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Genetic Disease Screening Program (GDSP)    


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Sparks TN, Norton ME, Flessel M, Goldman S, Currier RJ. Observed Rate of Down Syndrome in Twin Pregnancies. Obstet Gynecol. 2016 Nov;128(5):1127-1133. PubMed PMID: 27741202.

Baer RJ, Yang J, Chambers CD, Ryckman KK, Saftlas AF, Berghella V, Schetter CD, Shaw GM, Stevenson DK, Jelliffe-Pawlowski LL. Risk of recurrent preterm birth among women according to change in partner. J Perinat Med. 2016 Oct 8. pii: /j/jpme.ahead-of-print/jpm-2016-0207/jpm-2016-0207.xml. doi: 10.1515/jpm-2016-0207. [Epub ahead of print] PubMed PMID: 27718495.

Yang J, Pearl M, DeLorenze GN, Romero R, Dong Z, Jelliffe-Pawlowski L, Currier R, Flessel M, Kharrazi M. Racial-ethnic differences in midtrimester maternal serum levels of angiogenic and antiangiogenic factors. Am J Obstet Gynecol. 2016 Apr 9. pii: S0002-9378(16)30043-6. doi: 10.1016/j.ajog.2016.04.002. [Epub ahead of print] PubMed PMID: 27073062.

Hinton CF, Homer CJ, Thompson AA, Williams A, Hassell KL, Feuchtbaum L, Berry SA, Comeau AM, Therrell BL, Brower A, Harris KB, Brown C, Monaco J, Ostrander RJ, Zuckerman AE, Kaye C, Dougherty D, Greene C, Green NS; Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).. A framework for assessing outcomes from newborn screening: on the road to measuring its promise. Mol Genet Metab. 2016 Aug;118(4):221-9. doi: 10.1016/j.ymgme.2016.05.017. PubMed PMID: 27268406; PubMed Central PMCID: PMC4970906.

Yang J, Baer RJ, Berghella V, Chambers C, Chung P, Coker T, Currier RJ, Druzin ML, Kuppermann M, Muglia LJ, Norton ME, Rand L, Ryckman K, Shaw GM, Stevenson D, Jelliffe-Pawlowski LL. Recurrence of Preterm Birth and Early Term Birth. Obstet Gynecol. 2016 Aug;128(2):364-72. doi: 10.1097/AOG.0000000000001506. PubMed PMID: 27400000; PubMed Central PMCID: PMC5055875.

Paulukonis ST, Eckman JR, Snyder AB, Hagar W, Feuchtbaum LB, Zhou M, Grant AM, Hulihan MM. Defining Sickle Cell Disease Mortality Using a Population-Based Surveillance System, 2004 through 2008. Public Health Rep. 2016 Mar-Apr;131(2):367-75. PubMed PMID: 26957672; PubMed Central PMCID: PMC4765986.

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Tang H, Feuchtbaum L, Neogi P, Ho T, Gaffney L, Currier RJ. Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California. Genet Med. 2016 Mar;18(3):259-64. doi: 10.1038/gim.2015.154. Epub 2015 Dec 10. PubMed PMID: 26656653.

Schrijver I, Pique L, Graham S, Pearl M, Cherry A, Kharrazi M. The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. J Mol Diagn. 2016 Jan;18(1):39-50. doi: 10.1016/j.jmoldx.2015.07.005. PubMed PMID: 26708955.

Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, Pearl M, Chow H, Ho T, Currier R, Gaffney L, Feuchtbaum L; California Cystic Fibrosis Newborn Screening Consortium. Newborn Screening for Cystic Fibrosis in California. Pediatrics. 2015 Dec;136(6):1062-72. doi: 10.1542/peds.2015-0811. Epub 2015 Nov 16. PubMed PMID: 26574590.

Adibi JJ, Lee MK, Saha S, Boscardin WJ, Apfel A, Currier RJ. Fetal sex differences in human chorionic gonadotropin fluctuate by maternal race, age, weight and by gestational age. J Dev Orig Health Dis. 2015 Aug 5:1-8. [Epub ahead of print] PubMed PMID: 26242396.

