Angel Lin

TitleAdjunct Faculty
InstitutionPhiladelphia University
DepartmentUndergraduate Programs
Address3243 School House Lane
Philadelphia PA 19144
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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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    1. Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A. 2024 May 23; e63638. PMID: 38779990.
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    2. Lucas AT, Lin AE, Cohen A, Mu?oz W, Kahle KT, Shin JH, Buch K, Sahai I, Carroll RW. Atlantoaxial instability associated with ALDH18A1 mutation. Am J Med Genet A. 2023 Sep 01. PMID: 37655511.
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    3. Alkuraya FS, Gray KJ, Prakash SK, Wojcik MH, Lin AE. Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by Deignan, et al. Genet Med. 2023 Jun 28; 100904. PMID: 37382598.
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    4. Sangadala S, Shore EM, Xu M, Bergwitz C, Lozano-Calderon SA, Lin AE, Boden SD, Kaplan FS. Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1). Am J Med Genet A. 2023 08; 191(8):2164-2174. PMID: 37218523.
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    5. Martin-Giacalone BA, Lin AE, Rasmussen SA, Kirby RS, Nestoridi E, Liberman RF, Agopian AJ, Carey JC, Cragan JD, Forestieri N, Leedom V, Boyce A, Nembhard WN, Piccardi M, Sandidge T, Shan X, Shumate CJ, Stallings EB, Stevenson R, Lupo PJ. Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network. Am J Med Genet A. 2023 05; 191(5):1339-1349. PMID: 36919524.
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    6. Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088. PMID: 35869926.
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    7. Howley MM, Williford E, Agopian AJ, Lin AE, Botto LD, Cunniff CM, Romitti PA, Nestoridi E, Browne ML. Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. Birth Defects Res. 2023 Jan 01; 115(1):43-55. PMID: 35277952.
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    8. Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395. PMID: 35025139.
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    9. 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.
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    10. 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.
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    11. 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.
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    12. 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.
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    13. Snyder EA, San Roman AK, Pi?a-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.
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    14. 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.
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    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.
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    16. 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.
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    17. 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.
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    18. 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.
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    19. 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. Am J Med Genet A. 2019 10; 179(10):1987-2033. PMID: 31418527.
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    20. 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.
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    21. 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, Gr?nborg S, Mercier S, K?ry S, B?zieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, D?sir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, L?pez-Ot?n C, Santiago-Fern?ndez O, Fern?ndez-Ja?n 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, P?rez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, G?cz J, Jolly LA. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ? Signaling. Biol Psychiatry. 2020 01 15; 87(2):100-112. PMID: 31443933.
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    22. 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.
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    23. 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.
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    24. 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.
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    25. 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.
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    26. 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. Am J Med Genet A. 2018 11; 176(11):2435-2445. PMID: 30079495.
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    27. Carey JC, Hennekam RCM, Lin AE, Barr M. M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018). Am J Med Genet A. 2018 Aug; 176(8):1703-1705. PMID: 30055082.
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    28. 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. Am J Med Genet A. 2018 08; 176(8):1711-1722. PMID: 30055033.
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    29. 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, T?pf A, Straub V, Kapetanovic Garc?a 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.
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    30. 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.
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    31. 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. Am J Med Genet A. 2017 Sep; 173(9):2551-2556. PMID: 28696036.
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    32. 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. Am J Med Genet A. 2017 Jul; 173(7):1988-1991. PMID: 28447379.
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    33. 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.
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    34. 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.
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    35. 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, Garc?a-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, M?hlbauer 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.
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    36. 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.
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    37. 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. Am J Med Genet A. 2016 10; 170(10):2617-31. PMID: 27302097.
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    38. 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.
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    39. 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.
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    40. 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. Am J Med Genet A. 2015 Sep; 167A(9):1962-71. PMID: 25920614.
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    41. 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.
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    42. 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.
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    43. Lin AE, Krikov S, Riehle-Colarusso T, Fr?as 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.
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    44. 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, Louren?o 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, Rivi?re 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.
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    45. 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.
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    46. 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.
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    47. 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.
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    48. 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. Am J Med Genet A. 2013 Nov; 161A(11):2762-76. PMID: 24123776.
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    49. 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.
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    50. 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.
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    51. 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, Garc?a-Mi?a?r 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.
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    52. 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.
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    53. 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.
