Genetic Disease Screening Program

Publications

By Year

2024

McGarry ME, Sciortino S, Graham S, Bishop T, Gibb ER. Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities. Pediatr Pulmonol. 2024 Nov;59(11):2901-2909. doi: 10.1002/ppul.27155. Epub 2024 Jun 28. PMID: 38940324; PMCID: PMC11784347.
Sciortino S, Graham S, Bishop T, Matteson J, Carter S, Wu CH, Sharma R. Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing. Int J Neonatal Screen. 2024 Nov 22;10(4):76. doi: 10.3390/ijns10040076. PMID: 39584999; PMCID: PMC11627160.
Sciortino S, Graham S, Bishop T. Diagnostic Transitions of Cystic Fibrosis and CRMS Compared After 12 Years of Newborn Screening in California. J Pediatr. 2025 Jan;276:114287. doi: 10.1016/j.jpeds.2024.114287. Epub 2024 Sep 2. PMID: 39233118.

2023

Sciortino S, Graham S, Fillman T, Kandasamy H, Cooley R, Hanson C, Eckert V, Tang H, Yang J, Seftel D, Tsai CT, Robinson P. Shadow of a Pandemic: Persistence of Prenatal SARS-CoV-2 Antibodies in Newborn Blood Spots. Int J Neonatal Screen. 2023 Aug 2;9(3). doi: 10.3390/ijns9030043. PubMed PMID: 37606480; PubMed Central PMCID: PMC10443380.
Fillman T, Matteson J, Tang H, Mathur D, Zahedi R, Sen I, Bishop T, Neogi P, Feuchtbaum L, Olney RS, Sciortino S. First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California. J Pediatr. 2023 Jul 28;263:113644. doi: 10.1016/j.jpeds.2023.113644. [Epub ahead of print] PubMed PMID: 37516270.

2022

Mai CT, Evans J, Alverson CJ, Yue X, Flood T, Arnold K, Nestoridi E, Denson L, Adisa O, Moore CA, Nance A, Zielke K, Rice S, Shan X, Dean JH, Ethen M, Hansen B, Isenburg J, Kirby RS. Changes in Spina Bifida Lesion Level after Folic Acid Fortification in the US. J Pediatr. 2022 Oct;249:59-66.e1. doi: 10.1016/j.jpeds.2022.06.023. Epub 2022 Jun 27. PubMed PMID: 35772508; PubMed Central PMCID: PMC10250025.
Delaney A, Olson SM, Roth NM, Cragan JD, Godfred-Cato S, Smoots AN, Fornoff J, Nestoridi E, Eckert V, Forkner A, Stolz A, Crawford K, Cho SJ, Elmore A, Langlois P, Nance A, Denson L, Forestieri N, Leedom VO, Tran T, Valencia-Prado M, Romitti P, Barton JE, St John K, Mann S, Orantes L, DeWilde L, Tong VT, Gilboa SM, Moore CA, Honein MA. Prevalence of individual brain and eye defects potentially related to Zika virus in pregnancy in 22 U.S. states and territories, January 2016 to June 2017. Birth Defects Res. 2022 Aug 15;114(14):805-811. doi: 10.1002/bdr2.2067. Epub 2022 Jul 30. PubMed PMID: 35906998; PubMed Central PMCID: PMC10391873.
Griffin I, Woodworth KR, Galang RR, Burkel VK, Neelam V, Siebman S, Barton J, Manning SE, Aveni K, Longcore ND, Harvey EM, Ngo V, Mbotha D, Chicchelly S, Lush M, Eckert V, Dzimira P, Sokale A, Valencia-Prado M, Azziz-Baumgartner E, MacNeil A, Gilboa SM, Tong VT. Recurrent SARS-CoV-2 RNA Detection after COVID-19 Illness Onset during Pregnancy. Emerg Infect Dis. 2022 Apr;28(4):873-876. doi: 10.3201/eid2804.212354. Epub 2022 Feb 25. PubMed PMID: 35213801; PubMed Central PMCID: PMC8962892.
Raraigh KS, Paul KC, Goralski JL, Worthington EN, Faino AV, Sciortino S, Wang Y, Aksit MA, Ling H, Osorio DL, Onchiri FM, Patel SU, Merlo CA, Montemayor K, Gibson RL, West NE, Thakerar A, Bridges RJ, Sheppard DN, Sharma N, Cutting GR. CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor. JCI Insight. 2022 Mar 22;7(6). doi: 10.1172/jci.insight.148841. PubMed PMID: 35315358; PubMed Central PMCID: PMC8986068.
Stallings EB, Isenburg JL, Aggarwal D, Lupo PJ, Oster ME, Shephard H, Liberman RF, Kirby RS, Nestoridi E, Hansen B, Shan X, Navarro Sanchez ML, Boyce A, Heinke D. Prevalence of critical congenital heart defects and selected co-occurring congenital anomalies, 2014-2018: A U.S. population-based study. Birth Defects Res. 2022 Jan 15;114(2):45-56. doi: 10.1002/bdr2.1980. Epub 2022 Jan 19. PubMed PMID: 35048540; PubMed Central PMCID: PMC8915134.
Matteson J, Wu CH, Mathur D, Tang H, Sciortino S, Feuchtbaum L, Bishop T, Sharma SC, Neogi P, Fitzgibbon I, Olney RS. California's experience with SMA newborn screening: A successful path to early intervention. J Neuromuscul Dis. 2022;9(6):777-785. doi: 10.3233/JND-221561. PubMed PMID: 36278357.

