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Angela Elizabeth Lin, M.D.

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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. Said JT, Pithadia DJ, Snyder E, Elsharkawi I, Lin A, Lilly E. Dermatologic findings in individuals with Turner syndrome: A cross-sectional study across the lifespan. J Am Acad Dermatol. 2021 Oct 22. PMID: 34688825.
    Citations:    Fields:    
  2. Lin AE, Murali CN, Neri G. Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):107-110. PMID: 34050599.
    Citations:    Fields:    Translation:Humans
  3. Heyne TF, Neri G, Lin AE. The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):168-172. PMID: 33982378.
    Citations:    Fields:    Translation:Humans
  4. Hammarsjö A, Pettersson M, Chitayat D, Handa A, Anderlid BM, Bartocci M, Basel D, Batkovskyte D, Beleza-Meireles A, Conner P, Eisfeldt J, Girisha KM, Chung BH, Horemuzova E, Hyodo H, Kornejeva L, Lagerstedt-Robinson K, Lin AE, Magnusson M, Moosa S, Nayak SS, Nilsson D, Ohashi H, Ohashi-Fukuda N, Stranneheim H, Taylan F, Traberg R, Voss U, Wirta V, Nordgren A, Nishimura G, Lindstrand A, Grigelioniene G. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. J Hum Genet. 2021 Oct; 66(10):995-1008. PMID: 33875766.
    Citations:    Fields:    
  5. Hildebrandt CC, Patel N, Graham JM, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE, Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE. Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. Am J Med Genet A. 2021 07; 185(7):2136-2149. PMID: 33783941.
    Citations:    Fields:    
  6. Matalon DR, Stevenson DA, Bhoj EJ, Santani AB, Keena B, Cohen MS, Lin AE, Sheppard SE, Zackai EH. Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. Am J Med Genet A. 2021 05; 185(5):1486-1493. PMID: 33683002.
    Citations:    Fields:    Translation:Humans
  7. Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2021 Mar; 53(3):412. PMID: 33432185.
    Citations:    Fields:    
  8. Lin AE, Brunetti-Pierri N, Callewaert B, Cormier-Daire V, Douzgou S, Kinane TB, Lindsay ME, Starr LJ. Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification. Geroscience. 2021 04; 43(2):459-461. PMID: 33630210.
    Citations:    Fields:    Translation:Humans
  9. Snyder EA, San Roman AK, Piña-Aguilar RE, Steeves MA, McNamara EA, Souter I, Hayes FJ, Levitsky LL, Lin AE. Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management. Eur J Med Genet. 2021 Mar; 64(3):104140. PMID: 33524610.
    Citations: 1     Fields:    Translation:HumansCells
  10. Viuff MH, Stochholm K, Lin A, Berglund A, Juul S, Gravholt CH. Cancer occurrence in Turner syndrome and the effect of sex hormone substitution therapy. Eur J Endocrinol. 2021 Jan; 184(1):79-88. PMID: 33112259.
    Citations: 1     Fields:    Translation:Humans
  11. Pierpont EI, Berry SA, Lin AE, Lohr JL, Schimmenti LA, Dobyns WB. Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020). Am J Med Genet A. 2021 02; 185(2):319-323. PMID: 33241662.
    Citations:    Fields:    Translation:Humans
  12. Lin AE, Jalali M. Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai. Am J Med Genet C Semin Med Genet. 2021 06; 187(2):148-150. PMID: 33135837.
    Citations:    Fields:    Translation:Humans
  13. Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2020 10; 52(10):1046-1056. PMID: 32989326.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  14. Gurvitz M, Dunn JE, Bhatt A, Book WM, Glidewell J, Hogue C, Lin AE, Lui G, McGarry C, Raskind-Hood C, Van Zutphen A, Zaidi A, Jenkins K, Riehle-Colarusso T. Characteristics of Adults With Congenital Heart Defects in the United States. J Am Coll Cardiol. 2020 07 14; 76(2):175-182. PMID: 32646567.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  15. Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5). PMID: 32034419.
    Citations: 2     Fields:    Translation:HumansCells
  16. Heinke D, Nestoridi E, Hernandez-Diaz S, Williams PL, Rich-Edwards JW, Lin AE, Van Bennekom CM, Mitchell AA, Nembhard WN, Fretts RC, Roberts DJ, Duke CW, Carmichael SL, Yazdy MM. Risk of Stillbirth for Fetuses With Specific Birth Defects. Obstet Gynecol. 2020 01; 135(1):133-140. PMID: 31809437.
    Citations: 4     Fields:    Translation:HumansPHPublic Health
  17. 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.
    Citations: 5     Fields:    Translation:HumansCells
  18. Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):53-63. PMID: 31868316.
    Citations: 2     Fields:    Translation:Humans
  19. Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 02; 182(2):328-337. PMID: 31837202.
    Citations: 3     Fields:    Translation:Humans
  20. Jafri RZ, McNamara EA, Snyder EA, Shah U, Singh I, Hayes FJ, Lin AE, Levitsky LL. Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic. Horm Res Paediatr. 2019; 92(5):328-334. PMID: 31563903.
    Citations:    Fields:    Translation:Humans
  21. Lin AE, Prakash SK, Andersen NH, Viuff MH, Levitsky LL, Rivera-Davila M, Crenshaw ML, Hansen L, Colvin MK, Hayes FJ, Lilly E, Snyder EA, Nader-Eftekhari S, Aldrich MB, Bhatt AB, Prager LM, Arenivas A, Skakkebaek A, Steeves MA, Kreher JB, Gravholt CH. Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years. . 2019 10; 179(10):1987-2033. PMID: 31418527.