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    54. Rivi?re 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:    
    55. 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:    
    56. 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. Am J Med Genet A. 2011 Sep; 155A(9):2105-11. PMID: 21834047.
      Citations:    
    57. 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:    
    58. Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE. An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. Am J Med Genet A. 2011 Apr; 155A(4):748-56. PMID: 21594997.
      Citations:    
    59. 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. Am J Med Genet A. 2011 Mar; 155A(3):486-507. PMID: 21344638.
      Citations:    
    60. Hartman RJ, Riehle-Colarusso T, Lin A, Fr?as 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. Am J Med Genet A. 2011 Mar; 155A(3):555-64. PMID: 21337694.
      Citations:    
    61. Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Ch?nier 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. Am J Med Genet A. 2011 Jan; 155A(1):22-32. PMID: 21204207.
      Citations:    
    62. 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:    
    63. Jagannath AD, Rastogi U, Spooner AE, Lin AE, Agnihotri AK. Aortic dissection and moyamoya disease in Turner syndrome. Am J Med Genet A. 2010 Aug; 152A(8):2085-9. PMID: 20635402.
      Citations:    
    64. 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:    
    65. 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. Am J Med Genet A. 2010 Jan; 152A(1):84-90. PMID: 20034064.
      Citations:    
    66. 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:    
    67. 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:    
    68. 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:    
    69. 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. Am J Med Genet A. 2009 Jun; 149A(6):1241-8. PMID: 19441125.
      Citations:    
    70. 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:    
    71. 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:    
    72. 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:    
    73. 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. Am J Med Genet A. 2008 May 01; 146A(9):1218-20. PMID: 18386799.
      Citations:    
    74. 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. Am J Med Genet A. 2008 May 01; 146A(9):1205-17. PMID: 18412122.
      Citations:    
    75. Lin AE, Rauen KA, Gripp KW, Carey JC. Clarification of previously reported Costello syndrome patients. Am J Med Genet A. 2008 Apr 01; 146A(7):940-3. PMID: 18302240.
      Citations:    
    76. 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. Am J Med Genet A. 2007 Dec 15; 143A(24):3127-36. PMID: 18008313.
      Citations:    
    77. 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. Am J Med Genet A. 2007 Jul 01; 143A(13):1472-80. PMID: 17551924.
      Citations:    
    78. Lin AE. Writing for scientific publication: tips for getting started. Clin Pediatr (Phila). 2006 May; 45(4):295-300. PMID: 16703152.
      Citations:    
    79. 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. Am J Med Genet A. 2006 Jan 01; 140(1):1-7. PMID: 16329078.
      Citations:    
    80. 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:    
    81. Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005 Dec 15; 139(3):186-93. PMID: 16283673.
      Citations:    
    82. 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. Am J Med Genet A. 2005 Oct 01; 138A(2):81-8. PMID: 16094667.
      Citations:    
    83. 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:    
    84. 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:    
    85. Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, Weksberg R, Kl?ppel M, Lin AE. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. Am J Med Genet A. 2005 Feb 15; 133A(1):1-12. PMID: 15637729.
      Citations:    
    86. 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. Am J Med Genet A. 2005 Jan 30; 132A(3):265-72. PMID: 15690370.
      Citations:    
    87. Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30. PMID: 15580636.
      Citations:    
    88. Lin AE, Salbert BA, Belmont J, Smoot L. Total is more than the sum of the parts: phenotyping the heart in cardiovascular genetics clinics. Am J Med Genet A. 2004 Dec 01; 131(2):111-4. PMID: 15487010.
      Citations:    
    89. Haverty CE, Lin AE, Simpson E, Spence MA, Martin RA. 47,XXX associated with malformations. Am J Med Genet A. 2004 Feb 15; 125A(1):108-11; author reply 112. PMID: 14755479.
      Citations:    
    90. 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. Am J Med Genet A. 2003 Nov 15; 123A(1):37-44. PMID: 14556245.
      Citations:    
    91. Lin AE, Terry SF, Lerner B, Anderson R, Irons M. Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet A. 2003 May 15; 119A(1):89-92. PMID: 12707968.
      Citations:    
    92. 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. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6. PMID: 12673657.
      Citations:    
    93. 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:    
    94. Lin AE. O patient, where art thou? Am J Med Genet. 2002 Aug 15; 111(3):334. PMID: 12210334.
      Citations:    
    95. 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:    
    96. 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:    
    97. 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:    
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