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profileJoan Marilyn Stoler, M.D.

TitleAssociate Professor of Pediatrics
InstitutionBoston Children's Hospital
DepartmentPediatrics
AddressChildrens Hospital
Genetics Division Hunnewell 536
300 Longwood Ave
Boston MA 02115
Fax617/730-0466
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Collapse Mentoring 
Collapse completed student projects
Improving Outcomes Among Children, Families, and Communities Affected by Fetal Alcohol Spectrum Disorder
Full Time/Year Long, 09/12/07 - 05/10/08

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Stoler JM. Prenatal and Postnatal Genetic Testing: Why, How, and When? Pediatr Ann. 2017 Nov 01; 46(11):e423-e427. PMID: 29131922.
    View in: PubMed
  2. Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, Attié-Bitach T, Boutaud L, Héron D, Mignot C. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017 Apr; 136(4):463-479. PMID: 28283832.
    View in: PubMed
  3. Stern CM, Pepin MJ, Stoler JM, Kramer DE, Spencer SA, Stein CJ. Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome. J Pediatr. 2017 Feb; 181:261-266. PMID: 27908650.
    View in: PubMed
  4. Bailey E, Cui Y, Casey A, Stoler JM, Ai X, Ma D, Handin R, Sliz P, Vargas SO, El-Chemaly SY. Pulmonary Vasculopathy Associated with FIGF Gene Mutation. Am J Pathol. 2017 Jan; 187(1):25-32. PMID: 27846380.
    View in: PubMed
  5. Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 2016 Feb; 170A(2):435-40. PMID: 26463574.
    View in: PubMed
  6. Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, Tucker ME, Stoler J, Rodan LH, Stein D, Marks W, Enns GM, Platt J, Cox R, Wheeler PG, Crain C, Calhoun A, Tryon R, Richard G, Vitazka P, Chung WK. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000562. PMID: 27148574; PMCID: PMC4850891.
  7. Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Am J Med Genet A. 2015 Aug; 167A(8):1747-57. PMID: 25944730.
    View in: PubMed
  8. Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. PMID: 25865492; PMCID: PMC4570282.
  9. Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. Am J Med Genet A. 2015 Jun; 167(6):1400-5. PMID: 25846266.
    View in: PubMed
  10. Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. PMID: 25516202; PMCID: PMC4378009.
  11. Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM. Progressive Postnatal Pansynostosis. Cleft Palate Craniofac J. 2015 Nov; 52(6):751-7. PMID: 25350344.
    View in: PubMed
  12. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. PMID: 24811917; PMCID: PMC4487364.
  13. Leeman KT, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal PB. NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. J Perinatol. 2014 May; 34(5):410-1. PMID: 24776604.
    View in: PubMed
  14. Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013 Oct 15; 81(16):1378-86. PMID: 24078737; PMCID: PMC3806907.
  15. Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet A. 2013 Oct; 161A(10):2519-27. PMID: 23956117; PMCID: PMC3788078.
  16. Karaa A, Stoler JM. Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. Case Rep Pediatr. 2013; 2013:764659. PMID: 23762718; PMCID: PMC3670523.
  17. Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012 Dec; 44(12):1360-4. PMID: 23160099; PMCID: PMC3736322.
  18. Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr. 2013 Jan; 162(1):202-4.e1. PMID: 22974575; PMCID: PMC3524393.
  19. Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan 01; 22(1):1-17. PMID: 22949511; PMCID: PMC3606010.
  20. Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec; 33(12):1626-9. PMID: 22829454; PMCID: PMC3495992.
  21. Fickie MR, Stoler JM. Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12. Am J Med Genet A. 2011 Dec; 155A(12):3122-4. PMID: 22002936.
    View in: PubMed
  22. Nelsen LM, Shields KE, Cunningham ML, Stoler JM, Bamshad MJ, Eng PM, Smugar SS, Gould AL, Philip G. Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications. J Allergy Clin Immunol. 2012 Jan; 129(1):251-4.e1-6. PMID: 22000568.