    Citations: 4     Translation:HumansCells
  22. McCallen LM, Ameduri RK, Denfield SW, Dodd DA, Everitt MD, Johnson JN, Lee TM, Lin AE, Lohr JL, May LJ, Pierpont ME, Stevenson DA, Chatfield KC. Cardiac transplantation in children with Noonan syndrome. Pediatr Transplant. 2019 09; 23(6):e13535. PMID: 31259454.
    Citations: 1     Fields:    Translation:Humans
  23. Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling. Biol Psychiatry. 2020 01 15; 87(2):100-112. PMID: 31443933.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  24. Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 09; 179(9):1725-1744. PMID: 31222966.
    Citations: 10     Fields:    Translation:Humans
  25. Downing KF, Riehle-Colarusso T, Gilboa SM, Lin AE, Oster ME, Tinker SC, Farr SL. Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011. Cardiol Young. 2019 Jun; 29(6):819-827. PMID: 31159903.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  26. Cassetta L, Baekkevold ES, Brandau S, Bujko A, Cassatella MA, Dorhoi A, Krieg C, Lin A, Loré K, Marini O, Pollard JW, Roussel M, Scapini P, Umansky V, Adema GJ. Deciphering myeloid-derived suppressor cells: isolation and markers in humans, mice and non-human primates. Cancer Immunol Immunother. 2019 Apr; 68(4):687-697. PMID: 30684003.
    Citations: 50     Fields:    Translation:HumansAnimalsCells
  27. Prakash SK, San Roman AK, Crenshaw M, Flink B, Earle K, Los E, Bonnard Å, Lin AE. "Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome. Am J Med Genet C Semin Med Genet. 2019 03; 181(1):36-42. PMID: 30633443.
    Citations:    Fields:    Translation:Humans
  28. Prakash SK, Crenshaw ML, Backeljauw PF, Silberbach M, Scurlock C, Culin DD, Ranallo KC, Lin AE. 45,X mosaicism in a population-based biobank: implications for Turner syndrome. Genet Med. 2019 08; 21(8):1882-1883. PMID: 30573796.
    Citations: 1     Fields:    Translation:HumansCells
  29. Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM. Nablus syndrome: Easy to diagnose yet difficult to solve. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):447-457. PMID: 30580486.
    Citations:    Fields:    Translation:Humans
  30. Weber KA, Yang W, Carmichael SL, Lupo PJ, Dukhovny S, Yazdy MM, Lin AE, Van Bennekom CM, Mitchell AA, Shaw GM. An application of data mining to identify potential risk factors for anophthalmia and microphthalmia. Paediatr Perinat Epidemiol. 2018 11; 32(6):545-555. PMID: 30300919.
    Citations:    Fields:    Translation:HumansPHPublic Health
  31. Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. J Med Genet. 2018 12; 55(12):824-830. PMID: 30244195.
    Citations: 1     Fields:    Translation:HumansCells
  32. Jones KL, McNamara EA, Longoni M, Miller DE, Rohanizadegan M, Newman LA, Hayes F, Levitsky LL, Herrington BL, Lin AE. Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. . 2018 11; 176(11):2435-2445. PMID: 30079495.
    Citations: 2     Translation:HumansPHPublic Health
  33. Carey JC, Hennekam RCM, Lin AE, Barr M. M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018). . 2018 Aug; 176(8):1703-1705. PMID: 30055082.
    Citations:    Translation:Humans
  34. Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. . 2018 08; 176(8):1711-1722. PMID: 30055033.
    Citations: 4     Translation:Humans
  35. Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. Neurology. 2018 08 07; 91(6):e562-e570. PMID: 29980640.
    Citations: 6     Fields:    Translation:HumansCells
  36. Wooderchak-Donahue WL, Johnson P, McDonald J, Blei F, Berenstein A, Sorscher M, Mayer J, Scheuerle AE, Lewis T, Grimmer JF, Richter GT, Steeves MA, Lin AE, Stevenson DA, Bayrak-Toydemir P. Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. Eur J Hum Genet. 2018 10; 26(10):1521-1536. PMID: 29891884.
    Citations: 8     Fields:    Translation:Humans
  37. Kaadan MI, MacDonald C, Ponzini F, Duran J, Newell K, Pitler L, Lin A, Weinberg I, Wood MJ, Lindsay ME. Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection. Circ Genom Precis Med. 2018 04; 11(4):e001933. PMID: 29650765.
    Citations: 15     Fields:    Translation:Humans
  38. Toufaily MH, Westgate MN, Lin AE, Holmes LB. Causes of Congenital Malformations. Birth Defects Res. 2018 01; 110(2):87-91. PMID: 29377643.
    Citations: 6     Fields:    Translation:HumansPHPublic Health
  39. Holmes LB, Nasri H, Westgate MN, Toufaily MH, Lin AE. The Active Malformations Surveillance Program, Boston in 1972-2012: Methodology and demographic characteristics. Birth Defects Res. 2018 01; 110(2):148-156. PMID: 29377644.
    Citations: 2     Fields:    Translation:Humans
  40. McPherson E, Nestoridi E, Heinke D, Roberts DJ, Fretts R, Yazdy MM, Lin AE. Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program. Birth Defects Res. 2017 Nov 01; 109(18):1430-1441. PMID: 28898573.
    Citations: 3     Fields:    Translation:Humans
  41. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 09; 177(3):G1-G70. PMID: 28705803.