Jelliffe-Pawlowski LL, Baer RJ, Blumenfeld YJ, Ryckman KK, O'Brodovich HM, Gould JB, Druzin ML, El-Sayed YY, Lyell DJ, Stevenson DK, Shaw GM, Currier RJ. Maternal characteristics and mid-pregnancy serum biomarkers as risk factors for subtypes of preterm birth. BJOG. 2015 Jun 26. doi: 10.1111/1471-0528.13495. [Epub ahead of print] PubMed PMID: 26111589.

Baer RJ, Currier RJ, Norton ME, Flessel MC, Goldman S, Towner D, Jelliffe-Pawlowski LL. Outcomes of pregnancies with more than one positive prenatal screening result in the first or second trimester. Prenat Diagn. 2015 Aug 19. doi: 10.1002/pd.4682. [Epub ahead of print] PubMed PMID: 26288069.

Lyell DJ, Faucett AM, Baer RJ, Blumenfeld YJ, Druzin ML, El-Sayed YY, Shaw GM, Currier RJ, Jelliffe-Pawlowski LL. Maternal serum markers, characteristics and morbidly adherent placenta in women with previa. J Perinatol. 2015 Apr 30. doi: 10.1038/jp.2015.40. [Epub ahead of print] PubMed PMID: 25927270.

Baer RJ, Chambers CD, Jones KL, Shew SB, MacKenzie TC, Shaw GM, Jelliffe-Pawlowski LL. Maternal factors associated with the occurrence of gastroschisis. Am J Med Genet A. 2015 Jul;167(7):1534-41. doi: 10.1002/ajmg.a.37016. Epub 2015 Apr 25. PubMed PMID: 25913847.

Valle J, Roberts E, Paulukonis S, Collins N, English P, Kaye W. Epidemiology and surveillance of amyotrophic lateral sclerosis in two large metropolitan areas in California. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Jun;16(3-4):209-15. doi: 10.3109/21678421.2015.1019516. Epub 2015 Mar 30. PubMed PMID: 25822003.

Jelliffe-Pawlowski LL, Baer RJ, Currier RJ, Lyell DJ, Blumenfeld YJ, El-Sayed YY, Shaw GM, Druzin ML. Early-onset severe preeclampsia by first trimester pregnancy-associated plasma protein a and total human chorionic gonadotropin. Am J Perinatol. 2015 Jun;32(7):703-12. doi: 10.1055/s-0034-1396697. Epub 2014 Dec 17. PubMed PMID: 25519199.

Catalano RA, Currier RJ, Steinsaltz D. Hormonal evidence of selection in utero revisited. Am J Hum Biol. 2015 May 6;27(3):426-31. doi: 10.1002/ajhb.22655. Epub 2014 Nov 8. PubMed PMID: 25382092.

Jelliffe-Pawlowski LL, Norton ME, Shaw GM, Baer RJ, Flessel MC, Goldman S, Currier RJ. Risk of critical congenital heart defects by nuchal translucency norms. Am J Obstet Gynecol. 2015 Apr;212(4):518.e1-10. doi: 10.1016/j.ajog.2014.10.1102. Epub 2014 Oct 30. PubMed PMID: 25448520.

Rosenthal NA, Currier RJ, Baer RJ, Feuchtbaum L, Jelliffe-Pawlowski LL. Undiagnosed metabolic dysfunction and sudden infant death syndrome--a case-control study. Paediatr Perinat Epidemiol. 2015 Mar;29(2):151-5. doi: 10.1111/ppe.12175. Epub 2015 Feb 16. PubMed PMID: 25689231.

Hulihan MM, Feuchtbaum L, Jordan L, Kirby RS, Snyder A, Young W, Greene Y, Telfair J, Wang Y, Cramer W, Werner EM, Kenney K, Creary M, Grant AM. State-based surveillance for selected hemoglobinopathies. Genet Med. 2015 Feb;17(2):125-30. doi: 10.1038/gim.2014.81. Epub 2014 Jul 3. PubMed PMID: 24991875; PubMed Central PMCID: PMC4427044.

