Skip to main content
CA.Gov State of California Logo
en EspaƱol Contact Us About News & Media Jobs/Careers
+ Increase Text Resize Reset to Default - Decrease
CDPH Site Logo
CDPH Site Logo
  • Text Size
      • + Increase Increase
      • - DecreaseDecrease
      • Reset to Default Reset to Default
  • I am looking for
      • What’s New

      • 2025 State of Public Health Testimony

      • CDPH New Look

      • H5N1 Bird Flu

      • Respiratory Virus Report

      • Tips for After an Earthquake

      • Wildfire Preparedness and Safety

      • Administrative

      • All Local Health Jurisdiction Letters & Notices

      • Budget Highlights

      • Boards and Advisory Committees

      • Forms

      • Language Access Services Program

      • Local Health Services/Offices

      • Public Records Act Request

      • Proposed Regulations

      • Proposition 56 Fiscal Reporting

      • Diseases and Conditions

      • Cancer

      • COVID-19

      • Diabetes

      • Diseases and Conditions

      • Disease Reporting

      • Healthcare-Associated Infections

      • HIV/AIDS

      • Mpox

      • Problem Gambling

      • Respiratory Viruses

      • Sexually Transmitted Diseases

      • See More
      • Family Health

      • Breastfeeding

      • Genetic Disease Screening

      • Mental Health

      • Nutrition and Physical Activity

      • Pregnancy and Reproductive Health

      • Women, Infants and Children

      • Health and Safety

      • Climate Change and Health

      • Emergency Preparedness

      • Environmental Health

      • Health in all Policies

      • Workplace Health

      • Health Facilities

      • File a Complaint

      • California Health Facilities Information Database

      • Personal Health and Prevention

      • Behavioral Health

      • Cannabis (Marijuana)

