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Items: 1 to 50 of 103

1.

Clinical models of telehealth in genetics: A regional telegenetics landscape.

Terry AB, Wylie A, Raspa M, Vogel B, Sanghavi K, Djurdjinovic L, Caggana M, Bodurtha J.

J Genet Couns. 2019 Jun;28(3):673-691. doi: 10.1002/jgc4.1088. Epub 2019 Mar 2.

PMID:
30825358
2.

Genomic analyses in african populations identify novel risk loci for cleft palate.

Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gowans LJJ, Busch TD, Jain D, Yu W, Huan L, Laurie CA, Laurie CC, Nelson S, Li M, Sanchez-Lara PA, Magee WP 3rd, Magee KS, Auslander A, Brindopke F, Kay DM, Caggana M, Romitti PA, Mills JL, Audu R, Onwuamah C, Oseni GO, Owais A, James O, Olaitan PB, Aregbesola BS, Braimah RO, Oginni FO, Oladele AO, Bello SA, Rhodes J, Shiang R, Donkor P, Obiri-Yeboah S, Arthur FKN, Twumasi P, Agbenorku P, Plange-Rhule G, Oti AA, Ogunlewe OM, Oladega AA, Adekunle AA, Erinoso AO, Adamson OO, Elufowoju AA, Ayelomi OI, Hailu T, Hailu A, Demissie Y, Derebew M, Eliason S, Romero-Bustillous M, Lo C, Park J, Desai S, Mohammed M, Abate F, Abdur-Rahman LO, Anand D, Saadi I, Oladugba AV, Lachke SA, Amendt BA, Rotimi CN, Marazita ML, Cornell RA, Murray JC, Adeyemo AA.

Hum Mol Genet. 2018 Nov 19. doi: 10.1093/hmg/ddy402. [Epub ahead of print]

PMID:
30452639
3.

Krabbe Disease.

Orsini JJ, Escolar ML, Wasserstein MP, Caggana M.

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.
2000 Jun 19 [updated 2018 Oct 11].

4.

Copy number variants in hypoplastic right heart syndrome.

Giannakou A, Sicko RJ, Kay DM, Zhang W, Romitti PA, Caggana M, Shaw GM, Jelliffe-Pawlowski LL, Mills JL.

Am J Med Genet A. 2018 Dec;176(12):2760-2767. doi: 10.1002/ajmg.a.40527. Epub 2018 Oct 5.

PMID:
30289599
5.

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

Fadista J, Skotte L, Geller F, Bybjerg-Grauholm J, Gørtz S, Romitti PA, Caggana M, Kay DM, Matsson H, Boyd HA, Hougaard DM, Nordenskjöld A, Mills JL, Melbye M, Feenstra B.

Hum Mol Genet. 2019 Jan 15;28(2):332-340. doi: 10.1093/hmg/ddy347.

6.

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ.

Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10.

7.

Gender disparities in screening for congenital hypothyroidism using thyroxine as a primary screen.

DeMartino L, McMahon R, Caggana M, Tavakoli NP.

Eur J Endocrinol. 2018 Sep;179(3):161-167. doi: 10.1530/EJE-18-0399. Epub 2018 Jun 26.

PMID:
29945892
8.

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.

Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, Albertorio A, Cohen LL, Jain R, Andrew SP, Young SD, LaMarca NM, De Vivo DC, Caggana M, Chung WK.

Genet Med. 2018 Jun;20(6):608-613. doi: 10.1038/gim.2017.152. Epub 2017 Oct 12.

PMID:
29758563
9.

Copy number variants in Ebstein anomaly.

Giannakou A, Sicko RJ, Zhang W, Romitti P, Browne ML, Caggana M, Brody LC, Jelliffe-Pawlowski L, Shaw GM, Kay DM, Mills JL.

PLoS One. 2017 Dec 7;12(12):e0188168. doi: 10.1371/journal.pone.0188168. eCollection 2017.

10.

Rare copy number variants identified in prune belly syndrome.

Boghossian NS, Sicko RJ, Giannakou A, Dimopoulos A, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Romitti PA, Browne ML, Fan R, Liu A, Kay DM, Mills JL.