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Paulukonis ST, Harris WT, Coates TD, Neumayr L, Treadwell M, Vichinsky E, Feuchtbaum LB. Population based surveillance in sickle cell disease: methods, findings and implications from the California registry and surveillance system in hemoglobinopathies project (RuSH). Pediatr Blood Cancer. 2014 Dec;61(12):2271-6. doi: 10.1002/pbc.25208. Epub 2014 Aug 30. PubMed PMID: 25176145.

Hall PL, Marquardt G, McHugh DM, Currier RJ, Tang H, Stoway SD, Rinaldo P. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med. 2014 Dec;16(12):889-95. doi: 10.1038/gim.2014.62. Epub 2014 May 29. PubMed PMID: 24875301; PubMed Central PMCID: PMC4262759.

Baer RJ, Norton ME, Shaw GM, Flessel MC, Goldman S, Currier RJ, Jelliffe-Pawlowski LL. Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Am J Obstet Gynecol. 2014 Dec;211(6):675.e1-19. doi: 10.1016/j.ajog.2014.06.025. Epub 2014 Jun 17. PubMed PMID: 24949541.

Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol. 2014 Nov;124(5):979-86. doi: 10.1097/AOG.0000000000000452. PubMed PMID: 25437727.

Taché V, Baer RJ, Currier RJ, Li CS, Towner D, Waetjen LE, Jelliffe-Pawlowski LL. Population-based biomarker screening and the development of severe preeclampsia in California. Am J Obstet Gynecol. 2014 Oct;211(4):377.e1-8. doi: 10.1016/j.ajog.2014.03.026. Epub 2014 Mar 14. PubMed PMID: 24631701; PubMed Central PMCID: PMC4393821.

Hoffmann TJ, Shaw GM, Stevenson DK, Wang H, Quaintance CC, Oehlert J, Jelliffe-Pawlowski LL, Gould JB, Witte JS, O'Brodovich HM. Copy number variation in bronchopulmonary dysplasia. Am J Med Genet A. 2014 Oct;164A(10):2672-5. doi: 10.1002/ajmg.a.36659. Epub 2014 Jun 26. PubMed PMID: 24975634; PubMed Central PMCID: PMC4167221.

Sartippour MR, Doroudian R, Frampton G, Lorey F, Helmer G, Ho T, Bhandal A. Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots. Clin Chim Acta. 2014 Sep 25;436:298-302. doi: 10.1016/j.cca.2014.06.011. Epub 2014 Jun 25. PubMed PMID: 24973740.

Yau VM, Green PG, Alaimo CP, Yoshida CK, Lutsky M, Windham GC, Delorenze G, Kharrazi M, Grether JK, Croen LA. Prenatal and neonatal peripheral blood mercury levels and autism spectrum disorders. Environ Res. 2014 Aug;133:294-303. doi: 10.1016/j.envres.2014.04.034. Epub 2014 Jun 28. Erratum in: Environ Res. 2014 Oct;134:454. PubMed PMID: 24981828.

Ryckman KK, Smith CJ, Jelliffe-Pawlowski LL, Momany AM, Berberich SL, Murray JC. Metabolic heritability at birth: implications for chronic disease research. Hum Genet. 2014 Aug;133(8):1049-57. doi: 10.1007/s00439-014-1450-4. Epub 2014 May 22. PubMed PMID: 24850141; PubMed Central PMCID: PMC4102629.

Jelliffe-Pawlowski LL, Ryckman KK, Bedell B, O'Brodovich HM, Gould JB, Lyell DJ, Borowski KS, Shaw GM, Murray JC, Stevenson DK. Combined elevated midpregnancy tumor necrosis factor alpha and hyperlipidemia in pregnancies resulting in early preterm birth. Am J Obstet Gynecol. 2014 Aug;211(2):141.e1-9. doi: 10.1016/j.ajog.2014.02.019. Epub 2014 May 13. PubMed PMID: 24831886; PubMed Central PMCID: PMC4117727.

