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Items: 1 to 50 of 92

1.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW.

N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9.

PMID:
31597037
2.

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

Waisbren SE, Stefanatos AK, Kok TMY, Ozturk-Hismi B.

J Inherit Metab Dis. 2019 Nov;42(6):1176-1191. doi: 10.1002/jimd.12146. Epub 2019 Aug 1. Review.

PMID:
31268178
3.

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT.

JIMD Rep. 2019 Mar 14;46(1):63-69. doi: 10.1002/jmd2.12018. eCollection 2019 Mar.

4.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

5.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT.

Mol Genet Metab. 2019 Apr;126(4):368-376. doi: 10.1016/j.ymgme.2019.01.016. Epub 2019 Jan 22.

PMID:
30718057
6.

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.

Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P; Urea Cycle Disorders Consortium.

J Inherit Metab Dis. 2019 Mar;42(2):243-253. doi: 10.1002/jimd.12013. Epub 2019 Jan 22.

PMID:
30671983
7.

Revising the Psychiatric Phenotype of Homocystinuria.

Almuqbil MA, Waisbren SE, Levy HL, Picker JD.

Genet Med. 2019 Aug;21(8):1827-1831. doi: 10.1038/s41436-018-0419-4. Epub 2019 Jan 15.

PMID:
30643218
8.

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB; BabySeq Project Team.

Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13.

9.

The BabySeq project: implementing genomic sequencing in newborns.

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team, Green RC, Beggs AH.

BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.

10.

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S; Members of the Urea Cycle Disorders Consortium.

J Inherit Metab Dis. 2018 Jul;41(4):657-667. doi: 10.1007/s10545-017-0132-5. Epub 2018 Feb 8.

11.

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

Rajabi F, Rodan LH, Jonas MM, Soul JS, Ullrich NJ, Wessel A, Waisbren SE, Tan WH, Berry GT.

JIMD Rep. 2018;40:17-22. doi: 10.1007/8904_2017_55. Epub 2017 Sep 9.

12.

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.

13.

Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation.

García MI, Araya G, Coo S, Waisbren SE, de la Parra A.

Mol Genet Metab Rep. 2017 Apr 28;11:54-58. doi: 10.1016/j.ymgmr.2017.04.006. eCollection 2017 Jun.

14.

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.

O'Donnell-Luria AH, Lin AP, Merugumala SK, Rohr F, Waisbren SE, Lynch R, Tchekmedyian V, Goldberg AD, Bellinger A, McFaline-Figueroa JR, Simon T, Gershanik EF, Levy BD, Cohen DE, Samuels MA, Berry GT, Frank NY.

Mol Genet Metab. 2017 May;121(1):9-15. doi: 10.1016/j.ymgme.2017.03.003. Epub 2017 Mar 10.

PMID:
28408159
15.

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

Welling L, Waisbren SE, Antshel KM, Colhoun HO, Gautschi M, Grünewald S, Holman R, van der Lee JH, Treacy EP, Bosch AM.

JIMD Rep. 2017;37:115-123. doi: 10.1007/8904_2017_22. Epub 2017 Apr 9.

16.

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

Landau YE, Waisbren SE, Chan LM, Levy HL.

J Inherit Metab Dis. 2017 Mar;40(2):209-218. doi: 10.1007/s10545-016-0004-4. Epub 2017 Jan 4.

PMID:
28054209
17.

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.

van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM.

JIMD Rep. 2017;35:87-96. doi: 10.1007/8904_2016_28. Epub 2016 Dec 20.

18.

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet).

J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. Review.

19.

Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria.

Waisbren SE, Prabhu SP, Greenstein P, Petty C, Schomer D, Anastasoaie V, Charette K, Rodriguez D, Merugumala S, Lin AP.

JIMD Rep. 2017;34:77-86. doi: 10.1007/8904_2016_11. Epub 2016 Sep 28.

20.

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium (UCDC), Batshaw ML.

J Inherit Metab Dis. 2016 Jul;39(4):573-84. doi: 10.1007/s10545-016-9942-0. Epub 2016 May 23.

21.

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, Waisbren SE, Mulberg AE.

Mol Genet Metab. 2016 Jun;118(2):65-9. doi: 10.1016/j.ymgme.2016.04.006. Epub 2016 Apr 14.

22.

Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns.

Waisbren SE, Weipert CM, Walsh RC, Petty CR, Green RC.

Pediatrics. 2016 Jan;137 Suppl 1:S30-5. doi: 10.1542/peds.2015-3731G.

23.

Cognitive functioning in mild hyperphenylalaninemia.

de la Parra A, García MI, Waisbren SE, Cornejo V, Raimann E.

Mol Genet Metab Rep. 2015 Oct 29;5:72-75. doi: 10.1016/j.ymgmr.2015.10.009. eCollection 2015 Dec.

25.

