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Vladutiu GD. Quackenbush EJ. Hainline BE. Albers S. Smail DS. Bennett MJ. Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. Journal of Pediatrics. 141(5):734-6, 2002 Nov.

Stein EA. Illingworth DR. Kwiterovich PO Jr. Liacouras CA. Siimes MA. Jacobson MS. Brewster TG. Hopkins P. Davidson M. Graham K. Arensman F. nopp RH. DuJovne C. Williams CL. Isaacsohn JL. Jacobsen CA. Laskarzewski PM. Ames S. Gormley GJ. Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial. [see comments]. [Clinical Trial. Journal Article. Multicenter Study. Randomized Controlled Trial] JAMA. 281(2):137-44, 1999 Jan 13.

Albers S. Waisbren SE. Ampola MG. Brewster TG. Burke LW. Demmer LA. Filiano J. Greenstein RM. Ingham CL. Korson MS. Marsden D. Schwartz RC. Seashore MR. Shih VE. Levy HL. New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry. [Journal Article] Journal of Inherited Metabolic Disease. 24(2):303-4, 2001 April.

Antshel, Kevin M; Waisbren, Susan E. Timing is everything: Executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology. Vol 17(3):458-468, 2003 Jul.

Antshel KM , Brewster S, Waisbren SE . Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar. J Child Psychol Psychiatry. 2004 Mar;45(3):622-30.

Antshel KM, Waisbren SE . Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. J Abnorm Child Psychol. 2003 Dec;31(6):565-74.

Sheetz AH, Goldman PG, Millett K, Franks JC, McIntyre CL, Carroll CR , Gorak D, Harrison CD, Carrick MA. Guidelines for managing life-threatening food allergies in Massachusetts schools. J Sch Health. 2004 May;74(5):155-60.

Chace, D. H., T. A. Kalas, et al. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet 3: 17-45. 2002

Comeau, A. M., Eaton ,R. B. Successes of newborn screening programs. Science 295(5552): 44-5. 2002

Comeau AM , Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB . Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics. 2004 Jun;113(6):1573-1581.

Comeau AM, Larson C, Eaton RB . Integration of new genetic diseases into statewide newborn screening: New England experience. Am J Med Genet. 2004 Feb 15;125C(1):35-41.

Demmer LA. Totzkay CM. Zapka JG. An interdisciplinary interclerkship in genetic testing and ethics. [Evaluation Studies. Journal Article] Academic Medicine. 76(5):538-9, 2001 May.

Demmer LA. O'Neill MJ. Roberts AE. Clay MC. Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. [Letter] JAMA. 284(20):2595-6, 2000 Nov 22-29.

Eaton RB. Comeau AM. Zytkovicz TH. Larson C. Newborn screening: new developments in a proven field. Clinical Laboratory Science. 15(4):239-44, 2002 Fall.

Fearing MK, Levy HL . Expanded newborn screening using tandem mass spectrometry. Adv Pediatr. 2003;50:81-111.

Marin-Garcia J. Goldenthal MJ. Filiano JJ. Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype. Journal of Child Neurology. 17(10):759-65, 2002 Oct.

Filiano, James J; Goldenthal, Michael J; Rhodes, C. Harker; Marin-Garcia, Jose. Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. Journal of Child Neurology. Vol 17(6):435-439, 2002 Jun.

Filiano, J. J., Bellimer S. G., et al. Tandem mass spectrometry and newborn screening: pilot data and review Pediatr Neurol 26(3): 201-4. 2002

Van Der Velde L, Curran AK, Filiano JJ , Darnall RA, Bartlett D Jr, Leiter JC. Prolongation of the laryngeal chemoreflex after inhibition of the rostral ventral medulla in piglets: a role in SIDS? J Appl Physiol. 2003 May;94(5):1883-95.

Kadmon PM. Noto RB. Boney CM. Goodwin G. Gruppuso PA. Thyroid storm in a child following radioactive iodine (RAI) therapy: a consequence of RAI versus withdrawal of antithyroid medication. [Journal Article] Journal of Clinical Endocrinology & Metabolism. 86(5):1865-7, 2001 May.