2021

Matteson J, Sciortino S, Feuchtbaum L, Bishop T, Olney RS, Tang H. Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up. Int J Neonatal Screen. 2021 Apr 17;7(2). doi: 10.3390/ijns7020022. PubMed PMID: 33920672; PubMed Central PMCID: PMC8167547.

2020

Tang H, Matteson J, Rinaldo P, Tortorelli S, Currier R, Sciortino S. The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California. Int J Neonatal Screen. 2020 Sep;6(3):62. doi: 10.3390/ijns6030062. eCollection 2020 Sep. PubMed PMID: 33123639; PubMed Central PMCID: PMC7570356.
Tang H, Feuchtbaum L, Sciortino S, Matteson J, Mathur D, Bishop T, Olney RS. The First Year Experience of Newborn Screening for Pompe Disease in California. Int J Neonatal Screen. 2020 Mar;6(1):9. doi: 10.3390/ijns6010009. eCollection 2020 Mar. PubMed PMID: 33073007; PubMed Central PMCID: PMC7422988.
Louden AR, Suhl J, Kancherla V, Caspers Conway KM, Makelarski J, Howley MM, Hoyt AT, Olney RS, Olshan AF, Romitti PA. Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997-2011. Birth Defects Res. 2020 Mar;112(5):427-439. doi: 10.1002/bdr2.1656. Epub 2020 Feb 27. PubMed PMID: 32104984; PubMed Central PMCID: PMC7099604.
Smoots AN, Olson SM, Cragan J, Delaney A, Roth NM, Godfred-Cato S, Jones AM, Nahabedian JF 3rd, Fornoff J, Sandidge T, Yazdy MM, Higgins C, Olney RS, Eckert V, Forkner A, Fox DJ, Stolz A, Crawford K, Cho SJ, Knapp M, Ahmed MF, Lake-Burger H, Elmore AL, Langlois P, Breidenbach R, Nance A, Denson L, Caton L, Forestieri N, Bergman K, Humphries BK, Leedom VO, Tran T, Johnston J, Valencia-Prado M, Pérez-González S, Romitti PA, Fall C, Bryan JM, Barton J, Arias W, St John K, Mann S, Kimura J, Orantes L, Martin B, de Wilde L, Ellis EM, Song Z, Akosa A, Goodroe C, Ellington SR, Tong VT, Gilboa SM, Moore CA, Honein MA. Population-Based Surveillance for Birth Defects Potentially Related to Zika Virus Infection - 22 States and Territories, January 2016-June 2017. MMWR Morb Mortal Wkly Rep. 2020 Jan 24;69(3):67-71. doi: 10.15585/mmwr.mm6903a3. PubMed PMID: 31971935; PubMed Central PMCID: PMC7367037.

2019

Amatuni GS, Sciortino S, Currier RJ, Naides SJ, Church JA, Puck JM. Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects. J Allergy Clin Immunol. 2019 Dec;144(6):1674-1683. doi: 10.1016/j.jaci.2019.05.038. Epub 2019 Jun 18. PubMed PMID: 31220471; PubMed Central PMCID: PMC6900445.
Radke T, Paulukonis S, Hulihan MM, Feuchtbaum L. Providers' Perspectives on Treating Patients With Thalassemia. J Pediatr Hematol Oncol. 2019 Oct;41(7):e421-e426. doi: 10.1097/MPH.0000000000001573. PubMed PMID: 31368920; PubMed Central PMCID: PMC8340074.
Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics. 2019 Feb;143(2). doi: 10.1542/peds.2018-2300. PubMed PMID: 30683812; PubMed Central PMCID: PMC6361357.

