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Items: 1 to 50 of 229

1.

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.

Jafri RZ, McNamara EA, Snyder EA, Shah U, Singh I, Hayes FJ, Lin AE, Levitsky LL.

Horm Res Paediatr. 2019 Sep 27:1-7. doi: 10.1159/000502842. [Epub ahead of print]

PMID:
31563903
2.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

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; Undiagnosed Diseases Network, 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 Jr, 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.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
3.

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.

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.

Am J Med Genet A. 2019 Oct;179(10):1987-2033. doi: 10.1002/ajmg.a.61310. Epub 2019 Aug 16.

PMID:
31418527
4.

Clonal Hematopoiesis: Crossroads of Aging, Cardiovascular Disease, and Cancer: JACC Review Topic of the Week.

Libby P, Sidlow R, Lin AE, Gupta D, Jones LW, Moslehi J, Zeiher A, Jaiswal S, Schulz C, Blankstein R, Bolton KL, Steensma D, Levine RL, Ebert BL.

J Am Coll Cardiol. 2019 Jul 30;74(4):567-577. doi: 10.1016/j.jacc.2019.06.007. Review.

PMID:
31345432
5.

Cardiac transplantation in children with Noonan syndrome.

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.

Pediatr Transplant. 2019 Sep;23(6):e13535. doi: 10.1111/petr.13535. Epub 2019 Jul 1.

PMID:
31259454
6.

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

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.

Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20.

PMID:
31222966
7.

Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011.

Downing KF, Riehle-Colarusso T, Gilboa SM, Lin AE, Oster ME, Tinker SC, Farr SL; National Birth Defects Prevention Study.

Cardiol Young. 2019 Jun;29(6):819-827. doi: 10.1017/S1047951119000970. Epub 2019 Jun 4.

PMID:
31159903
8.

Augmentation of Urinary Lactoferrin Enhances Host Innate Immune Clearance of Uropathogenic Escherichia coli.

Patras KA, Ha AD, Rooholfada E, Olson J, Ramachandra Rao SP, Lin AE, Nizet V.

J Innate Immun. 2019;11(6):481-495. doi: 10.1159/000499342. Epub 2019 May 3.

9.

Capturing sequence diversity in metagenomes with comprehensive and scalable probe design.

Metsky HC, Siddle KJ, Gladden-Young A, Qu J, Yang DK, Brehio P, Goldfarb A, Piantadosi A, Wohl S, Carter A, Lin AE, Barnes KG, Tully DC, Corleis B, Hennigan S, Barbosa-Lima G, Vieira YR, Paul LM, Tan AL, Garcia KF, Parham LA, Odia I, Eromon P, Folarin OA, Goba A; Viral Hemorrhagic Fever Consortium, Simon-Lorière E, Hensley L, Balmaseda A, Harris E, Kwon DS, Allen TM, Runstadler JA, Smole S, Bozza FA, Souza TML, Isern S, Michael SF, Lorenzana I, Gehrke L, Bosch I, Ebel G, Grant DS, Happi CT, Park DJ, Gnirke A, Sabeti PC, Matranga CB.

Nat Biotechnol. 2019 Feb;37(2):160-168. doi: 10.1038/s41587-018-0006-x. Epub 2019 Feb 4.

10.

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.

Prakash SK, San Roman AK, Crenshaw M, Flink B, Earle K, Los E, Bonnard Å, Lin AE.

Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):36-42. doi: 10.1002/ajmg.c.31671. Epub 2019 Jan 11. Review.

11.

Nablus syndrome: Easy to diagnose yet difficult to solve.

Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660. Review.

PMID:
30580486
12.

Rapid Identification of Functional Pyrrolysyl-tRNA Synthetases via Fluorescence-Activated Cell Sorting.

Lin AE, Lin Q.

Int J Mol Sci. 2018 Dec 21;20(1). pii: E29. doi: 10.3390/ijms20010029.

13.

45,X mosaicism in a population-based biobank: implications for Turner syndrome.

Prakash SK, Crenshaw ML, Backeljauw PF, Silberbach M, Scurlock C, Culin DD, Ranallo KC, Lin AE.