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

Waisbren SE, Rohr F, Anastasoaie V, Brown M, Harris D, Ozonoff A, Petrides S, Wessel A, Levy HL.

JIMD Rep. 2015;21:23-33. doi: 10.1007/8904_2014_365. Epub 2015 Feb 25.

26.

Parents are interested in newborn genomic testing during the early postpartum period.

Waisbren SE, Bäck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC.

Genet Med. 2015 Jun;17(6):501-4. doi: 10.1038/gim.2014.139. Epub 2014 Dec 4.

27.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM.

Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6.

PMID:
24667081
28.

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Waisbren SE, Landau Y, Wilson J, Vockley J.

Dev Disabil Res Rev. 2013;17(3):260-8. doi: 10.1002/ddrr.1119.

29.

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL.

Am J Med Genet A. 2011 Dec;155A(12):2956-63. doi: 10.1002/ajmg.a.34297. Epub 2011 Oct 14.

30.

The adult galactosemic phenotype.

Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT.

J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21.

31.

Angelman syndrome: Mutations influence features in early childhood.

Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM.

Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775.

32.

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.

Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU.

J Dev Behav Pediatr. 2010 Sep;31(7):592-601. doi: 10.1097/DBP.0b013e3181ee408e. Erratum in: J Dev Behav Pediatr. 2011 Apr;32(3):267.

33.

Psychiatric symptoms and disorders in phenylketonuria.

Brumm VL, Bilder D, Waisbren SE.

Mol Genet Metab. 2010;99 Suppl 1:S59-63. doi: 10.1016/j.ymgme.2009.10.182.

PMID:
20123472
34.

Impact of false-positive newborn metabolic screening results on early health care utilization.

Lipstein EA, Perrin JM, Waisbren SE, Prosser LA.

Genet Med. 2009 Oct;11(10):716-21. doi: 10.1097/GIM.0b013e3181b3a61e.

35.

Parental tolerance of false-positive newborn screening results.

Prosser LA, Ladapo JA, Rusinak D, Waisbren SE.

Arch Pediatr Adolesc Med. 2008 Sep;162(9):870-6. doi: 10.1001/archpediatrics.2008.1.

PMID:
18762606
36.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):39-45. doi: 10.1016/j.ymgme.2008.06.002. Epub 2008 Aug 3.

37.

Expanded newborn screening: information and resources for the family physician.

Waisbren SE.

Am Fam Physician. 2008 Apr 1;77(7):987-94. Review.

38.

Gender differences in research grant applications and funding outcomes for medical school faculty.

Waisbren SE, Bowles H, Hasan T, Zou KH, Emans SJ, Goldberg C, Gould S, Levine D, Lieberman E, Loeken M, Longtine J, Nadelson C, Patenaude AF, Quinn D, Randolph AG, Solet JM, Ullrich N, Walensky R, Weitzman P, Christou H.

J Womens Health (Larchmt). 2008 Mar;17(2):207-14. doi: 10.1089/jwh.2007.0412.

PMID:
18321172
39.

Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.

Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):63-70. Epub 2007 Jun 25.

PMID:
17591452
40.

Newborn screening for metabolic disorders.

Waisbren SE.

JAMA. 2006 Aug 23;296(8):993-5. No abstract available.

PMID:
16926360
41.

A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.

Hewlett J, Waisbren SE.

J Inherit Metab Dis. 2006 Oct;29(5):677-82. Epub 2006 Aug 17. Review.

PMID:
16917730
42.

Expanded newborn screening for biochemical disorders: the effect of a false-positive result.

Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE.

Pediatrics. 2006 Jun;117(6):1915-21.

PMID:
16740831
43.

The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts.

Gennaccaro M, Waisbren SE, Marsden D.

J Inherit Metab Dis. 2005;28(6):819-24.

PMID:
16435173
44.

Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels.

Antshel KM, Gurian EA, Waisbren SE.

Am J Orthopsychiatry. 2002 Oct;72(4):577-84.

PMID:
15792042
45.
46.

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.

Waisbren SE, Rones M, Read CY, Marsden D, Levy HL.

J Pediatr Psychol. 2004 Oct;29(7):565-70.

PMID:
15347704
47.

Maternal histidinaemia: pregnancies and offspring outcomes.

Levy HL, Yu JJ, Waisbren SE.

J Inherit Metab Dis. 2004;27(2):197-204.

PMID:
15159650
48.

Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar.

Antshel KM, Brewster S, Waisbren SE.

J Child Psychol Psychiatry. 2004 Mar;45(3):622-30.

PMID:
15055380
49.

Expanded screening of newborns for genetic disorders.

Waisbren SE, Levy HL.

JAMA. 2004 Feb 18;291(7):820-1; author reply 821. No abstract available.

PMID:
14970058
50.

Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression.

Antshel KM, Waisbren SE.

J Abnorm Child Psychol. 2003 Dec;31(6):565-74.

PMID:
14658738

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