      • Immunizations

      • Nutrition

      • Quit Smoking

      • Licensing, Certification and Other Credentials

      • Certificates, Licenses, Permits and Registrations

      • Health Care Facility Licenses

      • Health Care Professionals

      • Laboratory

      • Medical Professional Licenses

      • Medical Waste

      • Pet Importation and Exportation

      • Radiation and Nuclear

      • Registered Environmental Health Specialist

      • Vital Records

      • X-ray Machine Registration

  • I am a
      • Clinician / Healthcare Provider

      • Legislator / Legislative Staff

      • Media Representative

      • Researcher / Statistician

      • Person Interested In

      • Infant and Child Health

      • Men’s Health

      • Senior Health

      • Women’s Health

      • Youth and Young Adult's Health

      • LGBT Health

  • Programs
      • Center for Healthy Communities

      • California Tobacco Control

      • Childhood Lead Poisoning Prevention

      • Chronic Disease Control

      • Chronic Disease Surveillance and Research

      • Emergency Preparedness

      • See More
      • Center for Preparedness and Response

      • Be Prepared California

      • Know and Understand Natural Disasters

      • Center for Family Health

      • Genetic Disease Screening Program

      • Maternal, Child and Adolescent Health

      • Women, Infants and Children

      • Center for Health Care Quality

      • Healthcare-Associated Infections Program

      • Licensing and Certification

      • Center for Health Statistics and Informatics

      • End of Life Option Act

      • Medical Marijuana Identification Card Program

      • Research and Analytics Branch

      • Vital Records

      • Center for Infectious Diseases

      • HIV/AIDS

      • Binational Border Health

      • Communicable Disease Control

      • Communicable Disease Emergency Response

      • Refugee Health

      • See More
      • Director / State Public Health Officer

      • Legislative and Governmental Affairs

      • Let's Talk Cannabis

      • Office of Health Equity

      • Office of Communications

      • See More
      • Center for Environmental Health

      • Division of Food and Drug Safety

      • Division of Radiation Safety and Environmental Management

      • See More
      • Center for Laboratory Sciences

      • Division of Environmental Health Laboratories

      • Infectious Diseases Laboratory Division

      • Laboratory Field Services

      • Office of State Public Health Laboratory Director

      • Operations Branch

      • See More
      • Other CDPH Offices

      • Privacy Office

      • Office of Regulations

      • See More
  • A-Z Index
Division of Genetic Disease Screening

Skip Navigation Linkspublications
 

Top Menu
  • Division of Genetic Disease ScreeningCurrently selected
Skip Navigation LinksDivision of Genetic Disease Screening > Pages > publications
  • Home
  • Programs
  • Center for Family Health
  • Division of Genetic Disease Screening
  • Genetic Disease Screening Program Publications
Left Menu
  • Lists
  • Programs
    • California Conference of Local Health Officers
      • CCLHO Board and Committee Information
      • CCLHO Board of Directors
      • Chronic Disease And Injury Prevention
      • Communicable Disease Control And Prevention
      • Environmental Health
      • CCLHO Executive Committee
      • Health Information And Data
      • Semiannual Meetings
      • Small Jurisdiction Committee
      • Other CCLHO Meetings
      • CCLHO Board of Directors April 2017
      • About CCLHO
      • CCLHO Affiliates
      • CCLHO Board And Committee Chairs
      • CCLHO Strategic Map 2017-2020
      • CCLHO Organization
      • Chronic Disease Injury Prevention Agenda 1-5-2017
      • Chronic Disease Injury Prevention Agenda 2-15-2017
      • Chronic Disease Injury Prevention Agenda 3-2-2017
      • Health Officer Resources
    • Center for Environmental Health
      • Division of Food and Drug Safety
        • Manufactured Cannabis Safety Branch
          • Apply for a License
          • Complaint
        • Program Landing
        • Manufactured Cannabis Safety Branch
        • Food and Drug Laboratory Branch
        • FDLB Contact Us
        • FDLB Chemistry and Microbiology Client List
        • Abused Substances Analysis Section (ASAS)
        • Chemistry Section
        • Food and Drug Branch
        • FDB Certificates and Licenses
        • Forensic Alcohol Laboratory Program
        • Methadone Laboratory Regulatory Program
        • FARC
        • Helpful Hints
        • FAQs
        • Cannery Frequently Asked Questions
      • Division of Radiation Safety and Environmental Management
        • Radiologic Health Branch (RHB)
        • Radiologic Technology Certification Committee
        • RHB Laws and Regulations
        • RHB-Contact
        • RHB Job Opportunities
        • IN-LPRP
        • Radiation Emergencies
        • RHB - What's New
        • RHB - About Us
        • Recreational Health Program Contact Page
        • RHB - Radiation Safety Complaints
      • Certificates, Licenses, Permits and Registrations
      • Environmental Health Support Section
      • One Health
      • EHTER
      • Office of State Environmental Health Director