Eur J Med Genet. 2018 Mar;61(3):145-151. doi: 10.1016/j.ejmg.2017.11.008. Epub 2017 Nov 23.

11.

Idiopathic T cell lymphopenia identified in New York State Newborn Screening.

Albin-Leeds S, Ochoa J, Mehta H, Vogel BH, Caggana M, Bonagura V, Lehman H, Ballow M, Rubinstein A, Siegel S, Weiner L, Weinberg GA, Cunningham-Rundles C.

Clin Immunol. 2017 Oct;183:36-40. doi: 10.1016/j.clim.2017.07.002. Epub 2017 Jul 8.

12.

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Carter TC, Sicko RJ, Kay DM, Browne ML, Romitti PA, Edmunds ZL, Liu A, Fan R, Druschel CM, Caggana M, Brody LC, Mills JL.

J Hum Genet. 2017 Oct;62(10):877-884. doi: 10.1038/jhg.2017.56. Epub 2017 May 25.

13.

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C.

Clin Chem. 2017 Apr;63(4):842-851. doi: 10.1373/clinchem.2016.259036. Epub 2017 Feb 14.

14.

Newborn screening for cystic fibrosis: can one algorithm fit all?

Caggana M.

Expert Rev Mol Diagn. 2017 Mar;17(3):205-207. doi: 10.1080/14737159.2017.1288100. Epub 2017 Feb 6. No abstract available.

PMID:
28127999
15.

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

Dimopoulos A, Sicko RJ, Kay DM, Rigler SL, Druschel CM, Caggana M, Browne ML, Fan R, Romitti PA, Brody LC, Mills JL.

Birth Defects Res. 2017 Jan 20;109(1):8-15. doi: 10.1002/bdra.23586.

16.

Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Dimopoulos A, Sicko RJ, Kay DM, Rigler SL, Fan R, Romitti PA, Browne ML, Druschel CM, Caggana M, Brody LC, Mills JL.

Am J Med Genet A. 2017 Feb;173(2):352-359. doi: 10.1002/ajmg.a.37868. Epub 2016 Nov 30.

17.

The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns.

Pearce M, Dauerer E, DiRienzo AG, Caggana M, Tavakoli NP.

Eur J Pediatr. 2017 Jan;176(1):121-129. doi: 10.1007/s00431-016-2814-7. Epub 2016 Nov 29.

PMID:
27900477
18.

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Sicko RJ, Browne ML, Rigler SL, Druschel CM, Liu G, Fan R, Romitti PA, Caggana M, Kay DM, Brody LC, Mills JL.

PLoS One. 2016 Oct 27;11(10):e0165174. doi: 10.1371/journal.pone.0165174. eCollection 2016.

19.

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.

Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA.

J Neurosci Res. 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905.

PMID:
27638593
20.

Newborn screening for Krabbe's disease.

Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M.

J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. Review.

21.

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Hagen EM, Sicko RJ, Kay DM, Rigler SL, Dimopoulos A, Ahmad S, Doleman MH, Fan R, Romitti PA, Browne ML, Caggana M, Brody LC, Shaw GM, Jelliffe-Pawlowski LL, Mills JL.

Hum Genet. 2016 Dec;135(12):1355-1364. Epub 2016 Sep 15.

22.

Newborn screening for congenital adrenal hyperplasia in New York State.

Pearce M, DeMartino L, McMahon R, Hamel R, Maloney B, Stansfield DM, McGrath EC, Occhionero A, Gearhart A, Caggana M, Tavakoli NP.

Mol Genet Metab Rep. 2016 Mar 12;7:1-7. doi: 10.1016/j.ymgmr.2016.02.005. eCollection 2016 Jun.

23.

Hydroxyurea Use in Young Children With Sickle Cell Anemia in New York State.

Anders DG, Tang F, Ledneva T, Caggana M, Green NS, Wang Y, Sturman LS.

Am J Prev Med. 2016 Jul;51(1 Suppl 1):S31-8. doi: 10.1016/j.amepre.2016.01.001.

24.

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.

Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M.

Genet Med. 2016 Dec;18(12):1235-1243. doi: 10.1038/gim.2016.35. Epub 2016 May 12.