    Citations: 122     Fields:    Translation:Humans
  42. Thomas EG, Higgins C, Westgate MN, Lin AE, Anderka M, Holmes LB. Malformations Surveillance: Comparison between Findings at Birth and Age 1 Year. Birth Defects Res. 2018 01; 110(2):142-147. PMID: 28796462.
    Citations: 2     Fields:    Translation:Humans
  43. Newell K, Smith W, Ghoshhajra B, Isselbacher E, Lin A, Lindsay ME. Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. . 2017 Sep; 173(9):2551-2556. PMID: 28696036.
    Citations: 3     Translation:Humans
  44. Liberman RF, Getz KD, Heinke D, Luke B, Stern JE, Declercq ER, Chen X, Lin AE, Anderka M. Assisted Reproductive Technology and Birth Defects: Effects of Subfertility and Multiple Births. Birth Defects Res. 2017 Aug 15; 109(14):1144-1153. PMID: 28635008.
    Citations: 13     Fields:    Translation:Humans
  45. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969. PMID: 28546579.
    Citations:    Fields:    
  46. Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. . 2017 Jul; 173(7):1988-1991. PMID: 28447379.
    Citations: 1     
  47. Fisher SC, Van Zutphen AR, Werler MM, Lin AE, Romitti PA, Druschel CM, Browne ML. Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study. Hypertension. 2017 05; 69(5):798-805. PMID: 28373593.
    Citations: 12     Fields:    Translation:HumansPHPublic Health
  48. Fogerty RL, Greenwald JL, McDermott S, Lin AE, Stone JR. Case 7-2017. A 73-Year-Old Man with Confusion and Recurrent Epistaxis. N Engl J Med. 2017 03 09; 376(10):972-980. PMID: 28273029.
    Citations:    Fields:    Translation:Humans
  49. Kinane TB, Lin AE, Lahoud-Rahme M, Westra SJ, Mark EJ. Case 4-2017. A 2-Month-Old Girl with Growth Retardation and Respiratory Failure. N Engl J Med. 2017 02 09; 376(6):562-574. PMID: 28177866.
    Citations: 4     Fields:    Translation:HumansCells
  50. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248. PMID: 28067909.
    Citations: 44     Fields:    Translation:Humans
  51. Sweetser DA, Lin AE, Troulis MJ, Chen TC, Westra SJ. Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities. N Engl J Med. 2016 11 10; 375(19):1879-1890. PMID: 27959664.
    Citations: 2     Fields:    Translation:Humans
  52. Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R, Lemaire SA, Body SC, Milewicz DM. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. Am J Med Genet A. 2016 12; 170(12):3157-3164. PMID: 27604636.
    Citations: 14     Fields:    Translation:HumansCells
  53. Dawson AL, Tinker SC, Jamieson DJ, Hobbs CA, Berry RJ, Rasmussen SA, Anderka M, Keppler-Noreuil KM, Lin AE, Reefhuis J. Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007. J Epidemiol Community Health. 2016 11; 70(11):1114-1121. PMID: 27325867.
    Citations: 11     Fields:    Translation:Humans
  54. Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. . 2016 10; 170(10):2617-31. PMID: 27302097.
    Citations: 11     Translation:Humans
  55. Thomas EG, Toufaily MH, Westgate MN, Hunt AT, Lin AE, Holmes LB. Impact of elective termination on the occurrence of severe birth defects identified in a hospital-based active malformations surveillance program (1999 to 2002). Birth Defects Res A Clin Mol Teratol. 2016 Aug; 106(8):659-66. PMID: 27116560.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  56. Lin AE, Karnis MF, Calderwood L, Crenshaw M, Bhatt A, Souter I, Silberbach M, Reindollar RH. Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology. Fertil Steril. 2016 Jun; 105(6):1446-8. PMID: 26878093.
    Citations: 1     Fields:    Translation:Humans
  57. Lin AE. The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies. J Oral Maxillofac Surg. 2015 Dec; 73(12 Suppl):S13-6. PMID: 26608141.
    Citations:    Fields:    Translation:Humans
  58. Van Zutphen AR, Bell EM, Browne ML, Lin S, Lin AE, Druschel CM. Maternal asthma medication use during pregnancy and risk of congenital heart defects. Birth Defects Res A Clin Mol Teratol. 2015 Nov; 103(11):951-61. PMID: 26408052.
    Citations: 2     Fields:    Translation:HumansPHPublic Health
  59. Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet. 2015 Sep 03; 97(3):483-92. PMID: 26320891.
    Citations: 22     Fields:    Translation:HumansCells
  60. Zhu Y, Romitti PA, Caspers Conway KM, Shen DH, Sun L, Browne ML, Botto LD, Lin AE, Druschel CM. Maternal periconceptional alcohol consumption and congenital heart defects. Birth Defects Res A Clin Mol Teratol. 2015 Jul; 103(7):617-29. PMID: 26118863.
    Citations: 6     Fields:    Translation:HumansPHPublic Health
  61. Backeljauw PF, Bondy C, Chernausek SD, Cernich JT, Cole DA, Fasciano LP, Foodim J, Hawley S, Hong DS, Knickmeyer RC, Kruszka P, Lin AE, Lippe BM, Lorigan GA, Maslen CL, Mauras N, Page DC, Pemberton VL, Prakash SK, Quigley CA, Ranallo KC, Reiss AL, Sandberg DE, Scurlock C, Silberbach M. Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery. . 2015 Sep; 167A(9):1962-71. PMID: 25920614.