    • Center for Family HealthCurrently selected
      • Division of Genetic Disease Screening
        • GDSP Mission
        • Genetic Disease Screening Program Publications
        • GDSP False Claims Act
        • Screening Information System (SIS)
        • GDSP Notice Of Information And Privacy Practices
        • GDSP Program and Services
        • Billing and Payment
        • Payment Portal FAQ
        • Current Year Budget Estimates
        • GDSPContactPage
        • Referral Centers
        • Your Future Together
        • Supporting Research
        • Education Resources for Individuals and Families
        • Education Resources for Healthcare Providers
      • Maternal, Child and Adolescent Health Division
        • Adolescent Family Life Program
          • Where We Are
          • Contact Us
          • Program Consultants and Contract Liaisons
          • Stories from the Adolescent Family Life Program
          • AFLP Request for Application 2023
          • AFLP RFA 2023 Addendum #1
          • AFLP RFA 2023 Addendum #2
          • AFLP RFA 2023 Addendum #3
          • AFLP RFA 2023 Questions and Answers
          • AFLP RFA 2023 Addendum-4
          • AFLP RFA 2023 Public Notice of Intent to Award
          • AFLP RFA 2023 Final Announcement of Awards
          • AFLP Program Implementation
          • AFLP Evaluation Program Outcomes
          • AFLP Program Evaluation
          • State Fiscal Year (SFY) 2024-2025 AFLP Budget Submission and Supplemental Forms Announcement
        • Adolescent Health
        • Adolescent Sexual Health Education Program
        • Black Infant Health Program
          • Where We Are: Local BIH Sites and Coordinators
          • Contact Us
          • Maternal and Infant Mortality/Morbidity
          • Health Equity
          • Outreach and Education Toolkit
          • Program Consultants and Contract Liaisons
          • Evaluation of the California Black Infant Health Program
          • Program Evaluation: Intermediate Outcomes Among Prenatal Group Model Participants
          • Program Evaluation: Services Received and Services Provided During Prenatal Group
          • Program Evaluation: Participant Participant and Staff Perceptions about the Program
          • SisterStory: Stories from Black Infant Health
          • Program Evaluation: Participants Served
          • Program Evaluation: Contextual Conditions that Supported the Implementation of the Prenatal Group Model
          • Group Model Components
          • Notice of Intent to Award: Updated Annual Allocations for the Black Infant Health Program for State Fiscal Years 2024/25 and 2025/26
        • Breastfeeding Initiative
          • Breastfeeding Sites and Local Coordinators
          • Guidelines and Resources
          • Guidelines and Resources for Clinics
          • Guidelines and Resources for Community Partners
          • Guidelines and Resources for Hospitals
          • Guidelines and Resources for Providers
          • Hospital Quality Improvement
          • Breastfeeding Laws
          • Breastfeeding Model Hospital Policy Recommendations
          • Lactation Accommodation
          • Lactation Accommodation: For Child Care Providers
          • Lactation Accommodation: For Community Partners
          • Lactation Accommodation: For Employers
          • Lactation Accommodation: For Parents
          • Breastfeeding
          • Data and Reports
          • In-Hospital Breastfeeding Initiation Data
          • Lactation Accommodation Laws for Workplace, Jails and School
          • Breastfeeding Awareness
        • California Home Visiting Program
          • Program Policies and Procedures
          • CHVP Sites and Local Coordinators
          • Contact Us
          • Data and Reports
          • Program Resources
          • Program Consultants and Contract Liaisons
          • HomeStory
          • California Statewide Home Visiting Needs Assessment
          • Evidence-Based Home Visiting Models in California
          • CHVP Memo #23-04: Notice of Award for MIECHV
          • CHVP Memo #23-05: Notice of Award for State General Fund
          • Request for Supplemental Information
          • State General Fund Innovation 2.0
          • Funding Alert for CHVP State General Fund Innovation for State Fiscal Year 2023 – 2028, 2023
          • Addendum #1 for CHVP State General Fund Innovation for State Fiscal Year 2023 – 2028, 2023
          • Questions and Answers for CHVP Request for S​uppl​​ementa​l Information 2023
          • Interim Guidance Regarding Allowable Uses of CHVP State General Funding for Mental Health or Social Worker Consultation in Home Visiting
          • CHVP Policy and Procedure Feedback Request
          • Addendum 2 - CDPH/CHVP State General Fund Innovation 2.0 Request for Supplemental Information (RSI) for State Fiscal Year 2023 – 2028, 2023
        • California Personal Responsibility Education Program
          • CA PREP Request for Application 2018
          • CA PREP Questions and Answers for 2018 RFA
          • Contact Us
          • CAPREP-RFA-2021
          • CA PREP RFA 2021 Addendum #1
          • CA PREP Questions and Answers for 2021 RFA
          • CA PREP RFA 2021 Addendum #2
          • CA-PREP RFA 2021: Public Notice of Intent to Award