Blumenfeld YJ, Baer RJ, Druzin ML, El-Sayed YY, Lyell DJ, Faucett AM, Shaw GM, Currier RJ, Jelliffe-Pawlowski LL. Association between maternal characteristics, abnormal serum aneuploidy analytes, and placental abruption. Am J Obstet Gynecol. 2014 Aug;211(2):144.e1-9. doi: 10.1016/j.ajog.2014.03.027. Epub 2014 Mar 14. PubMed PMID: 24631707.

Hinton CF, Mai CT, Nabukera SK, Botto LD, Feuchtbaum L, Romitti PA, Wang Y, Piper KN, Olney RS. Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings. Genet Med. 2014 Jun;16(6):484-90. doi: 10.1038/gim.2013.177. Epub 2013 Dec 5. PubMed PMID: 24310309.

Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Mol Genet Metab. 2014 Apr;111(4):484-92. doi: 10.1016/j.ymgme.2014.01.009. Epub 2014 Jan 23. PubMed PMID: 24503138.

Baer RJ, Currier RJ, Norton ME, Flessel MC, Goldman S, Towner D, Jelliffe-Pawlowski LL. Obstetric, perinatal, and fetal outcomes in pregnancies with false-positive integrated screening results. Obstet Gynecol. 2014 Mar;123(3):603-9. doi: 10.1097/AOG.0000000000000145. PubMed PMID: 24499760.

Hicks RA, Yee JK, Mao CS, Graham S, Kharrazi M, Lorey F, Lee WP. Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia. Metabolomics. 2014 Feb 1;10(1):123-131. PubMed PMID: 24489528; PubMed Central PMCID: PMC3904458.

Guendelman S, Goodman J, Kharrazi M, Lahiff M. Work-family balance after childbirth: the association between employer-offered leave characteristics and maternity leave duration. Matern Child Health J. 2014 Jan;18(1):200-8. doi: 10.1007/s10995-013-1255-4. PubMed PMID: 23504130.

Barradas DT, Dietz PM, Pearl M, England LJ, Callaghan WM, Kharrazi M. Validation of obstetric estimate using early ultrasound: 2007 California birth certificates. Paediatr Perinat Epidemiol. 2014 Jan;28(1):3-10. doi: 10.1111/ppe.12083. Epub 2013 Oct 10. PubMed PMID: 24117928.

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Yang J, Pearl M, Jacob P 3rd, DeLorenze GN, Benowitz NL, Yu L, Havel C, Kharrazi M. Levels of cotinine in dried blood specimens from newborns as a biomarker of maternal smoking close to the time of delivery. Am J Epidemiol. 2013 Dec 1;178(11):1648-54. doi: 10.1093/aje/kwt182. Epub 2013 Sep 25. PubMed PMID: 24068198; PubMed Central PMCID: PMC3842901.

Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA. Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. Mol Genet Metab. 2013 Dec;110(4):477-83. doi: 10.1016/j.ymgme.2013.09.006. Epub 2013 Sep 17. PubMed PMID: 24103308.

Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, Pian M, Opsimos H, Otsuka KN, Hardy KA, Milla CE, Zirbes JM, Chipps B, O'Bra S, Saeed MM, Sudhakar R, Lehto S, Nielson D, Shay GF, Seastrand M, Jhawar S, Nickerson B, Landon C, Thompson A, Nussbaum E, Chin T, Wojtczak H; California Cystic Fibrosis Newborn Screening Consortium. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28. PubMed PMID: 23810505.

Wang H, St Julien KR, Stevenson DK, Hoffmann TJ, Witte JS, Lazzeroni LC, Krasnow MA, Quaintance CC, Oehlert JW, Jelliffe-Pawlowski LL, Gould JB, Shaw GM, O'Brodovich HM. A genome-wide association study (GWAS) for bronchopulmonary dysplasia. Pediatrics. 2013 Aug;132(2):290-7. doi: 10.1542/peds.2013-0533. Epub 2013 Jul 29. PubMed PMID: 23897914; PubMed Central PMCID: PMC3727675.

Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013 Jul;132(1):140-50. doi: 10.1016/j.jaci.2013.04.024. PubMed PMID: 23810098; PubMed Central PMCID: PMC3759317.

Jelliffe-Pawlowski LL, Shaw GM, Currier RJ, Stevenson DK, Baer RJ, O'Brodovich HM, Gould JB. Association of early-preterm birth with abnormal levels of routinely collected first- and second-trimester biomarkers. Am J Obstet Gynecol. 2013 Jun;208(6):492.e1-11. doi: 10.1016/j.ajog.2013.02.012. Epub 2013 Feb 24. PubMed PMID: 23395922; PubMed Central PMCID: PMC3672244.

Tsang KM, Croen LA, Torres AR, Kharrazi M, Delorenze GN, Windham GC, Yoshida CK, Zerbo O, Weiss LA. A genome-wide survey of transgenerational genetic effects in autism. PLoS One. 2013 Oct 24;8(10):e76978. doi: 10.1371/journal.pone.0076978. eCollection 2013. PubMed PMID: 24204716; PubMed Central PMCID: PMC3811986.

St Julien KR, Jelliffe-Pawlowski LL, Shaw GM, Stevenson DK, O'Brodovich HM, Krasnow MA; Stanford BPD Study Group. High quality genome-wide genotyping from archived dried blood spots without DNA amplification. PLoS One. 2013 May 30;8(5):e64710. doi: 10.1371/journal.pone.0064710. Print 2013. PubMed PMID: 23737996; PubMed Central PMCID: PMC3667813.

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Feuchtbaum L, Carter J, Dowray S, Currier RJ, Lorey F. Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genet Med. 2012 Nov;14(11):937-45. doi: 10.1038/gim.2012.76. Epub 2012 Jul 5. PubMed PMID: 22766612.

Currier R, Wu N, Van Meter K, Goldman S, Lorey F, Flessel M. Integrated and first trimester prenatal screening in California: program implementation and patient choice for follow-up services. Prenat Diagn. 2012 Nov;32(11):1077-83. doi: 10.1002/pd.3961. Epub 2012 Aug 18. PubMed PMID: 22903386.

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. PubMed PMID: 22424739.

Wu N, Platt LD, Greene N, Currier RJ. Practitioner-specific medians for nuchal translucency to improve first-trimester screening performance. Obstet Gynecol. 2012 Apr;119(4):785-94. doi: 10.1097/AOG.0b013e31824be8f5. PubMed PMID: 22433342.

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Dhillon K, Ho T, Rich P, Xu D, Lorey F, She J, Bhandal A. An automated method on analysis of blood steroids using liquid chromatography tandem mass spectrometry: application to population screening for congenital adrenal hyperplasia in newborns. Clin Chim Acta. 2011 Nov 20;412(23-24):2076-84. doi: 10.1016/j.cca.2011.07.009. Epub 2011 Jul 23. PubMed PMID: 21803033.

Hinton CF, Feuchtbaum L, Kus CA, Kemper AR, Berry SA, Levy-Fisch J, Luedtke J, Kaye C, Boyle CA. What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med. 2011 Oct;13(10):861-5. doi: 10.1097/GIM.0b013e3182209f09. PubMed PMID: 21716119.

Kazerouni NN, Currier RJ, Flessel M, Goldman S, Hennigan C, Hodgkinson C, Lorey F, Malm L, Tempelis C, Roberson M. Detection rate of quadruple-marker screening determined by clinical follow-up and registry data in the statewide California program, July 2007 to February 2009. Prenat Diagn. 2011 Sep;31(9):901-6. doi: 10.1002/pd.2802. Epub 2011 Jun 27. PubMed PMID: 21706514.

Flessel MC, Lorey FW.The California Prenatal Screening Program: "options and choices" not "coercion and eugenics". Genet Med. 2011 Aug;13(8):711-3. doi: 10.1097/GIM.0b013e3182272e25. PubMed PMID: 21753732.