Genet Med. 2019 Aug;21(8):1882-1883. doi: 10.1038/s41436-018-0411-z. Epub 2018 Dec 21. No abstract available.

PMID:
30573796
14.

CHIPping Away at the Pathogenesis of Heart Failure.

Libby P, Jaiswal S, Lin AE, Ebert BL.

JAMA Cardiol. 2019 Jan 1;4(1):5-6. doi: 10.1001/jamacardio.2018.4039. No abstract available.

PMID:
30566187
15.

An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.

Weber KA, Yang W, Carmichael SL, Lupo PJ, Dukhovny S, Yazdy MM, Lin AE, Van Bennekom CM, Mitchell AA, Shaw GM; National Birth Defects Prevention Study.

Paediatr Perinat Epidemiol. 2018 Nov;32(6):545-555. doi: 10.1111/ppe.12509. Epub 2018 Oct 9.

PMID:
30300919
16.

Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.

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.

J Med Genet. 2018 Dec;55(12):824-830. doi: 10.1136/jmedgenet-2018-105561. Epub 2018 Sep 22.

PMID:
30244195
17.

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Jones KL, McNamara EA, Longoni M, Miller DE, Rohanizadegan M, Newman LA, Hayes F, Levitsky LL, Herrington BL, Lin AE.

Am J Med Genet A. 2018 Nov;176(11):2435-2445. doi: 10.1002/ajmg.a.40470. Epub 2018 Aug 6.

18.

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Carey JC, Hennekam RCM, Lin AE, Barr M Jr.

Am J Med Genet A. 2018 Aug;176(8):1703-1705. doi: 10.1002/ajmg.a.38845. Epub 2018 Jul 28. No abstract available.

19.

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.

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.

Am J Med Genet A. 2018 Aug;176(8):1711-1722. doi: 10.1002/ajmg.a.38854. Epub 2018 Jul 28.

20.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, 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.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

21.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.

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.

Eur J Hum Genet. 2018 Oct;26(10):1521-1536. doi: 10.1038/s41431-018-0196-1. Epub 2018 Jun 11.

22.

Field validation of recombinant antigen immunoassays for diagnosis of Lassa fever.

Boisen ML, Hartnett JN, Shaffer JG, Goba A, Momoh M, Sandi JD, Fullah M, Nelson DKS, Bush DJ, Rowland MM, Heinrich ML, Koval AP, Cross RW, Barnes KG, Lachenauer AE, Lin AE, Nekoui M, Kotliar D, Winnicki SM, Siddle KJ, Gbakie M, Fonnie M, Koroma VJ, Kanneh L, Kulakosky PC, Hastie KM, Wilson RB, Andersen KG, Folarin OO, Happi CT, Sabeti PC, Geisbert TW, Saphire EO, Khan SH, Grant DS, Schieffelin JS, Branco LM, Garry RF.

Sci Rep. 2018 Apr 12;8(1):5939. doi: 10.1038/s41598-018-24246-w.

23.

Branchiooculofacial Syndrome.

Lin AE, Haldeman-Englert CR, Milunsky JM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 May 31 [updated 2018 Mar 29].

24.

The Active Malformations Surveillance Program, Boston in 1972-2012: Methodology and demographic characteristics.

Holmes LB, Nasri H, Westgate MN, Toufaily MH, Lin AE.

Birth Defects Res. 2018 Jan;110(2):148-156. doi: 10.1002/bdr2.1156.

PMID:
29377644
25.

Causes of Congenital Malformations.

Toufaily MH, Westgate MN, Lin AE, Holmes LB.

Birth Defects Res. 2018 Jan;110(2):87-91. doi: 10.1002/bdr2.1105.

PMID:
29377643
26.

Glycogen Synthase Kinase-3 Modulates Cbl-b and Constrains T Cell Activation.

Tran CW, Saibil SD, Le Bihan T, Hamilton SR, Lang KS, You H, Lin AE, Garza KM, Elford AR, Tai K, Parsons ME, Wigmore K, Vainberg MG, Penninger JM, Woodgett JR, Mak TW, Ohashi PS.

J Immunol. 2017 Dec 15;199(12):4056-4065. doi: 10.4049/jimmunol.1600396. Epub 2017 Nov 6.