Skalsky YM. Ajuh PM. Parker C. Lamond AI. Goodwin G. Cooper CS. PRCC, the commonest TFE3 fusion partner in papillary renal carcinoma is associated with pre-mRNA splicing factors. [Journal Article] Oncogene. 20(2):178-87, 2001 Jan 11.

Aoki N. Wall MJ. Demsar J. Zupan B. Granchi T. Schreiber MA. Holcomb JB. Byrne M. Liscum KR. Goodwin G. Beck JR. Mattox KL. Predictive model for survival at the conclusion of a damage control laparotomy. [Journal Article] American Journal of Surgery. 180(6):540-4; discussion 544-5, 2000 Dec.

Goodwin, G., M. E. Msall, et al. Newborn screening: an overview with an update on recent advances. Curr Probl Pediatr Adolesc Health Care 32(5): 144-72. 2002

Khamzina L. Gruppuso PA. Wands JR. Insulin signaling through insulin receptor substrate 1 and 2 in normal liver development. Gastroenterology. 125(2):572-85, 2003 Aug.

Phornphutkul C. Okubo T. Wu K. Harel Z. Tracy TF Jr. Pinar H. Chen S. Gruppuso PA. Goodwin G. Aromatase p450 expression in a feminizing adrenal adenoma presenting as isosexual precocious puberty. [Journal Article] Journal of Clinical Endocrinology & Metabolism. 86(2):649-52, 2001 Feb.

Sticherling C. Tada H. Greenstein R. Chan CW. Chough SP. Baker RL. Wasmer K. Oral H. Pelosi F. Knight BP. Strickberger SA. Morady F. Incidence and clinical significance of inducible atrial tachycardia in patients with atrioventricular nodal reentrant tachycardia. [Journal Article] Journal ofÊ Cardiovascular Electrophysiology. 12(5):507-10, 2001.

Boney CM. Sekimoto H. Gruppuso PA. Frackelton AR Jr. Src family tyrosine kinases participate in insulin-like growth factor i mitogenic signaling in 3t3-l1 cells. [Journal Article] Cell Growth & Differentiation. 12(7):379-86, 2001 July.

Tseng YT. Kopel R. Stabila JP. McGonnigal BG. Nguyen TT. Gruppuso PA. Padbury JF. Beta-adrenergic receptors (betaAR) regulate cardiomyocyte proliferation during early postnatal life. [Journal Article] FASEB Journal. 15(11):1921-6, 2001 Sep.

Morin MJ. Karr SM. Faris RA. Gruppuso PA. Developmental variability in expression and regulation of inducible nitric oxide synthase in rat intestine. [Journal Article] American Journal of Physiology - Gastrointestinal & Liver Physiology. 281(2):G552-9, 2001 Aug.

Boney CM. Gruppuso PA. Faris RA. Frackelton AR Jr. The critical role of Shc in insulin-like growth factor-I-mediated mitogenesis and differentiation in 3T3-L1 preadipocytes. [Journal Article] Molecular Endocrinology. 14(6):805-13, 2000 Jun.

Phornphutkul C. Okubo T. Wu K. Harel Z. Tracy TF Jr. Pinar H. Chen S. Gruppuso PA. Goodwin G. Aromatase p450 expression in a feminizing adrenal adenoma presenting as isosexual precocious puberty. [Journal Article] Journal of Clinical Endocrinology & Metabolism. 86(2):649-52, 2001 Feb.

Awad MM. Enslen H. Boylan JM. Davis RJ. Gruppuso PA. Growth regulation via p38 mitogen-activated protein kinase in developing liver.[Journal Article] Journal of Biological Chemistry. 275(49):38716-21, 2000 Dec 8.

Gruppuso PA. Boylan JM. Vaslet CA. Identification of candidate growth-regulating genes that are overexpressed in late gestation fetal liver in the rat. [Journal Article] Biochimica et Biophysica Acta. 1494(3):242-7, 2000 Dec 1.

Awad MM. Sanders JA. Gruppuso PA. A potential role for p15(Ink4b) and p57(Kip2) in liver development. [Journal Article] FEBS Letters. 483(2-3):160-4, 2000 Oct 20.