Lin HJ, Kwong AM, Carter JM, Ferreira BF, Austin MF, Devarajan K, Coleman RJ, Feuchtbaum LB, Lorey F, Jonas AJ. Extremely high phenylalanine levels in a newborn on parenteral nutrition: phenylketonuria in the neonatal intensive care unit. J Perinatol. 2011 Jul;31(7):507-10. doi: 10.1038/jp.2010.207. Review. PubMed PMID: 21712831.

Dhillon KS, Bhandal AS, Aznar CP, Lorey FW, Neogi P. Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process. Clin Chim Acta. 2011 May 12;412(11-12):873-9. doi: 10.1016/j.cca.2010.12.028. Epub 2011 Jan 7. PubMed PMID: 21216241.

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Feuchtbaum L, Dowray S, Lorey F. The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings. Genet Med. 2010 Dec;12(12 Suppl):S242-50. doi: 10.1097/GIM.0b013e3181fe5d66. PubMed PMID: 21150370.

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Croen LA, Braunschweig D, Haapanen L, Yoshida CK, Fireman B, Grether JK, Kharrazi M, Hansen RL, Ashwood P, Van de Water J. Maternal mid-pregnancy autoantibodies to fetal brain protein: the early markers for autism study. Biol Psychiatry. 2008 Oct 1;64(7):583-8. doi: 10.1016/j.biopsych.2008.05.006. Epub 2008 Jun 20. PubMed PMID: 18571628; PubMed Central PMCID: PMC2574992.

Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn. 2008 Jul;10(4):368-75. doi: 10.2353/jmoldx.2008.080004. Epub 2008 Jun 13. PubMed PMID: 18556774; PubMed Central PMCID: PMC2438207.

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Wier ML, Pearl M, Kharrazi M. Gestational age estimation on United States livebirth certificates: a historical overview. Paediatr Perinat Epidemiol. 2007 Sep;21 Suppl 2:4-12. Review. PubMed PMID: 17803613.

Pearl M, Wier ML, Kharrazi M. Assessing the quality of last menstrual period date on California birth records. Paediatr Perinat Epidemiol. 2007 Sep;21 Suppl 2:50-61. PubMed PMID: 17803618.

Feuchtbaum L, Cunningham G, Sciortino S. Questioning the Need for Informed Consent: A Case Study of California's Experience with a Pilot Newborn Screening Research Project. J Empir Res Hum Res Ethics. 2007 Sep;2(3):3-14. doi: 10.1525/jer.2007.2.3.3. PubMed PMID: 19385846.

Dietz PM, England LJ, Callaghan WM, Pearl M, Wier ML, Kharrazi M. A comparison of LMP-based and ultrasound-based estimates of gestational age using linked California livebirth and prenatal screening records. Paediatr Perinat Epidemiol. 2007 Sep;21 Suppl 2:62-71. PubMed PMID: 17803619.

Towner D, Currier RJ, Lorey FW, Cunningham GC, Greve LC. Miscarriage risk from amniocentesis performed for abnormal maternal serum screening. Am J Obstet Gynecol. 2007 Jun;196(6):608.e1-5; discussion 608.e5. PubMed PMID: 17547917.

Craig WY, Haddow JE, Palomaki GE, Roberson M. Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). Prenat Diagn. 2007 May;27(5):409-14. PubMed PMID: 17286308.

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Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab. 2006 Sep-Oct;89(1-2):134-8. Epub 2006 Apr 27. PubMed PMID: 16644258.

Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S. Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening. Genet Med. 2006 Sep;8(9):557-62. PubMed PMID: 16980811.

Hoppe C, Watson RM, Long CM, Lorey F, Robles L, Klitz W, Styles L, Vichinsky E. Prevalence of HFE mutations in California newborns. Pediatr Hematol Oncol. 2006 Sep;23(6):507-16. PubMed PMID: 16849282.