27.

Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program.

McPherson E, Nestoridi E, Heinke D, Roberts DJ, Fretts R, Yazdy MM, Lin AE.

Birth Defects Res. 2017 Nov 1;109(18):1430-1441. doi: 10.1002/bdr2.1112. Epub 2017 Sep 12.

PMID:
28898573
28.

Malformations Surveillance: Comparison between Findings at Birth and Age 1 Year.

Thomas EG, Higgins C, Westgate MN, Lin AE, Anderka M, Holmes LB.

Birth Defects Res. 2018 Jan;110(2):142-147. doi: 10.1002/bdr2.1096. Epub 2017 Aug 10.

PMID:
28796462
29.

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

Sinnige PF, van Ravenswaaij-Arts CMA, Caruso P, Lin AE, Boon M, Rahikkala E, Callewaert B, Meiners LC.

Eur J Paediatr Neurol. 2017 Nov;21(6):912-920. doi: 10.1016/j.ejpn.2017.07.003. Epub 2017 Jul 18.

PMID:
28757335
30.

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

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; International Turner Syndrome Consensus Group.

Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. Review.

PMID:
28705803
31.

Assisted Reproductive Technology and Birth Defects: Effects of Subfertility and Multiple Births.

Liberman RF, Getz KD, Heinke D, Luke B, Stern JE, Declercq ER, Chen X, Lin AE, Anderka M.

Birth Defects Res. 2017 Aug 15;109(14):1144-1153. doi: 10.1002/bdr2.1055. Epub 2017 Jun 21.

32.

Evidence of Ebola Virus Replication and High Concentration in Semen of a Patient During Recovery.

Barnes KG, Kindrachuk J, Lin AE, Wohl S, Qu J, Tostenson SD, Dorman WR, Busby M, Siddle KJ, Luo CY, Matranga CB, Davey RT, Sabeti PC, Chertow DS.

Clin Infect Dis. 2017 Oct 15;65(8):1400-1403. doi: 10.1093/cid/cix518.

33.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

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 Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
34.

Zika virus evolution and spread in the Americas.

Metsky HC, Matranga CB, Wohl S, Schaffner SF, Freije CA, Winnicki SM, West K, Qu J, Baniecki ML, Gladden-Young A, Lin AE, Tomkins-Tinch CH, Ye SH, Park DJ, Luo CY, Barnes KG, Shah RR, Chak B, Barbosa-Lima G, Delatorre E, Vieira YR, Paul LM, Tan AL, Barcellona CM, Porcelli MC, Vasquez C, Cannons AC, Cone MR, Hogan KN, Kopp EW, Anzinger JJ, Garcia KF, Parham LA, Ramírez RMG, Montoya MCM, Rojas DP, Brown CM, Hennigan S, Sabina B, Scotland S, Gangavarapu K, Grubaugh ND, Oliveira G, Robles-Sikisaka R, Rambaut A, Gehrke L, Smole S, Halloran ME, Villar L, Mattar S, Lorenzana I, Cerbino-Neto J, Valim C, Degrave W, Bozza PT, Gnirke A, Andersen KG, Isern S, Michael SF, Bozza FA, Souza TML, Bosch I, Yozwiak NL, MacInnis BL, Sabeti PC.

Nature. 2017 Jun 15;546(7658):411-415. doi: 10.1038/nature22402. Epub 2017 May 24.

35.

Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.

Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE.

Am J Med Genet A. 2017 Jul;173(7):1988-1991. doi: 10.1002/ajmg.a.38203. Epub 2017 Apr 26. No abstract available.

PMID:
28447379
36.

Human milk oligosaccharides inhibit growth of group B Streptococcus.

Lin AE, Autran CA, Szyszka A, Escajadillo T, Huang M, Godula K, Prudden AR, Boons GJ, Lewis AL, Doran KS, Nizet V, Bode L.

J Biol Chem. 2017 Jul 7;292(27):11243-11249. doi: 10.1074/jbc.M117.789974. Epub 2017 Apr 17.

37.

Myhre Syndrome.

Starr LJ, Lindor NM, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Apr 13.

38.

Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study.