PMID:
27171547
25.

Eliciting parental support for the use of newborn blood spots for pediatric research.

Yeung EH, Louis GB, Lawrence D, Kannan K, McLain AC, Caggana M, Druschel C, Bell E.

BMC Med Res Methodol. 2016 Feb 4;16:14. doi: 10.1186/s12874-016-0120-8.

26.

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium.

Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21.

PMID:
26795590
27.

Rare copy number variants implicated in posterior urethral valves.

Boghossian NS, Sicko RJ, Kay DM, Rigler SL, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Druschel CM, Romitti PA, Browne ML, Fan R, Liu A, Brody LC, Mills JL.

Am J Med Genet A. 2016 Mar;170(3):622-33. doi: 10.1002/ajmg.a.37493. Epub 2015 Dec 14.

28.

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ; New York State Cystic Fibrosis Newborn Screening Consortium, van Roey P, Caggana M, Kay DM.

Hum Mutat. 2016 Feb;37(2):201-8. doi: 10.1002/humu.22927. Epub 2015 Dec 2.

PMID:
26538069
29.

Screening for cystic fibrosis in New York State: considerations for algorithm improvements.

Kay DM, Maloney B, Hamel R, Pearce M, DeMartino L, McMahon R, McGrath E, Krein L, Vogel B, Saavedra-Matiz CA, Caggana M, Tavakoli NP.

Eur J Pediatr. 2016 Feb;175(2):181-93. doi: 10.1007/s00431-015-2616-3. Epub 2015 Aug 21.

PMID:
26293390
30.

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.

Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M, Kier C; New York State Cystic Fibrosis Newborn Screening Consortium.

Pediatr Pulmonol. 2015 Aug;50(8):771-80. doi: 10.1002/ppul.23222. Epub 2015 Jun 22.

PMID:
26098992
31.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M.

Mol Genet Metab. 2015 Apr;114(4):599-603. doi: 10.1016/j.ymgme.2015.02.002. Epub 2015 Feb 12.

PMID:
25724074
32.

Fragile X protein in newborn dried blood spots.

Adayev T, LaFauci G, Dobkin C, Caggana M, Wiley V, Field M, Wotton T, Kascsak R, Nolin SL, Glicksman A, Hosmer N, Brown WT.

BMC Med Genet. 2014 Oct 28;15:119. doi: 10.1186/s12881-014-0119-0.

33.

Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.

Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Kay DM, Browne ML, McGrath EC, Abaan HO, Sutton M, Kirke PN, Caggana M, Shane B, Scott JM, Brody LC.

BMC Med Genet. 2014 Oct 8;15:102. doi: 10.1186/s12881-014-0102-9.

34.

Mortality of New York children with sickle cell disease identified through newborn screening.

Wang Y, Liu G, Caggana M, Kennedy J, Zimmerman R, Oyeku SO, Werner EM, Grant AM, Green NS, Grosse SD.

Genet Med. 2015 Jun;17(6):452-9. doi: 10.1038/gim.2014.123. Epub 2014 Sep 25.

35.

Novel copy-number variants in a population-based investigation of classic heterotaxy.

Rigler SL, Kay DM, Sicko RJ, Fan R, Liu A, Caggana M, Browne ML, Druschel CM, Romitti PA, Brody LC, Mills JL.

Genet Med. 2015 May;17(5):348-57. doi: 10.1038/gim.2014.112. Epub 2014 Sep 18.

36.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR.

JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. Erratum in: JAMA. 2014 Nov 26;312(20):2169. Bonagura, Vincent R [Added].

37.

Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots.

de Bruin E, Loeber JG, Meijer A, Castillo GM, Cepeda ML, Torres-Sepúlveda MR, Borrajo GJ, Caggana M, Giguere Y, Meyer M, Fukushi M, Devi AR, Khneisser I, Vilarinho L, von Döbeln U, Torresani T, Mackenzie J, Zutt I, Schipper M, Elvers LH, Koopmans MP.

J Clin Virol. 2014 Sep;61(1):74-80. doi: 10.1016/j.jcv.2014.06.020. Epub 2014 Jun 30.