    View in: PubMed
  23. Rosen H, Andrews BT, Meara JG, Stoler JM, Mulliken JB, Rogers GF. Audiologic findings in Saethre-Chotzen syndrome. Plast Reconstr Surg. 2011 May; 127(5):2014-20. PMID: 21532428.
    View in: PubMed
  24. Yu HE, Hawash K, Picker J, Stoler J, Urion D, Wu BL, Shen Y. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet. 2012 Mar; 81(3):257-64. PMID: 21255006.
    View in: PubMed
  25. Rosen H, Chiou GJ, Stoler JM, Mulliken JB, Tarui T, Meara JG, Estroff JA. Magnetic resonance imaging for detection of brain abnormalities in fetuses with cleft lip and/or cleft palate. Cleft Palate Craniofac J. 2011 Sep; 48(5):619-22. PMID: 20815717.
    View in: PubMed
  26. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. PMID: 20468056; PMCID: PMC3001124.
  27. Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A. 2010 Mar; 152A(3):582-90. PMID: 20140963; PMCID: PMC2998041.
  28. Hulick PJ, Noonan KM, Kulkarni S, Donovan DJ, Listewnik M, Ihm C, Stoler JM, Weremowicz S. Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female. Cytogenet Genome Res. 2009; 126(3):305-12. PMID: 20068300; PMCID: PMC3711006.
  29. Stoler JM, Rosen H, Desai U, Mulliken JB, Meara JG, Rogers GF. Cleft palate in Pfeiffer syndrome. J Craniofac Surg. 2009 Sep; 20(5):1375-7. PMID: 19816260.
    View in: PubMed
  30. Stoler JM. A tribute to Lewis B. Holmes: mentor and scholar. Birth Defects Res A Clin Mol Teratol. 2009 Jan; 85(1):1-5. PMID: 18712807.
    View in: PubMed
  31. Taub CC, Stoler JM, Perez-Sanz T, Chu J, Isselbacher EM, Picard MH, Weyman AE. Mitral valve prolapse in Marfan syndrome: an old topic revisited. Echocardiography. 2009 Apr; 26(4):357-64. PMID: 19054044.
    View in: PubMed
  32. Stoler JM, Rogers GF, Mulliken JB. The frequency of palatal anomalies in Saethre-Chotzen syndrome. Cleft Palate Craniofac J. 2009 May; 46(3):280-4. PMID: 19642760.
    View in: PubMed
  33. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. PMID: 18805830; PMCID: PMC4090085.
  34. Hodge JC, Lawson-Yuen A, Stoler JM, Ligon AH. Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3). Cytogenet Genome Res. 2007; 119(1-2):15-20. PMID: 18160776.
    View in: PubMed
  35. Green RF, Stoler JM. Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview. Am J Obstet Gynecol. 2007 Jul; 197(1):12-25. PMID: 17618743.
    View in: PubMed
  36. Cole JA, Modell JG, Haight BR, Cosmatos IS, Stoler JM, Walker AM. Bupropion in pregnancy and the prevalence of congenital malformations. Pharmacoepidemiol Drug Saf. 2007 May; 16(5):474-84. PMID: 16897811.
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  37. Moscarillo TJ, Holt H, Perman M, Goldberg S, Cortellini L, Stoler JM, DeJong W, Miles BJ, Albert MS, Go RC, Blacker D. Knowledge of and attitudes about Alzheimer disease genetics: report of a pilot survey and two focus groups. Community Genet. 2007; 10(2):97-102. PMID: 17380059.
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  38. Stoler JM, Oaklander AL. Patients with Ehlers Danlos syndrome and CRPS: a possible association? Pain. 2006 Jul; 123(1-2):204-9. PMID: 16600507.
    View in: PubMed
  39. Kelleher CM, Silverman EK, Broekelmann T, Litonjua AA, Hernandez M, Sylvia JS, Stoler J, Reilly JJ, Chapman HA, Speizer FE, Weiss ST, Mecham RP, Raby BA. A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 2005 Oct; 33(4):355-62. PMID: 16081882; PMCID: PMC2715343.