          • CA-PREP RFA 2021: Public Notice of Final Award
        • Comprehensive Perinatal Services Program
          • CPSP/MCAH Prenatal Programs in Your County
          • Contact Us
          • Provider Resource Document
          • New CPSP Provider Application and Process
        • Data Dashboards
        • Fetal and Infant Mortality Review
          • Local FIMR Coordinators
        • FLOURISH
        • Human Stem Cell Research
          • Human Stem Cell Research Advisory Committee
          • Human Stem Cell Research Reporting Forms
          • HSCR Advisory Committee Meetings
        • Information and Education
          • Local I&E Coordinators
          • I&E Request for Application 2019
          • Contact Us
        • Local Maternal, Child and Adolescent Health
          • Local MCAH Directors and Coordinators
          • Annual Reports
          • County Profiles
          • About Us
          • Contact Us
          • Transition of the Perinatal Services Coordinators (PSCs) Activities — October 6, 2023
          • Comprehensive Perinatal Services Program (CPSP) Frequently Asked Questions (FAQs)
          • Release of Comprehensive Perinatal Services Program (CPSP) Frequently Asked Questions (FAQs)
        • Maternal and Infant Health Assessment
          • Methods
          • Questionnaires
          • Successes
          • Contact Us
          • MIHA Data and Reports
          • FAQs
          • Income loss, job loss and childcare problems early in the COVID‑19 pandemic
          • Mental health during and after pregnancy early in the COVID-19 pandemic
          • Food Insecurity and Housing Instability Early in the COVID-19 Pandemic
          • COVID-19 impacts on pregnant people and families in California, 2020
          • MIHA Data Dashboards
          • MIHA Data Snapshots Dashboard
        • Nutrition and Physical Activity
          • Guidelines and Resources
          • Systems and Environmental Change
          • Emergency Preparedness: Infant and Young Child Feeding
          • MyPlate
          • Healthy Eating and Physical Activity as a Family
          • Folic Acid
          • California Infant Feeding Guide
          • Healthy Weight for Healthy Birth and Beyond
          • Physical Activity for Children
          • Choking Prevention for Young Children
          • Multiple Factors Affect Birthing Parents’ Weight
          • Healthy Weight for Healthy Birth and Beyond Toolkit
          • Healthy Weight for Healthy Birth and Beyond Data Brief
          • Physical Activity as a Family
          • Healthy Eating as a Family
        • Perinatal Equity Initiative
          • Contact Us
          • Outreach and Education Toolkit
          • PEI Where We Are
          • Program Consultants and Contract Liaisons
          • PEI Community Advisory Board (CAB)
          • Perinatal Equity Initiative Public Awareness Campaigns
        • Preconception
        • Regional Perinatal Programs of California
          • Where We Are: Local RPPC Sites and Coordinators
          • Program Policy and Procedures
          • Contact Us
          • RPPC RFA 2022 Addendum #1
          • RPPC RFA 2022 Addendum #2
          • RPPC RFA 2022 Addendum #3
          • RPPC RFA 2022 Addendum #4
          • RPPC Request for Application 2025
          • RPPC RFA 2025 Questions & Answers
          • Addendum 2 - RPPC Request for Application 2025
          • Addendum 1 - RPPC Request for Application 2025
        • Sudden Infant Death Syndrome (SIDS) Program
          • Local SIDS Coordinators
          • Risk Reduction Resources
          • SIDS Advisory Council
          • SIDS Advisory Standing Rules
          • Safe Sleep Environments for Infants
          • SIDS Resources for Me and My Family
          • SIDS Protocols
          • Tool for First Responders
          • Preparing for SUID Home Visit
          • SIDS Program Mentors
          • Health Care Professionals
          • Contact-Us
          • MyStory: Stories from the California SIDS Program
          • SIDS Coordinator Mentors
          • SIDS Parent Support Group
          • Safe Sleep for Babies
          • SueƱo Seguro Para Los BebĆ©s
          • SIDS/SUID Advisory Council Members
      • Women, Infants and Children
        • Program Landing
        • Grocers
        • Local Agencies
        • Report Fraud & Abuse
        • Farmers’ Markets
        • WIC Foods
        • Research & Data
        • About WIC
        • Laws & Regulations
        • How Can I Get WIC?
        • Health Care Providers
        • Budget Estimate Archive
        • FederalFoodRequirementsandExamples
        • Breastfeeding Resources for Health Care Providers
        • Bulletin Regulations
        • 2021 Summer Benefit Increase
      • Hunger, Nutrition, and Health
    • Center for Health Care Quality
      • Healthcare Associated Infections
        • Program Landing
        • Me and My Family
        • Healthcare Providers
        • Annual HAI Reports
        • Public Health Partners
        • HAI Advisory Committee
        • ContactUs
        • M.Chimaera
        • ​Antimicrobial Resistance (AR)
        • HAI Interactive Maps
        • Monitoring Adherence to Healthcare Practices that Prevent Infection
        • Healthcare-Associated Infections (HAI)