    Citations: 4     Translation:HumansCells
  62. Green M, Akinsami I, Lin A, Banton S, Ghosh S, Chen B, Platt M, Osunkwo I, Ofori-Acquah S, Guldberg R, Barabino G. Microarchitectural and mechanical characterization of the sickle bone. J Mech Behav Biomed Mater. 2015 Aug; 48:220-228. PMID: 25957113.
    Citations: 3     Fields:    Translation:Animals
  63. 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. . 2015 Jun; 167(6):1400-5. PMID: 25846266.
    Citations: 2     Translation:HumansCells
  64. Levitsky LL, Luria AH, Hayes FJ, Lin AE. Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 2015 Feb; 22(1):65-72. PMID: 25517026.
    Citations: 10     Fields:    Translation:Humans
  65. Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J Hum Genet. 2014 Nov; 22(11):1340. PMID: 25319387.
    Citations:    
  66. Lin AE, Prakash S, Milewicz DM. Aortic dilatation with bicuspid aortic valve. N Engl J Med. 2014 Aug 14; 371(7):683. PMID: 25119620.
    Citations:    Fields:    Translation:Humans
  67. Lin AE, Krikov S, Riehle-Colarusso T, Frías JL, Belmont J, Anderka M, Geva T, Getz KD, Botto LD. Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014 Oct; 164A(10):2581-91. PMID: 25099286.
    Citations: 39     Fields:    Translation:Humans
  68. Liberman RF, Getz KD, Lin AE, Higgins CA, Sekhavat S, Markenson GR, Anderka M. Delayed diagnosis of critical congenital heart defects: trends and associated factors. Pediatrics. 2014 Aug; 134(2):e373-81. PMID: 25070301.
    Citations: 20     Fields:    Translation:HumansPHPublic Health
  69. Mannstadt M, Lin AE, Le LP. Case records of the Massachusetts General Hospital. Case 24-2014. A 27-year-old man with severe osteoporosis and multiple bone fractures. N Engl J Med. 2014 Jul 31; 371(5):465-72. PMID: 25075839.
    Citations: 2     Fields:    Translation:Humans
  70. Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar; 23(3):292-301. PMID: 25052316.
    Citations: 34     Fields:    Translation:Humans
  71. Pier DB, Nunes FP, Plotkin SR, Stemmer-Rachamimov AO, Kim JC, Shih HA, Brastianos P, Lin AE. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome. Eur J Med Genet. 2014 May-Jun; 57(6):269-74. PMID: 24675142.
    Citations: 2     Fields:    Translation:Humans
  72. Mi Y, Lin A, Fiete D, Steirer L, Baenziger JU. Modulation of mannose and asialoglycoprotein receptor expression determines glycoprotein hormone half-life at critical points in the reproductive cycle. J Biol Chem. 2014 Apr 25; 289(17):12157-12167. PMID: 24619407.
    Citations: 12     Fields:    Translation:AnimalsCells
  73. Kancherla V, Romitti PA, Sun L, Carey JC, Burns TL, Siega-Riz AM, Druschel CM, Lin AE, Olney RS. Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007. Eur J Med Genet. 2014 Apr; 57(5):220-9. PMID: 24576610.
    Citations: 2     Fields:    Translation:Humans
  74. Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J Hum Genet. 2014 Nov; 22(11):1272-7. PMID: 24424121.
    Citations: 12     Fields:    Translation:Humans
  75. Vadnais ML, Aghajanian HK, Lin A, Gerton GL. Signaling in sperm: toward a molecular understanding of the acquisition of sperm motility in the mouse epididymis. Biol Reprod. 2013 Nov; 89(5):127. PMID: 24006282.
    Citations: 12     Fields:    Translation:AnimalsCells
  76. Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med. 2014 Jun; 16(6):448-59. PMID: 24232412.
    Citations: 8     Fields:    Translation:HumansCells
  77. Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. . 2013 Nov; 161A(11):2762-76. PMID: 24123776.
    Citations: 17     Translation:Humans
  78. Derrington TM, Kotelchuck M, Plummer K, Cabral H, Lin AE, Belanoff C, Shin M, Correa A, Grosse SD. Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome. Res Dev Disabil. 2013 Oct; 34(10):3276-87. PMID: 23892874.
    Citations: 6     Fields:    Translation:Humans
  79. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63. PMID: 23632792.
    Citations: 21     Fields:    Translation:HumansCells
  80. Toriello HV, Erick M, Alessandri JL, Bailey D, Brunetti-Pierri N, Cox H, Fryer A, Marty D, McCurdy C, Mulliken JB, Murphy H, Omlor J, Pauli RM, Ranells JD, Sanchez-Valle A, Tobiasz A, Van Maldergem L, Lin AE. Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A. 2013 Mar; 161A(3):417-29. PMID: 23404932.
    Citations: 4     Fields:    Translation:Humans
  81. Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. J Med Genet. 2013 Mar; 50(3):174-86. PMID: 23315542.
    Citations: 14     Fields:    Translation:Humans
  82. Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013 Jan; 161A(1):185-91. PMID: 23239472.
    Citations: 12     Fields:    Translation:HumansCells
  83. Mai CT, Riehle-Colarusso T, O'Halloran A, Cragan JD, Olney RS, Lin A, Feldkamp M, Botto LD, Rickard R, Anderka M, Ethen M, Stanton C, Ehrhardt J, Canfield M. Selected birth defects data from population-based birth defects surveillance programs in the United States, 2005–2009: Featuring critical congenital heart defects targeted for pulse oximetry screening. Birth Defects Res A Clin Mol Teratol. 2012 Dec; 94(12):970-83. PMID: 24083317.