Awad MM. Gruppuso PA. Cell cycle control during liver development in the rat: evidence indicating a role for cyclin D1 posttranscriptional regulation. [Journal Article] Cell Growth & Differentiation. 11(6):325-34, 2000 Jun.

Phornphutkul C. Frick GP. Goodman HM. Berry SA. Gruppuso PA. Hepatic growth hormone signaling in the late gestation fetal rat. [Journal Article] Endocrinology. 141(10):3527-33, 2000 Oct.

Phornphutkul C. Fausto-Sterling A. Gruppuso PA. Gender self-reassignment in an XY adolescent female born with ambiguous genitalia. [Journal Article] Pediatrics. 106(1 Pt 1):135-7, 2000 Jul.

Gruppuso PA. Boylan JM. Hepatic epidermal growth factor-regulated mitogen-activated protein kinase kinase kinase activity in the rat: lack of identity with known forms of raf and MEKK. [Journal Article] FEBS Letters. 466(1):200-4, 2000 Jan 21.

Antshel, Kevin M; Gurian, Elizabeth A; Waisbren, Susan E. Maternal phenylketonuria: A case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels. American Journal of Orthopsychiatry. Vol 72(4) Oct 2002, 577-584.

Stoler JM, Sabry MA, Hanley C , Hoppel CL, Shih VE . Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. J Inherit Metab Dis. 2004;27(5):679-684.

Viner-Brown SI. Kim H. Hollinshead WH. Infant mortality in Rhode Island: a time trend analysis. Medicine & Health, Rhode Island. 86(1):24-6, 2003 Jan.

Viner-Brown SI. Cain R. Hollinshead WH. Multiple gestation births in Rhode Island, 1989-1998. [Journal Article] Medicine & Health, Rhode Island. 83(6):189-90, 2000 Jun.

Hollinshead WH. Vigliani MB. Walsh NE. LeClair CA. Zelano LA. Assessing and responding to pre/periconception risks--early experience with the Rhode Island Women's Health Screening & Referral Program. [Journal Article] Medicine & Health, Rhode Island. 83(5):136-9, 2000 May.

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 Jr. Nicholson L. Further delineation of cardiac abnormalities in Costello syndrome. American Journal of Medical Genetics. 111(2):115-29, 2002 Aug 1.

Cooper LL. Hansen RM. Darras BT. Korson M. Dougherty FE. Shoffner JM. Fulton AB. Rod photoreceptor function in children with mitochondrial disorders. Archives of Ophthalmology. 120(8):1055-62, 2002 Aug.

Huang T. Korson MS. Krauss C. Holmes LB. Four cases with hypoplastic thumbs and encephaloceles. American Journal of Medical Genetics. 111(2):178-81, 2002 Aug 1.

Kalsner LR. Rohr FJ. Strauss KA. Korson MS. Levy HL. Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids. [Clinical Trial. Journal Article] Journal of Pediatrics. 139(3):421-7, 2001 Sep.

Korson MS. Advances in newborn screening for metabolic disorders: what the pediatrician needs to know. [Review] [12 refs] [Journal Article. Review. Review Literature] Pediatric Annals. 29(5):294-301, 2000 May.

Hagen T. Korson MS. Wolfsdorf JI. Urinary lactate excretion to monitor the efficacy of treatment of type I glycogen storage disease. [Journal Article] Molecular Genetics & Metabolism. 70(3):189-95, 2000 Jul.

Allard P, Cowell LD, Zytkovicz TH, Korson MS, Ampola MG . Determination of pheylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer. Clin Biochem. 2004 Oct;37(10):857-62.

Hill KP, Lukonis CJ, Korson MS , Weinstein C, Thall M, Schwartz JT. Neuropsychiatric illness in a patient with cobalamin G disease, an inherited disorder of vitamin B12 metabolism. Harv Rev Psychiatry. 2004 Mar-Apr;12(2):116-22.

Prasad C, Nurko S, Borovoy J, Korson MS . The importance of gut motility in the metabolic control of propionic acidemia. J Pediatr. 2004 Apr;144(4):532-5.

