willing MC. Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. Matrix Biol. 2000;19(1):1-9. PMID:10686420  
  46. Raymond MH, Schutte BC, Torner JC, Burns TL, Willing MC. Osteocalcin: genetic and physical mapping of the human gene BGLAP and its potential role in postmenopausal osteoporosis. Genomics. 1999;60(2):210-7. doi:10.1006/geno.1999.5893  PMID:10486212  
  47. Sowers M, Willing M, Burns T, Deschenes S, Hollis B, Crutchfield M, Jannausch M. Genetic markers, bone mineral density, and serum osteocalcin levels. J Bone Miner Res. 1999;14(8):1411-9. doi:10.1359/jbmr.1999.14.8.1411  PMID:10457274  
  48. Milewicz DM, Chen H, Park ES, Petty EM, Zaghi H, Shashidhar G, Willing M, Patel V. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998;82(4):474-9. PMID:9723636  
  49. Willing M, Sowers M, Aron D, Clark MK, Burns T, Bunten C, Crutchfield M, D'Agostino D, Jannausch M. Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J Bone Miner Res. 1998;13(4):695-705. doi:10.1359/jbmr.1998.13.4.695  PMID:9556070  
  50. Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998;7(2):249-55. PMID:9425231  
  51. Willing MC, Torner JC, Burns TL, Segar ET, Werner JR. Determinants of bone mineral density in postmenopausal white Iowans. J Gerontol A Biol Sci Med Sci. 1997;52(6):M337-42. PMID:9402939  
  52. Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum Mol Genet. 1996;5(11):1733-6. PMID:8923000  
  53. Willing MC, Deschenes SP, Slayton RL, Roberts EJ. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet. 1996;59(4):799-809. PMCID:PMC1914787  PMID:8808594  
  54. Willing MC, Slayton RL, Pitts SH, Deschenes SP. Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. J Med Genet. 1995;32(9):697-700. PMCID:PMC1051669  PMID:8544188  
  55. Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat H, Roberts EJ. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet. 1994;55(4):638-47. PMCID:PMC1918287  PMID:7942841  
  56. Willing MC, Pruchno CJ, Byers PH. Molecular heterogeneity in osteogenesis imperfecta type I. Am J Med Genet. 1993;45(2):223-7. doi:10.1002/ajmg.1320450214  PMID:8456806  
  57. Willing MC, Pruchno CJ, Atkinson M, Byers PH. Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet. 1992;51(3):508-15. PMCID:PMC1682712  PMID:1353940  
  58. Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet. 1991;28(7):433-42. PMCID:PMC1016951  PMID:1895312  
  59. Pruchno CJ, Cohn DH, Wallis GA, Willing MC, Starman BJ, Zhang XM, Byers PH. Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. Hum Genet. 1991;87(1):33-40. PMID:2037280  
  60. Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet. 1990;46(5):975-82. PMCID:PMC1683590  PMID:2339695  
  61. Willing MC, Cohn DH, Byers PH. Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. J Clin Invest. 1990;85(1):282-90. doi:10.1172/JCI114424  PMCID:PMC296416  PMID:2295701  
  62. Willing MC, Cohn DH, Starman B, Holbrook KA, Greenberg CR, Byers PH. Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem. 1988;263(17):8398-404. PMID:3372533  
  63. Cohn DH, Wenstrup RJ, Willing MC, Bonadio JF, Byers PH. General strategies for isolating the genes encoding type I collagen and for characterizing mutations which produce osteogenesis imperfecta. Ann N Y Acad Sci. 1988;543:129-35. PMID:3063159  
  64. Byers PH, Bonadio JF, Cohn DH, Starman BJ, Wenstrup RJ, Willing MC. Osteogenesis imperfecta: the molecular basis of clinical heterogeneity. Ann N Y Acad Sci. 1988;543:117-28. PMID:3063158  
  65. Vembu D, Young NS, Willing M, Church E, Sanders-Haigh L, Anderson WF. Regulation of human globin gene expression in mouse erythroleukemia x human fibroblast hybrid cells. Somatic Cell Genet. 1982;8(2):163-78. PMID:9732747  
  66. Willing MC, Nienhuis AW, Anderson WF. Selective activation of human beta-but not gamma-globin gene in human fibroblast x mouse erythroleukaemia cell hybrids. Nature. 1979;277(5697):534-8. PMID:283312  
  67. Axelrod DE, Gopalakrishnan TV, Willing M, Anderson WF. Maintenance of hemoglobin inducibility in somatic cell hybrids of tetraploid (2S) mouse erythroleukemia cells with mouse or human fibroblasts. Somatic Cell Genet. 1978;4(2):157-68. PMID:276093  
  68. Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A. Braun, Carolin E. Sadowski, Eugen Widmeier,Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H. Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois Bernier, Julian P. Midgley, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S. Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R. Dharnidharka, Anne M. Connolly, Marcia C. Willing, Megan A. Cooper, Richard P. Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D. Saba, and Friedhelm Hildebrandt. SGPL1 mutations cause nephrosis with ichthyosis and adrenalinsufficiency Journal of Clinical Investigation. 1-31. 
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