        • Healthcare Personnel Influenza Vaccination Reporting In CA Hospitals
        • HAI Advisory Committee Members List
        • CA Campaign To Prevent BSI in Hemodialysis Patients
        • 2-Day Basics IP Course
        • C. difficile (C. diff, CDI)
        • Central Line-associated Blood Stream Infection (CLABSI)
        • Methicillin-Resistant Staphylococcus aureus Bloodstream Infection (MRSA BSI)
        • Vancomycin Resistant Enterococci Bloodstream Infection (VRE BSI)
      • Licensing and Certification Program
        • CalHealthFind
          • ASPEN_STATE_2567
          • Complaint Investigation Process
          • Consumer Guide
          • Facility/Provider Types
          • Facility Compare
          • Facility Detail
          • Facility Detail Popup
          • Helpful Links
          • Search Result
          • State Enforcement Actions
          • STATE_PENALTY_1424
          • STATE_PENALTY_2567
          • ASPEN_FEDERAL_2567
          • Complaint
          • Survey Inspection Details
          • Medi-Cal Involuntary Terminations
        • Program Landing
        • Health Care Facilities
        • Patients, Residents, and Families
        • Stakeholders and Policy Makers
        • Health Care Professionals
        • All Facilities Letters
        • L&C All Facilities Letters 2006
        • L&C All Facility Letters 2007
        • L&C All Facility Letters 2008
        • Stakeholder Forum
        • Find and choose a nursing home
        • L&C All Facilities Letters 2009
        • L&C All Facilities Letters 2010
        • Field Operations Branch - District Offices
        • License Fee Reports
        • Quality Improvement Initiatives
        • L&C All Facilities Letters 2011
        • L&C All Facilities Letters 2012
      • testpage
      • Stakeholder Forum
      • SNFMobileApp
      • SNFData
      • SNFeducation
      • SNFsurveymodel
      • SNFresources
      • testnewdn
    • Center for Health Statistics and Informatics
      • California Marriage License, Registration and Ceremony Information
      • Vital Records
      • RAB - County Health Status Profiles
      • RAB Researchers and Statisticians
      • Vital Records Fees
      • Vital Records Important Infomation
      • Vital Records Obtaining Certified Copies of Death Records
      • Authorized Copy vs. Informational Copy
      • Assembly Bill (AB) 1733
      • Contact CDPH Vital Records
      • Vital Records Processing Times
      • Sworn Statement
      • Obtaining Vital Records From County Offices
      • Vital Records Issuance and Preservation Branch
      • California Marriage License General Information
      • Types of Marriage Licenses
      • Adoption Process
      • Marriage Officiant Frequently Asked Questions
      • County Registrars and Recorders
    • Center for Healthy Communities
      • Division of Chronic Disease and Injury Control
        • California Tobacco Control Branch
          • Tobacco Education and Research Oversight Committee
          • TEROC Meeting Information
          • TEROC Plan 2025
          • Education Materials
          • Tool Kits And Manuals
          • Media Campaign Information
          • Evaluation Plans
          • Cessation Services and Resources
          • Contact Information
          • CTCB Peer Reviewed Publications
          • Electronic Smoking Devices
          • Fact Sheets and Reports
          • Flavored Tobacco and Menthol
          • Welcome
          • Partners
          • News and Press Releases
          • Tobacco Taxation and Price
        • Chronic Disease Control Branch
          • Program Landing
          • Alzheimer’s Disease
          • Arthritis
          • Diabetes Prevention
          • Heart Disease Prevention
          • Preventive Medicine Public Health Residency Program
          • California Epidemiologic Investigation Service Fellowship Program
          • California Wellness Plan Implementation
          • California Stroke Registry-California Coverdell Program
          • Healthy Hearts California
          • Guidelines, Resources, and Evidence-Based Best Practices for Providers
          • About Us
          • California Alzheimer’s Disease Centers
          • CWPI Convenings
          • CWPI Resources
          • Alzheimer’s Disease Program
          • Alzheimers Disease Resources
          • AlzheimersDataStatisticsReports
          • Stroke
        • Chronic Disease Surveillance and Research Branch
          • Contact CDSRB
          • California Comprehensive Cancer Control Program
          • California Cancer Registry
          • About the CDSRB
          • About the CCR
          • Contact the CCR
          • California's Comprehensive Cancer Control Plan
          • PSE in Comprehensive Cancer Control
          • CDOC Contact Us
          • Cancer Survivorship Care Plans
          • CDOC's Big Win
          • Library of Surveillance Tutorials
          • CDOC Webinars and Presentations
          • CDOC main page
          • CDOC Executive Committee
          • California Parkinson's Disease Registry
          • CPDR FAQs
          • HIPAA FAQs
        • Injury and Violence Prevention
          • Injury and Violence Prevention Branch
          • Overdose Prevention Initiative
          • Domestic Violence/Intimate Partner Violence
          • Sexual Violence Prevention