Craig WY, Haddow JE, Palomaki GE, Kelley RI, Kratz LE, Shackleton CH, Marcos J, Stephen Tint G, MacRae AR, Nowaczyk MJ, Kloza EM, Irons MB, Roberson M. Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn. 2006 Sep;26(9):842-9. PubMed PMID: 16832833.

Feuchtbaum L, Faulkner L, Verghese S. Tandem mass spectrometry program implementation challenges for state newborn screening programs: national survey of barriers and issues. Pediatrics. 2006 May;117(5 Pt 2):S253-60. PubMed PMID: 16735251.

Feuchtbaum L, Cunningham G. Economic evaluation of tandem mass spectrometry screening in California. Pediatrics. 2006 May;117(5 Pt 2):S280-6. PubMed PMID: 16735254.

Feuchtbaum L, Lorey F, Faulkner L, Sherwin J, Currier R, Bhandal A, Cunningham G. California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry. Pediatrics. 2006 May;117(5 Pt 2):S261-9. PubMed PMID: 16735252.

Buffler PA, Kelsh MA, Lau EC, Edinboro CH, Barnard JC, Rutherford GW, Daaboul JJ, Palmer L, Lorey FW. Thyroid function and perchlorate in drinking water: an evaluation among California newborns, 1998. Environ Health Perspect. 2006 May;114(5):798-804. PubMed PMID: 16675440; PubMed Central PMCID: PMC1459939.

Guendelman S, Pearl M, Graham S, Angulo V, Kharrazi M. Utilization of pay-in antenatal leave among working women in Southern California. Matern Child Health J. 2006 Jan;10(1):63-73. PubMed PMID: 16498528.

Faulkner LA, Feuchtbaum LB, Graham S, Bolstad JP, Cunningham GC. The newborn screening educational gap: what prenatal care providers do compared with what is expected. Am J Obstet Gynecol. 2006 Jan;194(1):131-7. PubMed PMID: 16389022.

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Vichinsky EP, MacKlin EA, Waye JS, Lorey F, Olivieri NF. Changes in the epidemiology of thalassemia in North America: a new minority disease. Pediatrics. 2005 Dec;116(6):e818-25. Epub 2005 Nov 15. PubMed PMID: 16291734.

Kharrazi M, Kharrazi LD. Delayed diagnosis of cystic fibrosis and the family perspective. J Pediatr. 2005 Sep;147(3 Suppl):S21-5. PubMed PMID: 16202777.

Won RH, Currier RJ, Lorey F, Towner DR. The timing of demise in fetuses with trisomy 21 and trisomy 18. Prenat Diagn. 2005 Jul;25(7):608-11. PubMed PMID: 16032775.

Bhardwaj U, Zhang YH, Lorey F, McCabe LL, McCabe ER. Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations. Am J Hematol. 2005 Apr;78(4):249-55. PubMed PMID: 15795925.

Lorey F. Diagnosis and management of alpha thalassemia disorders. Ann N Y Acad Sci. 2005;1054:514-5. PubMed PMID: 16339710.

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Kharrazi M, DeLorenze GN, Kaufman FL, Eskenazi B, Bernert JT Jr, Graham S, Pearl M, Pirkle J. Environmental tobacco smoke and pregnancy outcome. Epidemiology. 2004 Nov;15(6):660-70. PubMed PMID: 15475714.

Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, Wilfond BS; CDC. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004 Oct 15;53(RR-13):1-36. Review. PubMed PMID: 15483524.

Alper OM, Wong LJ, Young S, Pearl M, Graham S, Sherwin J, Nussbaum E, Nielson D, Platzker A, Davies Z, Lieberthal A, Chin T, Shay G, Hardy K, Kharrazi M. Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. Hum Mutat. 2004 Oct;24(4):353. Erratum in: Hum Mutat. 2005 Feb;25(2):223. PubMed PMID: 15365999.

Richardson DB, Wing S, Lorey F, Hertz-Picciotto I. Adult hemoglobin levels at birth and risk of sudden infant death syndrome. Arch Pediatr Adolesc Med. 2004 Apr;158(4):366-71. PubMed PMID: 15066877.