Mitchell ML. Hermos RJ. Larson CA. Thyroid peroxidase antibodies in dried blood specimens of newborns. Thyroid. 12(7):609-11, 2002 Jul.

Mandl KD. Feit S. Larson C. Kohane IS. Newborn screening program practices in the United States: notification, research, and consent. Pediatrics. 109(2):269-73, 2002 Feb.

Zytkovicz TH. Fitzgerald EF. Marsden D. Larson CA. Shih VE. Johnson DM. Strauss AW. Comeau AM. Eaton RB. Grady GF. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. [Journal Article] Clinical Chemistry. 47(11):1945-55, 2001 November.

Mitchell ML. Hermos RJ. Larson CA. Palomaki GE. Haddow JE. Prevalence of GAD autoantibodies in women with gestational diabetes: a retrospective analysis. [Letter] Diabetes Care. 23(11):1705-6, 2000 Nov.

Mandel SJ. Hermos RJ. Larson CA. Prigozhin AB. Rojas DA. Mitchell ML. Atypical hypothyroidism and the very low birthweight infant. [JournalArticle] Thyroid. 10(8):693-5, 2000 Aug.

Picker JD. Puga AC. Levy HL. Marsden D. Shih VE. Degirolami U. Ligon KL. Cederbaum SD. Kern RM. Cox GF. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. Journal of Pediatrics. 142(3):349-52, 2003 Mar.

Rohr FJ. Munier AW. Levy HL. Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria. Journal of Inherited Metabolic Disease. 24(6):623-30, 2001 Nov.

Albers S. Marsden D. Quackenbush E. Stark AR. Levy HL. Irons M. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. [Journal Article] Pediatrics. 107(6):E103, 2001 Jun.

Albers S. Levy HL. One more thought on sudden infant death syndrome. [letter; comment]. [Comment. Letter] Pediatrics. 107(4):809, 2001Apr.

Levy HL. Guldberg P. Guttler F. Hanley WB. Matalon R. Rouse BM. Trefz F. Azen C. Allred EN. de la Cruz F. Koch R. Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. [Clinical Trial. Journal Article] Pediatric Research. 49(5):636-42, 2001

Kim SZ. Kupke KG. Ierardi-Curto L. Holme E. Greter J. Tanguay RM. Poudrier J. D'Astous M. Lettre F. Hahn SH. Levy HL. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. [Journal Article] Journal of Inherited Metabolic Disease. 23(8):791-804, 2000 Dec.

Hunter M. Angelicheva D. Levy HL. Pueschel SM. Kalaydjieva L. Novel mutations in the GALK1 gene in patients with galactokinase deficiency.[Journal Article] Human Mutation. 17(1):77-8, 2001.

Levy HL. Comments on final intelligence in late treated patients with phenylketonuria. [Journal Article] European Journal of Pediatrics. 159 Suppl 2:S149, 2000 Oct.

Mudd SH. Jenden DJ. Capdevila A. Roch M. Levy HL. Wagner C. Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline. [Journal Article] Metabolism: Clinical & Experimental. 49(12):1542-7, 2000 Dec.

Varvogli L. Repetto GM. Waisbren SE. Levy HL. High cognitive outcome in an adolescent with mut- methylmalonic acidemia. [Review] [23 refs] [Journal Article. Review. Review of Reported Cases] American Journal of Medical Genetics. 96(2):192-5, 2000 Apr 3.

Tangerman A. Wilcken B. Levy HL. Boers GH. Mudd SH. Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. [Journal Article] Metabolism: Clinical & Experimental. 49(8):1071-7, 2000 Aug.

Cataltepe S. van Marter LJ. Kozakewich H. Wessel DL. Lee PJ. Levy HL. Pulmonary hypertension associated with nonketotic hyperglycinaemia. [Journal Article] Journal of Inherited Metabolic Disease. 23(2):137-44, 2000 Mar.

Chamberlin ME. Ubagai T. Mudd SH. Thomas J. Pao VY. Nguyen TK. Levy HL. Greene C. Freehauf C. Chou JY. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. [Journal Article] American Journal of Human Genetics. 66(2):347-55, 2000 Feb.