    Citations: 17     Fields:    Translation:HumansPHPublic Health
  84. Patel SS, Burns TL, Botto LD, Riehle-Colarusso TJ, Lin AE, Shaw GM, Romitti PA. Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005. Am J Med Genet A. 2012 Oct; 158A(10):2447-55. PMID: 22903798.
    Citations: 16     Fields:    Translation:HumansPHPublic Health
  85. Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40. PMID: 22729224.
    Citations: 244     Fields:    Translation:Humans
  86. Gripp KW, Lin AE. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Genet Med. 2012 Mar; 14(3):285-92. PMID: 22261753.
    Citations: 43     Fields:    Translation:Humans
  87. Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE. Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. . 2011 Sep; 155A(9):2105-11. PMID: 21834047.
    Citations: 9     Translation:Humans
  88. Newton-Cheh C, Lin AE, Baggish AL, Wang H. Case records of the Massachusetts General Hospital. Case 11-2011. A 47-year-old man with systemic lupus erythematosus and heart failure. N Engl J Med. 2011 Apr 14; 364(15):1450-60. PMID: 21488768.
    Citations: 7     Fields:    Translation:Humans
  89. Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE. An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. . 2011 Apr; 155A(4):748-56. PMID: 21594997.
    Citations: 11     Translation:Humans
  90. Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A. 2011 Apr; 155A(4):706-16. PMID: 21438134.
    Citations: 23     Fields:    Translation:Humans
  91. Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. . 2011 Mar; 155A(3):486-507. PMID: 21344638.
    Citations: 36     Translation:HumansCells
  92. Hartman RJ, Riehle-Colarusso T, Lin A, Frías JL, Patel SS, Duwe K, Correa A, Rasmussen SA. Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005. . 2011 Mar; 155A(3):555-64. PMID: 21337694.
    Citations: 8     Translation:Humans
  93. Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. Genotype-phenotype analysis of the branchio-oculo-facial syndrome. . 2011 Jan; 155A(1):22-32. PMID: 21204207.
    Citations: 21     Translation:HumansCells
  94. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54. PMID: 20672375.
    Citations: 38     Fields:    Translation:Humans
  95. Jagannath AD, Rastogi U, Spooner AE, Lin AE, Agnihotri AK. Aortic dissection and moyamoya disease in Turner syndrome. . 2010 Aug; 152A(8):2085-9. PMID: 20635402.
    Citations: 5     Translation:Humans
  96. Lin A, Mahle WT, Frias PA, Fischbach PS, Kogon BE, Kanter KR, Kirshbom PM. Early and delayed atrioventricular conduction block after routine surgery for congenital heart disease. J Thorac Cardiovasc Surg. 2010 Jul; 140(1):158-60. PMID: 20381087.
    Citations: 17     Fields:    Translation:Humans
  97. Hopkins E, Lin AE, Krepkovich KE, Axelrad ME, Sol-Church K, Stabley DL, Hossain J, Gripp KW. Living with Costello syndrome: quality of life issues in older individuals. . 2010 Jan; 152A(1):84-90. PMID: 20034064.
    Citations: 4     Translation:Humans
  98. Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010 Jan; 152A(1):4-24. PMID: 20014119.
    Citations: 35     Fields:    Translation:HumansCells
  99. Lin AE, O'Brien B, Demmer LA, Almeda KK, Blanco CL, Glasow PF, Berul CI, Hamilton R, Micheil Innes A, Lauzon JL, Sol-Church K, Gripp KW. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. Prenat Diagn. 2009 Jul; 29(7):682-90. PMID: 19382114.
    Citations: 11     Fields:    Translation:Humans
  100. Browne ML, Rasmussen SA, Hoyt AT, Waller DK, Druschel CM, Caton AR, Canfield MA, Lin AE, Carmichael SL, Romitti PA. Maternal thyroid disease, thyroid medication use, and selected birth defects in the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2009 Jul; 85(7):621-8. PMID: 19215015.
    Citations: 10     Fields:    Translation:HumansPHPublic Health
  101. Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA. Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature. . 2009 Jun; 149A(6):1241-8. PMID: 19441125.
    Citations: 39     Translation:Humans
  102. Caton AR, Bell EM, Druschel CM, Werler MM, Lin AE, Browne ML, McNutt LA, Romitti PA, Mitchell AA, Olney RS, Correa A. Antihypertensive medication use during pregnancy and the risk of cardiovascular malformations. Hypertension. 2009 Jul; 54(1):63-70. PMID: 19433779.
    Citations: 39     Fields:    Translation:Humans
  103. Lin AE, Yuzuriha S, McLean S, Mulliken JB. Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. J Craniofac Surg. 2009 Mar; 20 Suppl 1:608-11. PMID: 19795528.
    Citations: 3     Fields:    Translation:Humans
  104. Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, Nicholson L, Gripp KW. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Am J Med Genet A. 2009 Mar; 149A(3):315-21. PMID: 19206176.
    Citations: 17     Fields:    Translation:Humans
  105. Lin AE, Rasmussen SA, Scheuerle A, Stevenson RE. Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles. Birth Defects Res A Clin Mol Teratol. 2009 Jan; 85(1):69-75. PMID: 19107957.
    Citations: 3     Fields:    Translation:HumansPHPublic Health
  106. Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med. 2008 Jul; 10(7):469-94. PMID: 18580689.
    Citations: 22     Fields:    Translation:HumansCells
  107. Lopez L, Arheart KL, Colan SD, Stein NS, Lopez-Mitnik G, Lin AE, Reller MD, Ventura R, Silberbach M. Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics. 2008 Jun; 121(6):e1622-7. PMID: 18504294.