          • Teen Dating Violence
          • Domestic Violence Prevention
          • Child Passenger Safety (CPS) In California
          • Essentials for Childhood
          • Cal-Enhanced
          • Crash Medical Outcomes Data Project
          • Naloxone Grant Program
          • Kids Plates
          • Pedestrian Safety (PedSafe) Program
          • Drowning Prevention: Toddler Pool and Spa Safety
          • Rape Prevention and Education Program
          • Domestic Violence Awareness Month
          • Sexual Assault Awareness Month
          • Naloxone Terms and Conditions
          • Your Pain is Real. So Are the Risks.
        • Nutrition and Physical Activity Branch
          • NEOPB Employment Opportunities
          • Research and Evaluation Section (RES)
          • Statewide Evaluation
          • Initiatives
          • Children and Youth
          • Prevention First
          • LHD Program Letters
          • Local Health Department Evaluation
          • Impact Outcome Evaluation
          • SNAP-Ed Guidance for Local Health Departments
          • Helpful Links
        • CDIC Leadership
      • Division of Environmental and Occupational Disease Control
        • Childhood Lead Poisoning Prevention Branch
          • Healthcare Provider Education
          • Lead Education Materials
          • Lead Related Construction
          • LRC Program Overview
          • Types of Certification
          • Testing Your Home for Lead
          • LRC Certification Process
          • LRC Traning
          • LRC State Certification Exam
          • Apply for Certification or Renewal
          • Hire a Lead Professional
          • Find a Lead Professional
          • Frequently Asked Questions
          • Health Care Providers
          • About the CLPPB
          • Report Results
          • Me and My Family
          • Lead Professionals
          • Provider Overview
          • Data
        • Environmental Health Investigations Branch
          • Community Participation & Education Section
          • Environmental Epidemiology Section
          • Exposure Assessment Section
          • Site Assessment Section
          • Contact EHIB
          • Environmental Justice
          • About EHIB
          • EHIB Programs
          • EHIB A to Z Index
          • EHIB Educational Materials
          • Data, Tools, and Research
          • Prescribed-Fire
          • LHD-Prescribed-Fire
        • Environmental Health Laboratory Branch
          • Air Quality Section
          • Biochemistry Section
          • About the Environmental Health Laboratory
          • CDPH-Approved Cholinesterase Laboratories
          • Contact the Environmental Health Laboratory
        • Occupational Health Branch
          • About Occupational Health Branch
          • Occupational Health Branch Programs and Activities
          • Occupational Health Branch Publications & Videos
          • Data & Statistics
          • Contact OHB
          • What's New at the Occupational Health Branch
          • Newsletter
          • Work-Related Valley Fever (Coccidioidomycosis)
          • Occupational Health Watch February 2017
          • Occupational Health Watch March 2017
          • Occupational Health Watch January 2017
          • Occupational Health Watch April 2017: Spotlight on Skylight Falls for Workers Memorial Day
          • Occupational Health Watch November 2016
          • Occupational Health Watch October 2016
          • Occupational Health Watch September 2016
          • Occupational Health Watch July 2016: August Is Valley Fever Awareness Month
          • Occupational Health Watch June 2016
          • Occupational Health Watch May 2016
        • Continuing Education
        • Environmental Health Topics
        • Emergency Preparedness Team
        • Senior Health
      • Opioids
      • Substance and Addiction Prevention Branch
        • Cannabis
      • Environmental Health
      • Vaping Health Advisory
      • EVALI Weekly Public Report
      • About Us
      • Media Campaigns
      • Local Health Department Corner
      • Proposition 56 Fiscal Reporting
      • Office of School Health
      • About Us
      • 2023–24 Program Accomplishments
      • School-Based Health Center
      • Office of School Health Hub
      • Epinephrine Standing Order Frequently Asked Questions
    • Center for Infectious Diseases
      • Division (Office) of AIDS
        • HIV/AIDS Welcome Page
        • HIV/AIDS Program Overview
        • HIV Care Branch
        • HOPWA Program
        • OA Medi-Cal Waiver Program (MCWP)
        • Housing Plus Project
        • Minority AIDS Initiative
        • OA ADAP Branch
        • HIV/AIDS Prevention Program
        • HIV/AIDS Surveillance Program
        • Office of AIDS Budget Process
        • LGBTQ+ Health
        • HIV Care Program
        • HIV/AIDS ADAP Contractors
        • HIV/AIDS ADAP Service Providers
        • HIV/AIDS ADAP Communications
        • HIV/AIDS ADAP Health Insurance Premium Payment Assistance
        • HIV/AIDS ADAP Forms
        • HIV/AIDS ADAP Resources
        • OA HIV Data Systems
      • Division of Communicable Disease Control
        • CalREDIE
        • CalREDIE Contact Us
        • CDER Contact Us
        • CDER Information for Health Professionals
        • CDER Resources