Palomaki GE, Knight GJ, Roberson MM, Cunningham GC, Lee JE, Strom CM, Pandian R. Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of an observational study on fresh samples. Clin Chem. 2004 Jan;50(1):182-9. PubMed PMID: 14709646.

Kelsh MA, Buffler PA, Daaboul JJ, Rutherford GW, Lau EC, Barnard JC, Exuzides AK, Madl AK, Palmer LG, Lorey FW. Primary congenital hypothyroidism, newborn thyroid function, and environmental perchlorate exposure among residents of a Southern California community. J Occup Environ Med. 2003 Oct;45(10):1116-27. Erratum in: J Occup Environ Med. 2004 May;46(5):509. PubMed PMID: 14534454.

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English PB, Kharrazi M, Davies S, Scalf R, Waller L, Neutra R. Changes in the spatial pattern of low birth weight in a southern California county: the role of individual and neighborhood level factors. Soc Sci Med. 2003 May;56(10):2073-88. PubMed PMID: 12697198.

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DeLorenze GN, Kharrazi M, Kaufman FL, Eskenazi B, Bernert JT. Exposure to environmental tobacco smoke in pregnant women: the association between self-report and serum cotinine. Environ Res. 2002 Sep;90(1):21-32. PubMed PMID: 12359187.

Crawford DC, Caggana M, Harris KB, Lorey F, Nash C, Pass KA, Tempelis C, Olney RS. Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS. Genet Med. 2002 Sep-Oct;4(5):328-35. PubMed PMID: 12394345.

Kaufman FL, Kharrazi M, Delorenze GN, Eskenazi B, Bernert JT. Estimation of environmental tobacco smoke exposure during pregnancy using a single question on household smokers versus serum cotinine. J Expo Anal Environ Epidemiol. 2002 Jul;12(4):286-95. PubMed PMID: 12087435.

Steinberg K, Beck J, Nickerson D, Garcia-Closas M, Gallagher M, Caggana M, Reid Y, Cosentino M, Ji J, Johnson D, Hayes RB, Earley M, Lorey F, Hannon H, Khoury MJ, Sampson E. DNA banking for epidemiologic studies: a review of current practices. Epidemiology. 2002 May;13(3):246-54. PubMed PMID: 11964924.

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Young SS, Kharrazi M, Pearl M, Cunningham G. Cystic fibrosis screening in newborns: results from existing programs. Curr Opin Pulm Med. 2001 Nov;7(6):427-33. Review. PubMed PMID: 11706321.

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Feuchtbaum LB, Currier RJ, Lorey FW, Cunningham GC. Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18: the California experience. Prenat Diagn. 2000 Apr;20(4):293-9. PubMed PMID: 10740201.

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Feuchtbaum LB, Currier RJ, Riggle S, Roberson M, Lorey FW, Cunningham GC. Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity. Genet Test. 1999;3(3):265-72. PubMed PMID: 10495925.

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Waller DK, Lustig LS, Cunningham GC, Feuchtbaum LB, Hook EB. The association between maternal serum alpha-fetoprotein and preterm birth, small for gestational age infants, preeclampsia, and placental complications. Obstet Gynecol. 1996 Nov;88(5):816-22. PubMed PMID: 8885920.

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Feuchtbaum LB, Cunningham G, Waller DK, Lustig LS, Tompkinson DG, Hook EB. Fetal karyotyping for chromosome abnormalities after an unexplained elevated maternal serum alpha-fetoprotein screening. Obstet Gynecol. 1995 Aug;86(2):248-54. PubMed PMID: 7542378.

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Platt LD, Feuchtbaum L, Filly R, Lustig L, Simon M, Cunningham GC. The California Maternal Serum alpha-Fetoprotein Screening Program: the role of ultrasonography in the detection of spina bifida. Am J Obstet Gynecol. 1992 May;166(5):1328-9. PubMed PMID: 1375810.

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