Platt LD. Koch R. Hanley WB. Levy HL. Matalon R. Rouse B. Trefz F. de la Cruz F. Guttler F. Azen C. Friedman EG. The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. [Journal Article. Multicenter Study] American Journal of Obstetrics & Gynecology. 182(2):326-33, 2000 Feb.

Waisbren SE. Hanley W. Levy HL. Shifrin H. Allred E. Azen C. Chang PN. Cipcic-Schmidt S. de la Cruz F. Hall R. Matalon R. Nanson J.Rouse B. Trefz F. Koch R. Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. [Journal Article. Multicenter Study] JAMA. 283(6):756-62, 2000 Feb 9.

Levy, H. L., J. E. Vargas, et al. Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25(4): 299-314. 2002

Piper MA. Lindenmayer JM. Lengerich EJ. Pass KA. Brown WG. Crowder WB. Khoury MJ. Baker TG. Lloyd-Puryear MA. Bryan JL. The role of state public health agencies in genetics and disease prevention: results of a national survey. [Journal Article] Public Health Reports. 116(1):22-31, 2001 Jan-Feb.

Albers S. Levy HL. Irons M. Strauss AW. Marsden D. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. [Journal Article] Journal of Inherited Metabolic Disease. 24(3):417-8, 2001 June.

Levy HL , Yu JJ, Waisbren SE . Maternal histidinaemia: pregnancies and offspring outcomes. I Inherit Metab Dis. 2004;27(2):197-204.

Koch R, Hanley W, Levy H , Matalon K, Matalon R, Rouse B, Trefz F, Guttler F, Azen C, Platt L, Waisbren S , Widaman K, Ning J, Friedman EG, de la Cruz F. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics. 2003 Dec;112(6 Pt 2):1523-9.

Guttler F, Azen C, Guldberg P, Romstad A, Hanley WB, Levy HL , Matalon R, Rouse BM, Trefz F, De la Cruz F, Koch R. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics. 2003 Dec;112(6 Pt 2):1530-3.

Levy HL, Waisbren SE , Guttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F, Azen CG, Koch R. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics. 2003 Dec;112(6 Pt 2):1548- 52.

Levy HL . Historical background for the maternal PKU syndrome. Pediatrics. 2003 Dec;112 (6 Pt 2):1516-8.

Mudd SH, Tangerman A, Stabler SP, Allen RH, Wagner C, Zeisel SH, Levy HL . Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four preganancies. J Inherit Metab Dis. 2003;26(5):443-58.

Levy HL . Lessons from the past - looking to the future. Newborn Screening. Pediatr Ann. 2003 Aug;32(8):505-8.

Lee C. Murray MF. Miron PM. Marsden D. Irons M. Wilkins-Haug LE. Morton CC. Clinical picture: Multicolour karyotyping. [Journal Article] Lancet. 357(9264):1240, 2001 Apr 21.

Marsden D, Larson CA . Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. Clin Chem. 2004 Mar;50(3):467- 8.

Mitchell ML. Klein RZ. Sargent JD. Meter RA. Haddow JE. Waisbren SE. Faix JD. Iodine sufficiency and measurements of thyroid function in maternal hypothyroidism. Clinical Endocrinology. 58(5):612-6, 2003 May.

Moeschler JB. Mohandas TK. Hawk AB. Noll WW. Estimate of prevalence of proximal 15q duplication syndrome. American Journal of Medical Genetics. 111(4):440-2, 2002 Sep 1.

Mohandas TK. Park JP. Spellman RA. Filiano JJ. Mamourian AC. Hawk AB. Belloni DR. Noll WW. Moeschler JB. Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay. [Journal Article] American Journal of Medical Genetics. 82(4):294-300, 1999 Feb 12.

Moseley, K., R. Koch, et al. Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet. J Inherit Metab Dis 25(1): 56-64. 2002

Leonard H. Fyfe S. Leonard S. Msall M. Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective. [Journal Article] Disability & Rehabilitation. 23(3-4):107 17, 2001 Feb 15-Mar 10.