38.

Analysis of polychlorinated biphenyls and organochlorine pesticides in archived dried blood spots and its application to track temporal trends of environmental chemicals in newborns.

Ma WL, Gao C, Bell EM, Druschel CM, Caggana M, Aldous KM, Louis GM, Kannan K.

Environ Res. 2014 Aug;133:204-10. doi: 10.1016/j.envres.2014.05.029. Epub 2014 Jun 24.

39.

Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state.

Wang Y, Sango-Jordan M, Caggana M.

Genet Med. 2014 Sep;16(9):665-70. doi: 10.1038/gim.2014.21. Epub 2014 Mar 13.

PMID:
24625447
40.

Newborn screening for SCID in New York State: experience from the first two years.

Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M.

J Clin Immunol. 2014 Apr;34(3):289-303. doi: 10.1007/s10875-014-0006-7. Epub 2014 Mar 1.

41.

Newborn screening: from Guthrie to whole genome sequencing.

Caggana M, Jones EA, Shahied SI, Tanksley S, Hermerath CA, Lubin IM.

Public Health Rep. 2013 Sep-Oct;128 Suppl 2:14-9. No abstract available.

42.

Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.

Feenstra B, Geller F, Carstensen L, Romitti PA, Körberg IB, Bedell B, Krogh C, Fan R, Svenningsson A, Caggana M, Nordenskjöld A, Mills JL, Murray JC, Melbye M.

JAMA. 2013 Aug 21;310(7):714-21. doi: 10.1001/jama.2013.242978.

43.

Temporal trends of polybrominated diphenyl ethers (PBDEs) in the blood of newborns from New York State during 1997 through 2011: analysis of dried blood spots from the newborn screening program.

Ma WL, Yun S, Bell EM, Druschel CM, Caggana M, Aldous KM, Buck Louis GM, Kannan K.

Environ Sci Technol. 2013 Jul 16;47(14):8015-21. doi: 10.1021/es401857v. Epub 2013 Jun 26.

44.

Cost-effective and scalable DNA extraction method from dried blood spots.

Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, Diantonio LL, Krein LM, Nichols MJ, Caggana M.

Clin Chem. 2013 Jul;59(7):1045-51. doi: 10.1373/clinchem.2012.198945. Epub 2013 Mar 18.

45.

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, Keutzer JM, Wenger DA, Caggana M, Orsini JJ Jr.

Clin Chim Acta. 2013 Apr 18;419:73-6. doi: 10.1016/j.cca.2013.01.017. Epub 2013 Feb 16.

PMID:
23419961
46.

Analysis of polyfluoroalkyl substances and bisphenol A in dried blood spots by liquid chromatography tandem mass spectrometry.

Ma W, Kannan K, Wu Q, Bell EM, Druschel CM, Caggana M, Aldous KM.

Anal Bioanal Chem. 2013 May;405(12):4127-38. doi: 10.1007/s00216-013-6787-3. Epub 2013 Feb 14.

PMID:
23404131
47.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA.

Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.

48.

Anorectal atresia and variants at predicted regulatory sites in candidate genes.

Carter TC, Kay DM, Browne ML, Liu A, Romitti PA, Kuehn D, Conley MR, Caggana M, Druschel CM, Brody LC, Mills JL.

Ann Hum Genet. 2013 Jan;77(1):31-46. doi: 10.1111/j.1469-1809.2012.00734.x. Epub 2012 Nov 6.

49.

Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity.

Wang Y, Kennedy J, Caggana M, Zimmerman R, Thomas S, Berninger J, Harris K, Green NS, Oyeku S, Hulihan M, Grant AM, Grosse SD.

Genet Med. 2013 Mar;15(3):222-8. doi: 10.1038/gim.2012.128. Epub 2012 Sep 27.

50.

Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.

Browne ML, Carter TC, Kay DM, Kuehn D, Brody LC, Romitti PA, Liu A, Caggana M, Druschel CM, Mills JL.

Am J Med Genet A. 2012 Oct;158A(10):2463-72. doi: 10.1002/ajmg.a.35565. Epub 2012 Sep 10.

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