2018

Feuchtbaum L, Yang J, Currier R. Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel. Genet Med. 2018 Aug;20(8):831-839. doi: 10.1038/gim.2017.199. Epub 2017 Dec 7. PubMed PMID: 29215646.
Johnston J, Lantos JD, Goldenberg A, Chen F, Parens E, Koenig BA. Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies. Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S2-S6. doi: 10.1002/hast.874. PubMed PMID: 30133723; PubMed Central PMCID: PMC6901349.
Currier RJ. Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hope. Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S37-S38. doi: 10.1002/hast.883. PubMed PMID: 30133731; PubMed Central PMCID: PMC6886879.
Waller DK, Hashmi SS, Hoyt AT, Duong HT, Tinker SC, Gallaway MS, Olney RS, Finnell RH, Hecht JT, Canfield MA. Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997-2011. Birth Defects Res. 2018 Mar 1;110(4):342-351. doi: 10.1002/bdr2.1147. Epub 2017 Nov 2. PubMed PMID: 29094488; PubMed Central PMCID: PMC5831519.

2017

Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab. 2017 Nov;122(3):76-84. doi: 10.1016/j.ymgme.2017.06.015. Epub 2017 Jul 8. PubMed PMID: 28711408.
Wang R, Metayer C, Morimoto L, Wiemels JL, Yang J, DeWan AT, Kang A, Ma X. Parental Age and Risk of Pediatric Cancer in the Offspring: A Population-Based Record-Linkage Study in California. Am J Epidemiol. 2017 Oct 1;186(7):843-856. doi: 10.1093/aje/kwx160. PubMed PMID: 28535175; PubMed Central PMCID: PMC5860074.
Currier RJ, Sciortino S, Liu R, Bishop T, Alikhani Koupaei R, Feuchtbaum L. Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?. Genet Med. 2017 Oct;19(10):1159-1163. doi: 10.1038/gim.2017.32. Epub 2017 May 4. PubMed PMID: 28471435.
Paulukonis ST, Feuchtbaum LB, Coates TD, Neumayr LD, Treadwell MJ, Vichinsky EP, Hulihan MM. Emergency department utilization by Californians with sickle cell disease, 2005-2014. Pediatr Blood Cancer. 2017 Jun;64(6). doi: 10.1002/pbc.26390. Epub 2016 Dec 21. PubMed PMID: 28000344; PubMed Central PMCID: PMC5403550.
Rosenthal NA, Bezar E, Mann S, Bachrach LK, Banerjee S, Geffner ME, Gottschalk M, Shapira SK, Hasegawa L, Feuchtbaum L. Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening. Ann Thyroid Res. 2017;3(1):95-101. Epub 2017 Apr 18. PubMed PMID: 28868522; PubMed Central PMCID: PMC5580838.
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. 2017 Jan 1;45(1):63-70. doi: 10.1515/jpm-2016-0207. PubMed PMID: 27718495; PubMed Central PMCID: PMC5380385.

2016

Molitor F, Sugerman SB, Sciortino S. Fruit and Vegetable, Fat, and Sugar-Sweetened Beverage Intake Among Low-Income Mothers Living in Neighborhoods With Supplemental Nutrition Assistance Program-Education. J Nutr Educ Behav. 2016 Nov-Dec;48(10):683-690.e1. doi: 10.1016/j.jneb.2016.07.002. Epub 2016 Aug 12. PubMed PMID: 27527908.
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. doi: 10.1097/AOG.0000000000001690. PubMed PMID: 27741202.
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 Sep;215(3):359.e1-9. doi: 10.1016/j.ajog.2016.04.002. Epub 2016 Apr 9. PubMed PMID: 27073062; PubMed Central PMCID: PMC5881897.
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):364-372. doi: 10.1097/AOG.0000000000001506. PubMed PMID: 27400000; PubMed Central PMCID: PMC5055875.
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. 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. Epub 2016 May 31. PubMed PMID: 27268406; PubMed Central PMCID: PMC4970906.
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. doi: 10.1177/003335491613100221. PubMed PMID: 26957672; PubMed Central PMCID: PMC4765986.
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.

2015

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.

2014

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.

2013

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.

2012

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.

2011

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.

2010

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.

2008

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.

2007

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.

2006

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.

2005

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.

2004

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.

2003

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.

2002

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.

2001

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.