Owens JA. Maxim R. Nobile C. McGuinn M. Msall M. Parental and self-report of sleep in children with attention-deficit/hyperactivity disorder.[Journal Article] Archives of Pediatrics & Adolescent Medicine. 154(6):549-55, 2000 June

Msall, M. E. Tools for measuring daily activities in children: promoting independence and developing a language for child disability. Pediatrics 109(2): 317-9. 2002

Msall, M. E. and M. R. Tremont. Measuring functional outcomes after prematurity: Developmental impact of very low birth weight and extremely low birth weight status on childhood disability. Ment Retard Dev Disabil Res Rev 8(4): 258-72. 2002

Dobrowolski SF. Banas RA. Suzow JG. Berkley M. Naylor EW. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. Journal of Molecular Diagnostics. 5(1):42-7, 2003 Feb.

Dobrowolski SF. Angeletti J. Banas RA. Naylor EW. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Molecular Genetics & Metabolism. 78(2):100-7, 2003 Feb.

Resta, R. G. and D. Paul. Historical aspects of medical genetics. Am J Med Genet 115(2): 73-4. 2002

Peipert, Joyce. The Down Syndrome Nutrition Handbook. Journal of Developmental & Behavioral Pediatrics. Vol 24(4):293-294, 2003 Aug.

Puliyanda DP. Harmon WE. Peterschmitt MJ. Irons M. Somers MJ. Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol. 17(4):239-42, 2002 Apr.

Picker JD. Cox GF. Fan YS. Fowler DJ. Weremowicz S. Morton CC. Lee C. Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay. American Journal of Medical Genetics. 110(4):393-6, 2002 Jul 15.

Fowler, D. ,Picker J.J., et al.. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet 359(9306): 628. 2002

Wang SJ. Middleton B. Prosser LA. Bardon CG. Spurr CD. Carchidi PJ. Kittler AF. Goldszer RC. Fairchild DG. Sussman AJ. Kuperman GJ. Bates DW. A cost-benefit analysis of electronic medical records in primary care. American Journal of Medicine. 114(5):397-403, 2003 Apr 1.

Prosser LA, Kuntz KM, Bar-Or A, Weinstein MC. Cost-Effectiveness of Interferon Beta-1b, and Glatiramer Acetate in Newly Diagnosed Non-primary Progressive Multiple Sclerosis. Value Health. 2004 Sep;7(5):554- 68.

Muchova J. Sustrova M. Garaiova I. Liptakova A. Blazicek P. Kvasnicka P. Pueschel S. Durackova Z. Influence of age on activities of antioxidant enzymes and lipid peroxidation products in erythrocytes and neutrophils of Down syndrome patients. [Journal Article] Free Radical Biology & Medicine. 31(4):499-508, 2001 Aug1 5.

Tsiaras WG. Pueschel S. Keller C. Curran R. Giesswein S. Amblyopia and visual acuity in children with Down's syndrome. [Journal Article] British Journal of Ophthalmology. 83(10):1112-4, 1999 Oct.

Read CY. The demands of biochemical genetic disorders: a survey of mothers of children with mitochondrial disease or phenylketonuria. Journal of Pediatric Nursing. 18(3):181-6, 2003 Jun.

Read CY. Pharmacogenomics: an evolving paradigm for drug therapy. MEDSURG Nursing. 11(3):122-4, 2002 Jun.

Read, C. Y. Reproductive decisions of parents of children with metabolic disorders. Clin Genet 61(4): 268-76. 2002

Acosta PB. Yannicelli S. Singh R. Eisas LJ 2nd. Kennedy MJ. Bernstein L. Rohr F. Trahms C. Koch R. Breck J. Intake and blood levels of fatty acids in treated patients with phenylketonuria. Journal of Pediatric Gastroenterology & Nutrition. 33(3):253-9, 2001 Sep.

Acosta PB. Matalon K. Castiglioni L. Rohr FJ. Wenz E. Austin V. Azen C. Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations. American Journal of Clinical Nutrition. 73(4):792-6, 2001 Apr.

Warren SL. Gunnar MR. Kagan J. Anders TF. Simmens SJ. Rones M. Wease S. Aron E. Dahl RE. Sroufe LA. Maternal panic disorder: infant temperament, neurophysiology, and parenting behaviors. Journal of the American Academy of Child & Adolescent Psychiatry. 42(7):814-25, 2003 Jul.

