Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Joan Marilyn Stoler, M.D.

Title
Institution
Department
Address
Fax

Mentoring
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

Bibliographic
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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Oct; 24(10):2207. PMID: 36205747; PMCID: PMC9598985.
    Citations:    Fields:    
  2. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW, Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 05 01; 149(5). PMID: 35490285.
    Citations:    Fields:    Translation:Humans
  3. Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 07; 24(7):1567-1582. PMID: 35482014; PMCID: PMC9426662.
    Citations:    Fields:    Translation:HumansAnimals
  4. Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 10; 23(10):1889-1900. PMID: 34113007; PMCID: PMC8487929.
    Citations: 4     Fields:    Translation:HumansAnimals
  5. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. PMID: 33783954; PMCID: PMC8631250.
    Citations: 2     Fields:    Translation:Humans
  6. Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. PMID: 33232677.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  7. Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 10; 28(10):1422-1431. PMID: 32483341; PMCID: PMC7608102.
    Citations: 6     Fields:    Translation:HumansCells
  8. Baker JJ, Stoler JM. Recent developments in fetal alcohol spectrum disorder. Curr Opin Endocrinol Diabetes Obes. 2020 02; 27(1):77-81. PMID: 31789722.
    Citations: 1     Fields:    Translation:Humans
  9. Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68. PMID: 31834374; PMCID: PMC7962909.
    Citations: 11     Fields:    Translation:HumansCells
  10. Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. PMID: 31780822; PMCID: PMC7127968.
    Citations: 26     Fields:    Translation:Humans
  11. Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. J Genet Couns. 2019 12; 28(6):1107-1118. PMID: 31478310.
    Citations: 8     Fields:    Translation:Humans
  12. Wojcik MH, Linnea K, Stoler JM, Rappaport L. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. Am J Med Genet A. 2019 08; 179(8):1565-1569. PMID: 31074943; PMCID: PMC6663627.
    Citations: 5     Fields:    Translation:Humans
  13. Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. PMID: 30131872; PMCID: PMC6089983.
    Citations: 6     
  14. Stoler J. Genetics and Metabolism. Pediatr Ann. 2018 05 01; 47(5):e185-e186. PMID: 29750284.
    Citations:    Fields:    Translation:HumansPHPublic Health
  15. Jamuar SS, Picker JD, Stoler JM. Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. J Pediatr. 2018 05; 196:270-274.e1. PMID: 29398060.
    Citations: 2     Fields:    Translation:Humans
  16. Stoler JM. Prenatal and Postnatal Genetic Testing: Why, How, and When? Pediatr Ann. 2017 Nov 01; 46(11):e423-e427. PMID: 29131922.
    Citations:    Fields:    Translation:Humans
  17. 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 04; 136(4):463-479. PMID: 28283832.
    Citations: 28     Fields:    Translation:HumansCells
  18. 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 02; 181:261-266. PMID: 27908650.
    Citations: 16     Fields:    Translation:Humans
  19. 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; PMCID: PMC5225300.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  20. 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):435-440. PMID: 26463574; PMCID: PMC5315085.
    Citations: 12     Fields:    Translation:HumansAnimals
  21. 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.
    Citations: 13     Fields:    
  22. 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.
    Citations: 19     Fields:    Translation:Humans
  23. 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.
    Citations: 28     Fields:    Translation:Humans
  24. 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.
    Citations: 2     Fields:    Translation:HumansCells
  25. 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.
    Citations: 32     Fields:    Translation:Humans
  26. Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM. Progressive Postnatal Pansynostosis. Cleft Palate Craniofac J. 2015 11; 52(6):751-7. PMID: 25350344.
    Citations: 2     Fields:    Translation:Humans
  27. Savage SK, Ziniel SI, Stoler J, Margulies DM, Holm IA, Brownstein CA. An assessment of clinician and researcher needs for support in the era of genomic medicine. Per Med. 2014 Aug; 11(6):569-579. PMID: 29758800.
    Citations: 2     Fields:    
  28. 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.
    Citations: 64     Fields:    Translation:Humans
  29. 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.
    Citations: 1     Fields:    Translation:Humans
  30. 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.
    Citations: 44     Fields:    Translation:HumansAnimals
  31. 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.
    Citations: 23     Fields:    Translation:HumansAnimals
  32. Karaa A, Stoler JM. Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. Case Rep Pediatr. 2013; 2013:764659. PMID: 23762718.
    Citations: 10     
  33. 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.