        • Chlamydia
        • Communicable Disease Emergency Response Program
        • DCDC Contact Us
        • DCDC Information for Local Health Departments
        • DCDC Resources
        • Gonorrhea
        • Hepatitis C
        • Infectious Diseases Branch
        • Interpreting Zika Virus Test Results
        • Pelvic Inflammatory Disease (PID)
        • Sexually Transmitted Diseases Control Branch
        • Syphilis
        • TBCBContactUs
        • Trichomoniasis
        • VRDL Guidelines for Specimen Collection and Submission for Pathologic Testing
      • Office of Binational Border Health
        • Office of Binational Border Health Publications
        • Office of Binational Border Health Advisory Group
        • About the Office of Binational Border Health
        • Contact the Office of Binational Border Health
        • Border Infectious Disease Surveillance
        • Infectious Disease Epidemiology
        • Binational Case Reporting
        • Binational Communication
        • Quarterly Binational Epidemiology Meetings
        • Border Region Respiratory Disease Surveillance
        • Border Infectious Disease Surveillance - Coccidioidomycosis
        • Border Infectious Disease Surveillance - Queso Fresco
        • Border Infectious Disease Surveillance - Mosquito-borne-diseases
        • Border Infectious Disease Surveillance - Rocky Mountain Spotted Fever
        • Border Infectious Disease Surveillance - Influenza and Other Respiratory Infections
        • Border Demographics
        • Border Obesity
        • Border Diabetes
        • Border Mental Health & Suicide
      • Office of Infectious Disease Preparedness and Response
        • Pathways
      • Office of Refugee Health
        • Refugee Health Clinics
        • Program Overview
        • Data & Statistics
        • Alameda County Resources
        • How to Request an Interpreter
        • Making a Medical Appointment
        • What is a Specialist
        • Complain About a Doctor
        • Health Emergency
        • Difference between Hospital and Clinic
        • Choose a Health Plan
        • Dental Care
        • Prescription Medication
        • Preventative Care
        • Health Screening
        • Immunizations
        • Contra Costa
        • Los Angeles
        • Orange
        • Sacramento
      • About the Deputy Director
      • AboutCID
    • Center for Laboratory Sciences
      • Division of Environmental Health Laboratories
        • Drinking Water and Radiation Laboratory
        • Environmental Health Laboratory
        • Food and Drug Laboratory
      • Infectious Diseases Laboratory
        • Infant Botulism Treatment and Prevention Program
        • Microbial Diseases Laboratory
        • Viral and Rickettsial Disease Laboratory
      • Operations
    • Director's Office
      • Let's Talk Cannabis
        • En Español
        • FAQ and Fact Sheet Printable Resources
        • Helpful Resources
        • What’s Legal
        • Parents and Mentors
        • Pregnant and Breastfeeding Women
        • Responsible Use
        • Youth
        • Community Toolkit
    • Emergency Preparedness Office
      • CDPH/EMSA Real-Time Mapping Application
      • Develop a Family Disaster Plan
      • Prepare an Emergency Supply Kit
      • Be Prepared California
      • Be Prepared Landing
      • Be Informed
      • Emergency and Evacuation Planning Guide for Schools
      • Tips for Communicating with Students During an Emergency
      • Know When and How to Shelter-in-Place for Schools
      • How to Help Students Cope and Deal with Stress
      • Pandemic Flu Checklist Homepage
      • Partners - Landing
    • Human Resources Division
      • Recruitment Events
      • Accounting
      • BusinessPros
      • BusinessPros
      • Community Safety
      • Consumer Goods
      • Entry Level
      • Environmental
      • IT
      • LabScience
      • Legal
      • Operations
      • PHDisease
      • Physician
      • ProgramAdmin
      • Public Relations
      • Regulatory Enforcement and Inspection
    • NBS
    • Office of Communications
      • CDPH Lifts Rock Crab Health Advisory in Portions of San Mateo County - South of Pillar Point
      • News Releases 2017
      • CDPH Launches Mobile Website for WIC Participants
      • CDPH Reports Widespread Flu Activity that is More Severe than Last Year
      • CDPH Fines San Francisco County Facility in Death of Resident
      • CDPH Fines Los Angeles County Facility in Death of Resident
      • Let’s Get Healthy California Announces Local Innovations to Improve California’s Health
      • Dungeness Crab Health Advisory Lifted for Remainder of California Coast
      • CDPH Issues Penalties to 14 Hospitals
      • News Releases 2016
      • Influenza Cases Widespread in California
      • Dungeness Crab Health Advisory Lifted in Portions of Mendocino County – South of Ten Mile River
      • CDPH Warns Consumers Not to Eat Sport-Harvested Bivalve Shellfish from San Luis Obispo County
      • Dungeness Crab Health Advisory Lifted in Portions of Sonoma, Mendocino, Humboldt Counties
      • CDPH Releases Reports on Healthcare-Associated Infections, Influenza Vaccination Rates Among Healthcare Personnel
      • CDPH Warns Consumers Not to Eat Sport-Harvested Bivalve Shellfish from Monterey County