    Citations: 27     Fields:    Translation:Humans
  108. Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May; 82(5):1171-7. PMID: 18423521.
    Citations: 82     Fields:    Translation:HumansCells
  109. Kerr B, Allanson J, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA. The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. . 2008 May 01; 146A(9):1218-20. PMID: 18386799.
    Citations: 7     Translation:HumansCells
  110. Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L. Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. . 2008 May 01; 146A(9):1205-17. PMID: 18412122.
    Citations: 7     Translation:Humans
  111. Lin AE, Rauen KA, Gripp KW, Carey JC. Clarification of previously reported Costello syndrome patients. . 2008 Apr 01; 146A(7):940-3. PMID: 18302240.
    Citations: 2     Translation:Humans
  112. Slavotinek AM, Warmerdam B, Lin AE, Shaw GM. Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. . 2007 Dec 15; 143A(24):3127-36. PMID: 18008313.
    Citations: 8     Translation:Humans
  113. Botto LD, Lin AE, Riehle-Colarusso T, Malik S, Correa A. Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res A Clin Mol Teratol. 2007 Oct; 79(10):714-27. PMID: 17729292.
    Citations: 142     Fields:    Translation:Humans
  114. Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. . 2007 Jul 01; 143A(13):1472-80. PMID: 17551924.
    Citations: 24     Translation:Humans
  115. Browne ML, Bell EM, Druschel CM, Gensburg LJ, Mitchell AA, Lin AE, Romitti PA, Correa A. Maternal caffeine consumption and risk of cardiovascular malformations. Birth Defects Res A Clin Mol Teratol. 2007 Jul; 79(7):533-43. PMID: 17405163.
    Citations: 10     Fields:    Translation:Humans
  116. Louik C, Lin AE, Werler MM, Hernández-Díaz S, Mitchell AA. First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects. N Engl J Med. 2007 Jun 28; 356(26):2675-83. PMID: 17596601.
    Citations: 131     Fields:    Translation:Humans
  117. Lin AE, Silberbach M. Focus on the heart and aorta in Turner syndrome. J Pediatr. 2007 Jun; 150(6):572-4. PMID: 17517233.
    Citations: 3     Fields:    Translation:Humans
  118. Lin AE, Pober BR, Adatia I. Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management. Am J Med Genet C Semin Med Genet. 2007 May 15; 145C(2):201-16. PMID: 17436301.
    Citations: 12     Fields:    Translation:HumansAnimals
  119. Lin AE, Forrester MB, Cunniff C, Higgins CA, Anderka M. Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention Network. Birth Defects Res A Clin Mol Teratol. 2006 Nov; 76(11):781-6. PMID: 17051528.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  120. Lin AE. Writing for scientific publication: tips for getting started. Clin Pediatr (Phila). 2006 May; 45(4):295-300. PMID: 16703152.
    Citations: 1     Fields:    Translation:Humans
  121. Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. . 2006 Jan 01; 140(1):1-7. PMID: 16329078.
    Citations: 57     Translation:Humans
  122. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14. PMID: 16400610.
    Citations: 111     Fields:    Translation:HumansAnimalsCells
  123. Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? . 2005 Dec 15; 139(3):186-93. PMID: 16283673.
    Citations: 12     Translation:Humans
  124. Pober BR, Lin A, Russell M, Ackerman KG, Chakravorty S, Strauss B, Westgate MN, Wilson J, Donahoe PK, Holmes LB. Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. . 2005 Oct 01; 138A(2):81-8. PMID: 16094667.
    Citations: 28     Translation:Humans
  125. Lin A, Ardinger HH, Pierpont ME. Classification of cardiovascular malformations associated with neuroblastoma. J Pediatr. 2005 Mar; 146(3):439-41; author reply 441-3. PMID: 15756248.
    Citations:    Fields:    Translation:Humans
  126. 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.
    Citations: 76     Fields:    Translation:HumansCells
  127. Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, Weksberg R, Klüppel M, Lin AE. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. . 2005 Feb 15; 133A(1):1-12. PMID: 15637729.
    Citations: 15     Translation:Humans
  128. Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki syndrome in 48 well-defined new individuals. . 2005 Jan 30; 132A(3):265-72. PMID: 15690370.
    Citations: 26     Translation:HumansCells
  129. Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. . 2005 Jan 15; 132A(2):226-30. PMID: 15580636.
    Citations: 1     Translation:Humans
  130. Lin AE, Salbert BA, Belmont J, Smoot L. Total is more than the sum of the parts: phenotyping the heart in cardiovascular genetics clinics. . 2004 Dec 01; 131(2):111-4. PMID: 15487010.
    Citations: 4     Translation:Humans
  131. Lin AE, Peller AJ, Westgate MN, Houde K, Franz A, Holmes LB. Clonazepam use in pregnancy and the risk of malformations. Birth Defects Res A Clin Mol Teratol. 2004 Aug; 70(8):534-6. PMID: 15329832.
    Citations: 10     Fields:    Translation:Humans
  132. Haverty CE, Lin AE, Simpson E, Spence MA, Martin RA. 47,XXX associated with malformations. . 2004 Feb 15; 125A(1):108-11; author reply 112. PMID: 14755479.
    Citations: 5     Translation:HumansCells
  133. Lin A, Harding C, Silberbach M. Hand it to the skin in Costello syndrome. J Pediatr. 2004 Jan; 144(1):135. PMID: 14722534.
