Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 76

1.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M.

Mol Genet Metab. 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014. Epub 2018 Nov 29. Review.

2.

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].

3.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium, Plon SE, Jarvik GP.

Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007.

4.

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.

5.

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.

Longo N, Zori R, Wasserstein MP, Vockley J, Burton BK, Decker C, Li M, Lau K, Jiang J, Larimore K, Thomas JA.

Orphanet J Rare Dis. 2018 Jul 4;13(1):108. doi: 10.1186/s13023-018-0858-7.

6.

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.

Wasserstein MP, Diaz GA, Lachmann RH, Jouvin MH, Nandy I, Ji AJ, Puga AC.

J Inherit Metab Dis. 2018 Sep;41(5):829-838. doi: 10.1007/s10545-017-0123-6. Epub 2018 Jan 5.

7.

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Review.

8.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP.

Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13. Review.

9.

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.

10.

Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.

Sanderson SC, Linderman MD, Suckiel SA, Zinberg R, Wasserstein M, Kasarskis A, Diaz GA, Schadt EE.

Eur J Hum Genet. 2017 Feb;25(3):280-292. doi: 10.1038/ejhg.2016.178. Epub 2017 Jan 4.

11.

Long-term follow-up in newborn screening: the role of collaboration.

Wasserstein MP.

Genet Med. 2016 Aug 25. doi: 10.1038/gim.2016.99. [Epub ahead of print] No abstract available.

12.

Types A and B Niemann-Pick Disease.

Schuchman EH, Wasserstein MP.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:674-81. Review.

PMID:
27491215
13.

Surgery and Anesthesia Exposure Is Not a Risk Factor for Cognitive Impairment After Major Noncardiac Surgery and Critical Illness.

Hughes CG, Patel MB, Jackson JC, Girard TD, Geevarghese SK, Norman BC, Thompson JL, Chandrasekhar R, Brummel NE, May AK, Elstad MR, Wasserstein ML, Goodman RB, Moons KG, Dittus RS, Ely EW, Pandharipande PP; MIND-ICU, BRAIN-ICU investigators.

Ann Surg. 2017 Jun;265(6):1126-1133. doi: 10.1097/SLA.0000000000001885.

14.

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.

Thurberg BL, Wasserstein MP, Jones SA, Schiano TD, Cox GF, Puga AC.

Am J Surg Pathol. 2016 Sep;40(9):1232-42. doi: 10.1097/PAS.0000000000000659.

15.

Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory.

Kelly N, Makarem DC, Wasserstein MP.

J Law Med Ethics. 2016 Jun;44(2):231-40. doi: 10.1177/1073110516654133.

16.

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.

Oishi K, Arnon R, Wasserstein MP, Diaz GA.

Pediatr Transplant. 2016 Sep;20(6):756-69. doi: 10.1111/petr.12741. Epub 2016 Jun 21. Review.

17.

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
18.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L.

PLoS Genet. 2016 Apr 27;12(4):e1005848. doi: 10.1371/journal.pgen.1005848. eCollection 2016 Apr.

19.

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C.

Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4.

20.

Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project.

Suckiel SA, Linderman MD, Sanderson SC, Diaz GA, Wasserstein M, Kasarskis A, Schadt EE, Zinberg RE.

J Genet Couns. 2016 Oct;25(5):1044-53. doi: 10.1007/s10897-016-9935-z. Epub 2016 Feb 22.

PMID:
26898680
21.

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
22.

Incidence and Risk Factors for Intensive Care Unit-related Post-traumatic Stress Disorder in Veterans and Civilians.

Patel MB, Jackson JC, Morandi A, Girard TD, Hughes CG, Thompson JL, Kiehl AL, Elstad MR, Wasserstein ML, Goodman RB, Beckham JC, Chandrasekhar R, Dittus RS, Ely EW, Pandharipande PP.

Am J Respir Crit Care Med. 2016 Jun 15;193(12):1373-81. doi: 10.1164/rccm.201506-1158OC.

23.

Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.

Sanderson SC, Linderman MD, Suckiel SA, Diaz GA, Zinberg RE, Ferryman K, Wasserstein M, Kasarskis A, Schadt EE.

Eur J Hum Genet. 2016 Jan;24(1):153. doi: 10.1038/ejhg.2015.179. Epub 2015 Oct 28. No abstract available.

24.

Acid Sphingomyelinase Deficiency.

Wasserstein MP, Schuchman EH.

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.
2006 Dec 7 [updated 2015 Jun 18].

25.

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):88-97. doi: 10.1016/j.ymgme.2015.05.013. Epub 2015 May 30.

26.

Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.

Sanderson SC, Linderman MD, Suckiel SA, Diaz GA, Zinberg RE, Ferryman K, Wasserstein M, Kasarskis A, Schadt EE.

Eur J Hum Genet. 2016 Jan;24(1):14-20. doi: 10.1038/ejhg.2015.118. Epub 2015 Jun 3. Erratum in: Eur J Hum Genet. 2016 Jan;24(1):153.

27.

Types A and B Niemann-Pick disease.