    Citations: 50     Fields:    Translation:Humans
  34. 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.
    Citations: 17     Fields:    Translation:Humans
  35. 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.
    Citations: 57     Fields:    Translation:HumansCells
  36. 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.
    Citations: 10     Fields:    Translation:HumansCells
  37. 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.
    Citations: 5     Fields:    Translation:HumansCells
  38. 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.
    Citations: 4     Fields:    Translation:Humans
  39. 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):2014-2020. PMID: 21532428.
    Citations: 1     Fields:    Translation:Humans
  40. 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.
    Citations: 17     Fields:    Translation:HumansCells
  41. 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.
    Citations: 1     Fields:    Translation:Humans
  42. 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.
    Citations: 131     Fields:    Translation:Humans
  43. 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.
    Citations: 24     Fields:    Translation:HumansAnimalsCells
  44. 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.
    Citations: 10     Fields:    Translation:HumansCells
  45. 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.
    Citations: 7     Fields:    Translation:Humans
  46. 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.
    Citations:    Fields:    
  47. 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.
    Citations: 11     Fields:    Translation:Humans
  48. 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.
    Citations: 7     Fields:    Translation:Humans
  49. 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.
    Citations: 143     Fields:    Translation:HumansCells
  50. 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.
    Citations: 1     Fields:    Translation:HumansCells
  51. 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.
    Citations: 13     Fields:    Translation:HumansAnimals
  52. 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.
    Citations: 39     Fields:    Translation:Humans
  53. 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.
    Citations: 7     Fields:    Translation:Humans
  54. Stoler JM, Oaklander AL. Patients with Ehlers Danlos syndrome and CRPS: a possible association? Pain. 2006 Jul; 123(1-2):204-9. PMID: 16600507.
    Citations: 10     Fields:    Translation:Humans
  55. 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.
    Citations: 29     Fields:    Translation:HumansAnimalsCells
  56. 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.
    Citations: 88     Fields:    Translation:HumansCells
  57. 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.
    Citations:    Fields:    Translation:Humans
  58. 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.
    Citations: 7     Fields:    Translation:Humans
  59. 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.
    Citations: 4     Fields:    Translation:HumansCells
  60. 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.
    Citations: 9     Fields:    Translation:HumansPHPublic Health
  61. 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.
    Citations: 17     Fields:    Translation:Humans
  62. Stoler JM. Maternal antiepileptic drug use and effects on fetal development. Curr Opin Pediatr. 2001 Dec; 13(6):566-71. PMID: 11753108.
    Citations: 1     Fields:    Translation:HumansAnimals
  63. 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.
    Citations: 1     Fields:    Translation:Humans
  64. 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.
    Citations: 2     Fields:    Translation:Humans
  65. 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.
    Citations: 17     Fields:    Translation:Humans
  66. Stoler JM. Reassessment of patients with the diagnosis of fetal alcohol syndrome. Pediatrics. 1999 Jun; 103(6 Pt 1):1313-5. PMID: 10400526.
    Citations: 1     Fields:    Translation:HumansCells
  67. 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.
    Citations:    Fields:    Translation:HumansPHPublic Health
  68. 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.
    Citations: 21     Fields:    Translation:Humans
  69. Stoler JM, Ladoulis M, Holmes LB. Anterior laryngeal webs and 22q11 deletions. Am J Med Genet. 1998 Sep 01; 79(2):152. PMID: 9741474.
    Citations:    Fields:    Translation:HumansCells
  70. 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.
    Citations: 2     Fields:    Translation:HumansCells
  71. 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.
    Citations: 6     Fields:    Translation:Humans
  72. 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.
    Citations:    Fields:    Translation:Humans
  73. 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.
    Citations: 4     Fields:    Translation:Humans
  74. Stoler J, Biller JA, Grand RJ. Pancreatitis in Kawasaki disease. Am J Dis Child. 1987 Mar; 141(3):306-8. PMID: 2433939.
    Citations: 4     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.