      • CDPH Awarded Grant to Expand Child Safety-Seat Use
      • CDPH Awarded Grant to Study Motor-Vehicle Crash Injuries
      • Holiday Travelers Reminded to Take Precautions to Prevent Zika
      • Local Transmission Confirmed in Ensenada, Mexico
    • Office of Compliance
      • Office of Compliance Contact Us Page
    • Office of Health Equity
      • Abortion
      • Office of Health Equity Advisory Committee
      • Health Equity Research and Statistics Section
      • OHE Advisory Committee Bios
      • About_OHE
      • Contact Us
      • CDEU
      • OHESpeaker Series
      • CRDP
      • Health in All Policies
      • Disparities
      • Men's Health
      • Women's Health
      • Climate & Health Profile Reports
      • CalBRACE Project - Climate Change & Health Equity
      • CCHEP - Climate Impacts of Racism
      • Climate & Health Vulnerability Indicators for CA
    • Office of Legislative and Governmental Affairs
      • Legislative Summaries
      • Legislative Newsletters
      • Contact Us
      • LegislativeReports
    • Office of Policy and Planning
      • California Equitable Recovery Initiative (CERI) Q&A
      • AB 1726 Asian and Pacific Islander Data Disaggregation Brief
      • State of Public Health Report
      • State of Public Health Report Resource Hub
      • Redirect Fusion to OPP
      • Transforming Behavioral Health
      • Partner and Community Engagement
    • Office of Problem Gambling
      • Helplines & Support Groups
      • Types of Treatment Offered
      • Resources & Tools
      • Gambler Self Assessment
      • Youth Gambler Self-Assessment
      • Know a Problem Gambler?
      • CalGETS
      • CalGETS Phase II
      • Announcements, Events & Trainings
      • Reports
      • Advisory Group
      • About OPG
      • Provider-Directory
      • Tools and Resources
      • 3 Questions
      • If You Feel Alone
      • Calendar
      • What is Problem Gambling
      • Loved Ones and Youth
      • Hope for Gamblers
    • Office of Professional Development & Engagement
      • Contact OPDE
      • Internship Program
      • Interns Corner
      • Meet the Former Interns --Eric Neuhauser
      • Meet the Former Interns -Carmen San
      • Meet the Former Interns - Katey DeSanti
      • Meet the Former Interns - Ryan Skaggs
      • Meet the Former Interns - Yesenia Posadas
      • Volunteer Internship Program
      • Language Access Plan
      • Language Access Services Program
    • Office of the State Public Health Laboratory Director
      • Laboratory Central Services
        • California Laboratory Animal Use Approval Program
      • Laboratory Field Services
        • About Us
        • Contact Us
        • Job Opportunities
        • Regulatory Information
        • Complaints Program - Laboratory Field Services
        • Clinical Laboratory Technology Advisory Committee (CLTAC)
        • Clinical Laboratory Scientist Trainee License
        • Clinical Chemist Scientist Trainee License
        • Clinical Cytogeneticist Scientist Trainee License
        • Clinical Genetic Molecular Biologist Scientist Trainee License
        • Clinical Hematologist Scientist Trainee License
        • Clinical Histocompatibility Scientist Trainee License
        • Clinical Immunohematologist Scientist Trainee License
        • Clinical Microbiologist Scientist Trainee License
        • Clinical Toxicologist Scientist Trainee License
        • License Verification
        • Clinical Laboratory Professional Licensing
        • Renewal of Clinical Laboratory Personnel Licenses & Certificates
        • Changing Key Demographic Information
        • Phlebotomy Certificate
  • Recent

Genetic Disease Screening Program

shelves of books​​

Publications

By Year​

​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, PĆ©rez-GonzĆ”lez 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.

  • TachĆ© 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

  • ​Feu​​chtbaum 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

  • Englis​​h 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.​

​2000

  • ​Feuchtba​um 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.

​1999

  • Feucht​baum 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.​

​1996

  • Wal​ler 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.

​1995

  • ​Feucht​baum 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.

​1992

  • ​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.​​

Page Last Updated : November 15, 2023
PHAB
For General Public Information
  • (916) 558-1784
  • Contact Us
  • Web Accessibility Certification
  • Download pdf viewer
  • Feedback
  • Jobs/Careers
  • Privacy Policy
  • Sitemap
  • Use Policy
Useful Links
  • Visit Governor's Website
  • State Agency Directory
  • CA Health & Human Services
  • Centers for Disease Control and Prevention
Visit CDPH on Instagram for the latest updates and health tips. Follow CDPH on Facebook to stay informed and connected. Explore professional updates and news from CDPH on LinkedIn. Watch health-related videos and get updates from CDPH on YouTube. Stay up to date with tweets and announcements from CDPH on X. Get the latest information and stay informed with CDPH on Bluesky. Connect and engage with CDPH on Threads to get the latest updates.