Bellus GA. Spector EB. Speiser PW. Weaver CA. Garber AT. Bryke CR. Israel J. Rosengren SS. Webster MK. Donoghue DJ. Francomano CA. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. [Journal Article] American Journal of Human Genetics. 67(6):1411-21, 2000 Dec.

Yigit S, Estrada E, Bucci K, Hyams J, Rosengren S. Diabetic ketoacidosis secondary to growth hormone treatment in a boy with Prader-Willi syndrome and steatohepatitis. J Pediatr Endocrinol Metab. 2004 Mar;17(3):361-4.

Wood JC. Magera MJ. Rinaldo P. Seashore MR. Strauss AW. Friedman A. Diagnosis of Very Long Chain Acyl-Dehydrogenase Deficiency From an Infant's Newborn Screening Card. [Journal Article] Pediatrics. 108(1):E19, 2001 July.

Garganta C. Seashore MR. Universal screening for congenital hearing loss. [Journal Article] Pediatric Annals. 29(5):302-8, 2000 May.

Seashore MR. Genetic screening and the pediatrician. [Review] [20 refs] [Editorial. Review. Review Literature] Pediatric Annals. 29(5):272-6, 2000 May.

Seashore, MR..Tetrahydrobiopterin and dietary restriction in mild phenylketonuria. N Engl J Med 347(26): 2094-5. 2002

Kelly PJ. Shih VE. Kistler JP. Barron M. Lee H. Mandell R. Furie KL. Low vitamin B6 but not homocyst(e)ine is associated with increased risk of stroke and transient ischemic attack in the era of folic acid grain fortification. Stroke. 34(6):e51-4, 2003 Jun.

Kelly PJ. Furie KL. Kistler JP. Barron M. Picard EH. Mandell R. Shih VE. Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology. 60(2):275-9, 2003 Jan 28.

Kelly PJ. Rosand J. Kistler JP. Shih VE. Silveira S. Plomaritoglou A. Furie KL. Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis. Neurology. 59(4):529-36, 2002 Aug 27.

Dipple KM. Zhang YH. Huang BL. McCabe LL. Dallongeville J. Inokuchi T. Kimura M. Marx HJ. Roederer GO. Shih V. Yamaguchi S. YoshidaÊ I. McCabe ER. Glycerol kinase deficiency: evidence for complexity in a single gene disorder. [Journal Article] Human Genetics. 109(1):55-62, 2001 Jul.

Palmer-Toy DE. Szczepiorkowski ZM. Shih V. Van Cott EM. Compatibility of the Abbott IMx homocysteine assay with citrate-anticoagulated plasma and stability of homocysteine in citrated whole blood. [Journal Article] Clinical Chemistry. 47(9):1704-7, 2001 Sep.Ê

Ovuworie CA. Fox ER. Chow CM. Pascual M. Shih VE. Picard MH. Tolkoff-Rubin NE. Vascular endothelial function in cyclosporine and tacrolimus treated renal transplant recipients1,2. [Journal Article] Transplantation. 72(8):1385-8, 2001 October 27.

Takeoka M. Soman TB. Shih VE. Caviness VS Jr. Krishnamoorthy KS. Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy. [Journal Article] Pediatric Neurology. 24(3):193-9, 2001 Mar.

Huang T. Yang W. Pereira AC. Craigen WJ. Shih VE. Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q. [Journal Article] Biochemical & Biophysical Research Communications. 268(2):298-301, 2000 Feb 16.

Shiloh, Shoshana; Rashuk-Rosenthal, Dana; Benyamini, Yael. Illness causal attributions: An exploratory study of their structure and associations with other illness cognitions and perceptions of control. Journal of Behavioral Medicine. Vol 25(4): 373-394, 2002 Aug.

Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PK, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM. "Evaluation of 3-methylcrotonyl-CoA Carboxylase Deficiency Detected by Tandem Mass Spectrometry Newborn Screening." Journal of Inherited Metabolic Disease. 26(1): 25-35, 2003.