    Citations: 1     Fields:    Translation:Humans
  134. Graham JM, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. . 2003 Nov 15; 123A(1):37-44. PMID: 14556245.
    Citations: 10     Translation:HumansCells
  135. Lin AE, Terry SF, Lerner B, Anderson R, Irons M. Participation by clinical geneticists in genetic advocacy groups. . 2003 May 15; 119A(1):89-92. PMID: 12707968.
    Citations: 3     Translation:Humans
  136. Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. . 2003 Apr 30; 118A(3):260-6. PMID: 12673657.
    Citations: 6     Translation:HumansCells
  137. Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA. Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2003 Mar; 67(3):193-201. PMID: 12797461.
    Citations: 195     Fields:    Translation:HumansPHPublic Health
  138. Huang T, Lin AE, Cox GF, Golden WL, Feldman GL, Ute M, Schrander-Stumpel C, Kamisago M, Vermeulen SJ. Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. Genet Med. 2002 Nov-Dec; 4(6):464-7. PMID: 12509719.
    Citations: 10     Fields:    Translation:HumansCells
  139. Lin AE. O patient, where art thou? Am J Med Genet. 2002 Aug 15; 111(3):334. PMID: 12210334.
    Citations:    Fields:    Translation:Humans
  140. Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, Nicholson L. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29. PMID: 12210337.
    Citations: 21     Fields:    Translation:Humans
  141. Lin AE. The heart of Turner syndrome: small matters. Teratology. 2002 Aug; 66(2):63-4. PMID: 12210008.
    Citations:    Fields:    Translation:Humans
  142. Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE, McManus B, Korf BR. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med. 2002 May-Jun; 4(3):105-11. PMID: 12180143.
    Citations: 84     Fields:    Translation:Humans
  143. Gripp KW, Scott CI, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002 Feb 15; 108(1):80-7. PMID: 11857556.
    Citations: 30     Fields:    Translation:HumansPHPublic Health
  144. Lin AE, Wheeler PG, Smith R. Grebe syndrome in Vietnamese sisters: not Agent Orange. Clin Genet. 2001 Jan; 59(1):25-7. PMID: 11168021.
    Citations: 1     Fields:    Translation:Humans
  145. Lin AE, Liu Q, Mannheim GB, Darras BT. Exclusion of growth factor gene mutations as a common cause of Sotos syndrome. Am J Med Genet. 2001 Jan 01; 98(1):101-2. PMID: 11426446.
    Citations:    Fields:    Translation:Humans
  146. Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet. 2000 Nov 13; 95(2):108-17. PMID: 11078559.
    Citations: 55     Fields:    Translation:Humans
  147. Lin AE, Ticho BS, Houde K, Westgate MN, Holmes LB. Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet Med. 2000 May-Jun; 2(3):157-72. PMID: 11256661.
    Citations: 35     Fields:    Translation:Humans
  148. Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJ, Rosenbaum K, Weaver DD, Murray JC. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet. 2000 Apr 24; 91(5):387-90. PMID: 10767004.
    Citations: 4     Fields:    Translation:Humans
  149. Pierpont ME, Markwald RR, Lin AE. Genetic aspects of atrioventricular septal defects. Am J Med Genet. 2000; 97(4):289-96. PMID: 11376440.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  150. Lin AE, Pierpont ME. Heart development and the genetic aspects of cardiovascular malformations. Am J Med Genet. 2000; 97(4):235-7. PMID: 11376434.
    Citations: 1     Fields:    Translation:HumansAnimals
  151. Lin AE. Using birth defects epidemiology to take CHARGE. Coloboma, Heart defect, choanal Atresia, Retardation, Genital, Ear anomaly. Teratology. 1999 Dec; 60(6):332-3. PMID: 10590393.
    Citations:    Fields:    Translation:Humans
  152. Lin AE, Genest DR, Brown DL. Circumferential abdominal skin defect possibly due to umbilical cord encirclement. Teratology. 1999 Nov; 60(5):258-9. PMID: 10525202.
    Citations:    Fields:    Translation:Humans
  153. Lin AE, Herring AH, Amstutz KS, Westgate MN, Lacro RV, Al-Jufan M, Ryan L, Holmes LB. Cardiovascular malformations: changes in prevalence and birth status, 1972-1990. Am J Med Genet. 1999 May 21; 84(2):102-10. PMID: 10323733.
    Citations: 7     Fields:    Translation:Humans
  154. Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. Am J Med Genet. 1999 Apr 23; 83(5):378-81. PMID: 10232747.
    Citations: 13     Fields:    Translation:Humans
  155. Lin AE. I heartily praise the first issue of Genetics in Medicine for its immediate applicability to clinical genetic practice. Genet Med. 1999 Mar-Apr; 1(3):118. PMID: 11336451.
    Citations:    Fields:    Translation:Humans
  156. Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB. Adams-Oliver syndrome associated with cardiovascular malformations. Clin Dysmorphol. 1998 Oct; 7(4):235-41. PMID: 9823488.
    Citations: 5     Fields:    Translation:Humans
  157. Lin AE, Lippe B, Rosenfeld RG. Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatrics. 1998 Jul; 102(1):e12. PMID: 9651464.
    Citations: 27     Fields:    Translation:HumansPHPublic Health
  158. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998 Mar; 37(3):159-73. PMID: 9545604.
    Citations: 105     Fields:    Translation:Humans
  159. Lin AE, Ardinger HH, Ardinger RH, Cunniff C, Kelley RI. Cardiovascular malformations in Smith-Lemli-Opitz syndrome. Am J Med Genet. 1997 Jan 31; 68(3):270-8. PMID: 9024558.
    Citations: 14     Fields:    Translation:Humans
  160. Haddad BR, Lin AE, Wyandt H, Milunsky A. Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet. 1996 Dec; 33(12):1045-7. PMID: 9004142.