Fisher SC, Van Zutphen AR, Werler MM, Lin AE, Romitti PA, Druschel CM, Browne ML; National Birth Defects Prevention Study.

Hypertension. 2017 May;69(5):798-805. doi: 10.1161/HYPERTENSIONAHA.116.08773. Epub 2017 Apr 3.

PMID:
28373593
39.

Case 7-2017. A 73-Year-Old Man with Confusion and Recurrent Epistaxis.

Fogerty RL, Greenwald JL, McDermott S, Lin AE, Stone JR.

N Engl J Med. 2017 Mar 9;376(10):972-980. doi: 10.1056/NEJMcpc1613462. No abstract available.

PMID:
28273029
40.

Case 4-2017. A 2-Month-Old Girl with Growth Retardation and Respiratory Failure.

Kinane TB, Lin AE, Lahoud-Rahme M, Westra SJ, Mark EJ.

N Engl J Med. 2017 Feb 9;376(6):562-574. doi: 10.1056/NEJMcpc1613465. No abstract available.

PMID:
28177866
41.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

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 Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

42.

Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities.

Sweetser DA, Lin AE, Troulis MJ, Chen TC, Westra SJ.

N Engl J Med. 2016 Nov 10;375(19):1879-1890. No abstract available.

PMID:
27959664
43.

Ebola Virus Glycoprotein with Increased Infectivity Dominated the 2013-2016 Epidemic.

Diehl WE, Lin AE, Grubaugh ND, Carvalho LM, Kim K, Kyawe PP, McCauley SM, Donnard E, Kucukural A, McDonel P, Schaffner SF, Garber M, Rambaut A, Andersen KG, Sabeti PC, Luban J.

Cell. 2016 Nov 3;167(4):1088-1098.e6. doi: 10.1016/j.cell.2016.10.014.

44.

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R; BAVCon Investigators, GenTAC Registry Investigators, Lemaire SA, Body SC, Milewicz DM.

Am J Med Genet A. 2016 Dec;170(12):3157-3164. doi: 10.1002/ajmg.a.37953. Epub 2016 Sep 8.

45.

In vivo Ebola virus infection leads to a strong innate response in circulating immune cells.

Caballero IS, Honko AN, Gire SK, Winnicki SM, Melé M, Gerhardinger C, Lin AE, Rinn JL, Sabeti PC, Hensley LE, Connor JH.

BMC Genomics. 2016 Sep 5;17:707. doi: 10.1186/s12864-016-3060-0.

46.

Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007.

Dawson AL, Tinker SC, Jamieson DJ, Hobbs CA, Berry RJ, Rasmussen SA, Anderka M, Keppler-Noreuil KM, Lin AE, Reefhuis J; National Birth Defects Prevention Study.

J Epidemiol Community Health. 2016 Nov;70(11):1114-1121. doi: 10.1136/jech-2015-206302. Epub 2016 Jun 20.

47.

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

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.

Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Review.

PMID:
27302097
48.

Natural Product Anacardic Acid from Cashew Nut Shells Stimulates Neutrophil Extracellular Trap Production and Bactericidal Activity.

Hollands A, Corriden R, Gysler G, Dahesh S, Olson J, Raza Ali S, Kunkel MT, Lin AE, Forli S, Newton AC, Kumar GB, Nair BG, Perry JJ, Nizet V.

J Biol Chem. 2016 Jul 1;291(27):13964-73. doi: 10.1074/jbc.M115.695866. Epub 2016 May 13.

49.

Impact of elective termination on the occurrence of severe birth defects identified in a hospital-based active malformations surveillance program (1999 to 2002).

Thomas EG, Toufaily MH, Westgate MN, Hunt AT, Lin AE, Holmes LB.

Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):659-66. doi: 10.1002/bdra.23510. Epub 2016 Apr 26.

PMID:
27116560
50.

Proposal for a national registry to monitor women with Turner syndrome seeking assisted reproductive technology.

Lin AE, Karnis MF, Calderwood L, Crenshaw M, Bhatt A, Souter I, Silberbach M, Reindollar RH.

Fertil Steril. 2016 Jun;105(6):1446-8. doi: 10.1016/j.fertnstert.2016.01.042. Epub 2016 Feb 13. No abstract available.

PMID:
26878093

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