  40. 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 Apr; 76(4):609-22. PMID: 15739154; PMCID: PMC1199298.
  41. Stoler JM, Leach NT, Donahoe PK. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive. N Engl J Med. 2004 Nov 25; 351(22):2319-26. PMID: 15564548.
    View in: PubMed
  42. Stoler JM, Holmes LB. Recognition of facial features of fetal alcohol syndrome in the newborn. Am J Med Genet C Semin Med Genet. 2004 May 15; 127C(1):21-7. PMID: 15095468.
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  43. Bearer CF, Stoler JM, Cook JD, Carpenter SJ. Biomarkers of alcohol use in pregnancy. Alcohol Res Health. 2004-2005; 28(1):38-43. PMID: 19006990.
    View in: PubMed
  44. Stoler JM, Sabry MA, Hanley C, Hoppel CL, Shih VE. Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. J Inherit Metab Dis. 2004; 27(5):679-84. PMID: 15669684.
    View in: PubMed
  45. Stoler JM, Ryan LM, Holmes LB. Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome. J Pediatr. 2002 Dec; 141(6):780-5. PMID: 12461493.
    View in: PubMed
  46. Stoler JM. Maternal antiepileptic drug use and effects on fetal development. Curr Opin Pediatr. 2001 Dec; 13(6):566-71. PMID: 11753108.
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  47. Stoler JM, Bromley B, Castro MA, Cole WG, Florer J, Wenstrup RJ. Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. Am J Med Genet. 2001 Jun 15; 101(2):174-7. PMID: 11391664.
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  48. Stoler JM, McGuirk CK, Lieberman E, Ryan L, Holmes LB. Malformations reported in chorionic villus sampling exposed children: a review and analytic synthesis of the literature. Genet Med. 1999 Nov-Dec; 1(7):315-22. PMID: 11263542.
    View in: PubMed
  49. Stoler JM, Holmes LB. Under-recognition of prenatal alcohol effects in infants of known alcohol abusing women. J Pediatr. 1999 Oct; 135(4):430-6. PMID: 10518076.
    View in: PubMed
  50. Stoler JM. Reassessment of patients with the diagnosis of fetal alcohol syndrome. Pediatrics. 1999 Jun; 103(6 Pt 1):1313-5. PMID: 10400526.
    View in: PubMed
  51. Holmes LB, McGuirk CK, Stoler JM, Lieberman E. Limb deficiencies identified by malformations surveillance programs. Am J Med Genet. 1998 Dec 28; 80(5):541-2. PMID: 9880229.
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  52. Stoler JM, Ladoulis M, Holmes LB. Anterior laryngeal webs and 22q11 deletions. Am J Med Genet. 1998 Sep 01; 79(2):152. PMID: 9741474.
    View in: PubMed
  53. Stoler JM, Huntington KS, Peterson CM, Peterson KP, Daniel P, Aboagye KK, Lieberman E, Ryan L, Holmes LB. The prenatal detection of significant alcohol exposure with maternal blood markers. J Pediatr. 1998 Sep; 133(3):346-52. PMID: 9738714.
    View in: PubMed
  54. Natowicz MR, Stoler JM, Prence EM, Liscum L. Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings. Clin Pediatr (Phila). 1995 Apr; 34(4):190-7. PMID: 7789012.
    View in: PubMed
  55. Stoler JM, Herrin JT, Holmes LB. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet. 1995 Jan 30; 55(3):276-8. PMID: 7726222.
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  56. Stoler JM, Doody DP, Holmes LB. A case of a closed partial cloacal septation defect with a patent urachus. Teratology. 1993 Aug; 48(2):97-103. PMID: 8211824.
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  57. Stoler JM, Holmes LB. A case of agnathia, situs inversus, and a normal central nervous system. Teratology. 1992 Sep; 46(3):213-6. PMID: 1523578.
    View in: PubMed
  58. Stoler J, Biller JA, Grand RJ. Pancreatitis in Kawasaki disease. Am J Dis Child. 1987 Mar; 141(3):306-8. PMID: 2433939.
    View in: PubMed
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