Schuchman EH, Wasserstein MP.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):237-47. doi: 10.1016/j.beem.2014.10.002. Epub 2014 Oct 16. Review.

PMID:
25987176
28.

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF.

Genet Med. 2016 Jan;18(1):34-40. doi: 10.1038/gim.2015.24. Epub 2015 Apr 2.

PMID:
25834946
29.

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
30.

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.

Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S.

Lancet. 2014 Jul 5;384(9937):37-44. doi: 10.1016/S0140-6736(13)61841-3. Epub 2014 Apr 14.

31.

Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study.

Sanderson SC, Linderman MD, Kasarskis A, Bashir A, Diaz GA, Mahajan MC, Shah H, Wasserstein M, Zinberg RE, Zweig M, Schadt EE.

Genome Med. 2013 Dec 30;5(12):113. doi: 10.1186/gm518. eCollection 2013.

32.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL.

Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11.

33.

Inner macular hyperreflectivity demonstrated by optical coherence tomography in niemann-pick disease.

Rudich DS, Curcio CA, Wasserstein M, Brodie SE.

JAMA Ophthalmol. 2013 Sep;131(9):1244-6. doi: 10.1001/jamaophthalmol.2013.2374. No abstract available.

34.

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA.

Mol Genet Metab. 2013 Nov;110(3):241-7. doi: 10.1016/j.ymgme.2013.07.018. Epub 2013 Jul 25.

PMID:
23954310
35.

Aggressive therapy improves cirrhosis in glycogen storage disease type IX.

Tsilianidis LA, Fiske LM, Siegel S, Lumpkin C, Hoyt K, Wasserstein M, Weinstein DA.

Mol Genet Metab. 2013 Jun;109(2):179-82. doi: 10.1016/j.ymgme.2013.03.009. Epub 2013 Mar 21.

36.

Morbidity and mortality in type B Niemann-Pick disease.

McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP.

Genet Med. 2013 Aug;15(8):618-23. doi: 10.1038/gim.2013.4. Epub 2013 Feb 14.

PMID:
23412609
37.

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.

Wasserstein M, Godbold J, McGovern MM.

J Inherit Metab Dis. 2013 Jan;36(1):123-7. doi: 10.1007/s10545-012-9503-0. Epub 2012 Jun 21.

PMID:
22718274
38.

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).

Thurberg BL, Wasserstein MP, Schiano T, O'Brien F, Richards S, Cox GF, McGovern MM.

Am J Surg Pathol. 2012 Aug;36(8):1234-46. doi: 10.1097/PAS.0b013e31825793ff.

39.

Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database.

Arnon R, Annunziato R, Miloh T, Wasserstein M, Sogawa H, Wilson M, Suchy F, Kerkar N.

Pediatr Transplant. 2011 Jun;15(4):400-5. doi: 10.1111/j.1399-3046.2011.01497.x. Epub 2011 Apr 19.

PMID:
21504522
40.

A randomized study of alglucosidase alfa in late-onset Pompe's disease.

van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA.

N Engl J Med. 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859.

41.

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH.

Mol Med. 2010 Jul-Aug;16(7-8):316-21. doi: 10.2119/molmed.2010.00017. Epub 2010 Apr 6.

42.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M.

Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1.

PMID:
20036593
43.

Imaging manifestations of Niemann-Pick disease type B.

Simpson WL Jr, Mendelson D, Wasserstein MP, McGovern MM.

AJR Am J Roentgenol. 2010 Jan;194(1):W12-9. doi: 10.2214/AJR.09.2871.

PMID:
20028884
44.

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA.

Mol Genet Metab. 2010 Feb;99(2):116-23. doi: 10.1016/j.ymgme.2009.09.008. Epub 2009 Sep 27.

45.

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report.

Profitlich L, Kirmse B, Wasserstein MP, Diaz G, Srivastava S.

Cases J. 2009 Jul 30;2:8603. doi: 10.4076/1757-1626-2-8603.

46.

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S.

Mol Genet Metab. 2009 Dec;98(4):344-8. doi: 10.1016/j.ymgme.2009.07.017. Epub 2009 Aug 12.

PMID:
19767224
47.

Newborn screening for Krabbe disease: the New York State model.

Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP.

Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010.

PMID:
19302934
48.

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.

Lee P, Treacy EP, Crombez E, Wasserstein M, Waber L, Wolff J, Wendel U, Dorenbaum A, Bebchuk J, Christ-Schmidt H, Seashore M, Giovannini M, Burton BK, Morris AA; Sapropterin Research Group.

Am J Med Genet A. 2008 Nov 15;146A(22):2851-9. doi: 10.1002/ajmg.a.32562.

PMID:
18932221
49.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF.

Pediatrics. 2008 Aug;122(2):e341-9. doi: 10.1542/peds.2007-3016. Epub 2008 Jul 14.

50.

Farber's disease type IV presenting with cholestasis and neonatal liver failure: report of two cases.

Willis A, Vanhuse C, Newton KP, Wasserstein M, Morotti RA.

Pediatr Dev Pathol. 2008 Jul-Aug;11(4):305-8. Epub 2007 Sep 28.

PMID:
17990940

Supplemental Content

Loading ...
Support Center