    Citations: 15     Fields:    Translation:HumansCells
  161. Schwartz ML, Cox GF, Lin AE, Korson MS, Perez-Atayde A, Lacro RV, Lipshultz SE. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996 Oct 15; 94(8):2021-38. PMID: 8873681.
    Citations: 16     Fields:    Translation:Humans
  162. Rosti L, Lin AE, Frigiola A. Neuroblastoma and congenital cardiovascular malformations. Pediatrics. 1996 Feb; 97(2):258-61. PMID: 8584390.
    Citations: 6     Fields:    Translation:Humans
  163. Ramer JC, Lin AE, Dobyns WB, Winter R, Aymé S, Pallotta R, Ladda RL. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995 Jul 03; 57(3):403-9. PMID: 7545868.
    Citations: 8     Fields:    Translation:HumansCells
  164. Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet. 1995 Mar 13; 56(1):42-59. PMID: 7747785.
    Citations: 11     Fields:    Translation:Humans
  165. Feingold M, Lin AE. Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature. Am J Med Genet. 1993 Nov 15; 47(7):1064-7. PMID: 8291524.
    Citations: 4     Fields:    Translation:Humans
  166. Feingold M, Frias J, Lin AE, Schaefer GB, Horwitz M. Telediagnostic conferencing. Am J Dis Child. 1993 Nov; 147(11):1196. PMID: 8237914.
    Citations:    Fields:    Translation:Humans
  167. Lin AE. Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. Am J Med Genet. 1993 Jun 15; 46(5):606-7. PMID: 8322829.
    Citations:    Fields:    Translation:HumansCells
  168. Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ. Further delineation of the Baller-Gerold syndrome. Am J Med Genet. 1993 Feb 15; 45(4):519-24. PMID: 8465861.
    Citations: 6     Fields:    Translation:Humans
  169. Lin AE, Doherty R, Lea D. Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. Clin Genet. 1992 Apr; 41(4):221-3. PMID: 1576761.
    Citations: 2     Fields:    Translation:Humans
  170. Aylsworth AS, Lin AE, Friedman PA. Nager acrofacial dysostosis: male-to-male transmission in 2 families. Am J Med Genet. 1991 Oct 01; 41(1):83-8. PMID: 1951468.
    Citations: 7     Fields:    Translation:Humans
  171. Lin AE. Comments on "fetal coronary thrombosis and myocardial infarction ". Teratology. 1991 Sep; 44(3):237, 239. PMID: 1948761.
    Citations:    Fields:    Translation:Humans
  172. Lin AE, Losken HW, Jaffe R, Biglan AW. The branchio-oculo-facial syndrome. Cleft Palate Craniofac J. 1991 Jan; 28(1):96-102. PMID: 2004100.
    Citations: 4     Fields:    Translation:Humans
  173. Lin AE, Siebert JR, Graham JM. Central nervous system malformations in the CHARGE association. Am J Med Genet. 1990 Nov; 37(3):304-10. PMID: 2260555.
    Citations: 24     Fields:    Translation:Humans
  174. Lin AE. Congenital heart defects in malformation syndromes. Clin Perinatol. 1990 Sep; 17(3):641-73. PMID: 2225691.
    Citations: 1     Fields:    Translation:Humans
  175. Lin AE, Gettig E. Craniosynostosis, agenesis of the corpus callosum, serve mental retardation, distinctive facies, camptodactyly, and hypogonadism. Am J Med Genet. 1990 Apr; 35(4):582-5. PMID: 2333890.
    Citations:    Fields:    Translation:Humans
  176. Lin AE, Clemens M, Garver KL, Wenger SL, Steele MW. Case of Pallister-Killian syndrome with imperforate anus. Am J Med Genet. 1988 Nov; 31(3):705-7. PMID: 3228152.
    Citations: 2     Fields:    Translation:Humans
  177. Lin AE, Garver KL, Diggans G, Clemens M, Wenger SL, Steele MW, Jones MC, Israel J. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. Am J Med Genet. 1988 Nov; 31(3):533-48. PMID: 3067575.
    Citations: 25     Fields:    Translation:HumansCells
  178. Lin AE, Garver KL. Monozygotic Turner syndrome twins--correlation of phenotype severity and heart defect. Am J Med Genet. 1988 Mar; 29(3):529-31. PMID: 3376996.
    Citations:    Fields:    Translation:HumansCells
  179. Lin AE, Garver KL, Allanson J. Aortic-root dilatation in Noonan's syndrome. N Engl J Med. 1987 Dec 24; 317(26):1668-9. PMID: 3683507.
    Citations: 4     Fields:    Translation:Humans
  180. Lin AE, Chin AJ, Devine W, Park SC, Zackai E. The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child. 1987 Sep; 141(9):1010-3. PMID: 2441595.
    Citations: 8     Fields:    Translation:Humans
  181. Lin AE, Lippe BM, Geffner ME, Gomes A, Lois JF, Barton CW, Rosenthal A, Friedman WF. Aortic dilation, dissection, and rupture in patients with Turner syndrome. J Pediatr. 1986 Nov; 109(5):820-6. PMID: 3772661.
    Citations: 20     Fields:    Translation:Humans
  182. Lin AE, Bernar J, Chin AJ, Sparkes RS, Emanuel BS, Zackai EH. Congenital heart disease in supernumerary der(22),t(11;22) syndrome. Clin Genet. 1986 Apr; 29(4):269-75. PMID: 3720005.
    Citations: 11     Fields:    Translation:HumansCells
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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.