Wax JR, Carpenter M, Smith, WE, Grimes C., Pinette MG, Blackstone J, Cartin A. Second-Trimester Sonograph Diagnosis of Diastrophic Dysplasia: Report of 2 Index Cases" Journal of Ultrasound in Medicine 22:805-808, 2003.

Koeberl D.D., Young S.P., Gregersen N., Vockley J., Smith W. E., Benjamin Jr D.K., Yan A.N., Weavil, S.D., Chiang S.H., Bali D., McDonald M.T., Kishnani P.S., Chen Y.T., Millington D.S. "Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening," Pediatric Research. 54(2):219-23, 2003.

Rutsch F, Ruf N, Vaingankar S, Toliat M, Suk A, Hohne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen J, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko A, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nurnberg P. "Mutations in ENPP1 Cause Idiopathic Infantile Arterial Calcification." Nature Genetics. 34:379-381, 2003.

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson BD, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Ketterling RP, Jalal SM. "Microduplication 22q11.2 - An Emerging Syndrome: Clinical, Cytogenetic, Molecular Cytogenetic and Molecular Analysis of Thirteen Patients." American Journal of Human Genetics. 73(5):1027-1040, 2003.

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Smith WE. Millington DS. Koeberl DD. Lesser PS. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. [Journal Article] Pediatrics. 107(5):1184-7, 2001 May.

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McCabe, L. L., B. L. Therrell, et al. Newborn screening: rationale for a comprehensive, fully integrated public health system. Mol Genet Metab 77(4): 267-73. 2002

Waisbren SE. Read CY. Ampola M. Brewster TG. Demmer L. Greenstein R. Ingham CL. Korson M. Msall M. Pueschel S. Seashore M. Shih VE. Levy HL. New England Consortium of Metabolic Programs. Newborn screening compared to clinical identification of biochemical genetic disorders. Journal of Inherited Metabolic Disease. 25(7):599-600, 2002 Nov.

Brown AS. Fernhoff PM. Waisbren SE. Frazier DM. Singh R. Rohr F. Morris JM. Kenneson A. MacDonald P. Gwinn M. Honein M. Rasmussen SA. Barriers to successful dietary control among pregnant women with phenylketonuria. Genetics in Medicine. 4(2):84-9, 2002 Mar-Apr.

Finkelson L. Bailey I. Waisbren SE. PKU adults and their return to diet: predicting diet continuation and maintenance. [Journal Article]Journal of Inherited Metabolic Disease. 24(4):515-6, 2001 August.

Klein RZ. Sargent JD. Larsen PR. Waisbren SE. Haddow JE. Mitchell ML. Relation of severity of maternal hypothyroidism to cognitive development of offspring. [Journal Article] Journal of Medical Screening. 8(1):18-20, 2001.

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Waisbren SE, Rones M, Read CY, Marsden D, Levy HL. Brief report: predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol. 2004 Oct-Nov;29(7):565-70.

Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress. Obstet Gynecol Surv. 2004 Jun;59(6):415-417.

Waisbren SE, Levy HL. Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18;291(7):820-1.

Waisbren SE, Azen C. Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics. 2003 Dec:112(6 Pt 2):1544-7.

Wilber N. Mitra M. Walker DK. Allen D. Meyers AR. Tupper P. Disability as a public health issue: findings and reflections from the Massachusetts survey of secondary conditions. Milbank Quarterly. 80(2):393-421, 2002.

Al-Aweel I. Pursley DM. Rubin LP. Shah B. Weisberger S. Richardson DK. Variations in prevalence of hypotension, hypertension, and vasopressor use in NICUs. [Evaluation Studies. Journal Article] Journal of Perinatology. 21(5):272-8, 2001 Jul-Aug.

Zuckerman B, Parker S, Kaplan-Sanoff M, Augustyn M, Barth MC. Healthy Steps: a case study of innovation in pediatric practice. Pediatrics. 2004 Sep;114(3):820-6.

Zuckerman B, Sandel M, Smith L, Lawton E. Why pediatricians need lawyers to keep children healthy. Pediatrics. 2004 Jul;114(1):224-8.

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