Publications

2026

Sequencing for a lifetime: Value, feasibility, and the governance gap in lifelong genomic medicine

Lewis ACF, Holm IA, Buchanan AH, Goldenberg AJ, Knoppers BM, McGuire AL, Green RC

medRxiv In Press

Genomic newborn screening: A scoping review of the field’s evolution and associated ethical, legal, and social implications

Brown GL, Walker L, Afolabi MA, Bain PA, Bonilha A, Chaudhari BP, Christodoulou J, Dai Z, Friedman JM, Gaviglio A, Green RC, Jagu S, Knoppers BM, Newson AJ, Stark Z, Vears DF, Wilson A, Bombard, Lewis ACF

European Journal of Human Genetics May 2026  

Designing inclusive newborn sequencing research: Insights from parents in underrepresented communities

Del Rosario MC, Walmsley SA, Harrison BW, Stephens CT, Zettler B, Rivera-Cruz G, Agrawal P, Brower A, Chigbu S, Christensen KD, Genetti CA, Givens R, Gold NB, Reeves IV, Schichter I, Shariat H, Simon S, Smith HS, Uveges M, Green RC, Holm IA, Pereira S

BMC Medical Genetics March 2026  

Navigating ethical, legal and social implications in genomic newborn screening

Lewis ACF, Brown G, The GA4GH Working Group on genomic newborn screening, Bombard Y

Nature Reviews Genetics February 2026  

2025

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Downie L, Yeo J, Minten T, Heald R, Ansel D, Baker M, Balciuniene J, Berg JS, Boemer F, Chung WK, Cope HL, Eckstein DJ, Encina N, Faivre L, Ferlini A, García-Villoria J, Gelb MH, Aledo-Castillo, JMG Golden-Grant K, Parad RB, Shah N, Stark Z, Sund KL, Tsipouras P, To M, Bick D, Green RC, ICONS, Gold NB

Genetics in Medicine October 2025  

Are inherited metabolic disorders more common and less predictable than we thought?

Gold NB, Strong A, Somanchi H, Gold J

Journal of Inherited Metabolic Diseases September 2025  

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H, ICoNS Gene List Contributors, Bick D, the International Consortium on Newborn Sequencing (ICoNS), Green RC, Gold NB

Genetics in Medicine May 2025  

Advancing precision care in pregnancy through a treatable fetal findings list

Cohen JL, Duyzend M, Adelson SM, Yeo J, Fleming M, Ganetzky R, Hale R, Mitchell DM, Morton SU, Reimers R, Roberts A, Strong A, Tan W, Thiagarajah JR, Walker MA, Green RC, Gold NB

American Journal of Human Genetics April 2025  

Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns

Gold NB, Omorodion JO, del Rosario MC, Rivera-Cruz G, Hsu CY, Ziniel SI, Holm IA

Journal of Genetic Counseling April 2025  

2024

Family genetic risk communication and cascade testing in the BabySeq Project

Uveges MK, Smith HS, Pereira S, Genetti C, McGuire AL, Beggs AH, Green RC, Holm IA

Genetics in Medicine December 2024  

Long-term health outcomes of individuals with pseudodeficiency alleles in IDUA may inform newborn screening practices for mucopolysaccharidosis type I

O'Grady L, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Green RC, Karaa Amel, Gold NB

American Journal of Medical Genetics: Part A November 2024  

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders

Bick SL, Nathan A, Park H, Green RC, Wojcik MH, Gold N

Genetics in Medicine September 2024  

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants

Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC

American Journal of Human Genetics September 2024  

Genetic counselors’ perspectives on genomic screening of apparently healthy newborns

del Rosario MC, Swenson KB, Coury S, Schwab J, Green RC, Gold NB

Genetics in Medicine Open August 2024  

Ready or not, genomic screening of fetuses is already here

Gold NB, Nadel A, Green RC

Genetics in Medicine January 2024  

2023

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, Holm IA, Beggs AH for the BabySeq Project

American Journal of Human Genetics | PMID: 37279760 June 2023  

Perspectives of rare disease experts on newborn genome sequencing

Gold NB, Adelson SM, Shah N, Williams S, Bick S, Zoltick ES, Gold J, Strong A, Ganetzky R, Roberts A, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm I, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC

JAMA Network Open May 2023  

Are we prepared to deliver gene‐targeted therapies for rare diseases?

Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, Urv TK

American Journal of Medical Genetics Part C: Seminars in Medical Genetics January 2023  

2022

Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Pereira S, Gutierrez AM, Robinson JO, Christensen KD, Genetti CA, Zawatsky CLB, Hsu RL, Zettler B, Uveges MK, Parad RB, Beggs AH, Holm IA, Green RC, McGuire AL for The BabySeq Project Team

Genetics in Medicine | PMID: 36549595 December 2022  

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T

American Journal of Human Genetics August 2022  

Parental attitudes toward standard newborn screening and newborn genomic sequencing: Findings from the BabySeq Study

Armstrong B, Christensen KD, Genetti CA, Parad RB, Robinson JO, Zawatsky CLB, Zettler B, Beggs AH, Holm IA, Green RC, McGuire AL, Smith HS, Pereira S

Frontiers in Genetics | PMID: 35571041 April 2022  

2021

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

Gold NB, Harrison SM, Rowe J, Gold J, Furutani E, Biffi A, Duncan CN, Shimamura A, Lehmann LE, Green RC

Human Genetics and Genomics September 2021  

Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project

Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Zawatsky CLB, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL, BabySeq Project Team

JAMA Pediatrics August 2021  

Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression

Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC, The BabySeq Project Team, Bachmann GA, Rabson AB, Holm IA

Journal of Genetic Counseling July 2021  

A framework for automated gene selection in genomic sequencing

Lazo de la Vega L, Yu W, Machini K, Austin-Tse CA, Hao L, Blout Zawatsky CL, Mason-Suares H, Green RC, Rehm HL, Lebo MS

Genetics in Medicine | PMID: 34113001 June 2021  

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti C, Lebo M, Yu TW, Parad RB, Holm IA, Rehm HL, Green RC, Beggs AH, Agrawal PB, BabySeq Project Team

Genetics in Medicine March 2021  

Universal newborn genetic screening for pediatric cancer predisposition syndromes: Model-based insights

Yeh JM, Stout NK, Chaudhry A, Christensen KD, Gooch M, McMahon PM, O'Brien G, Rehman N, Zawatsky CLB, Green RC, Lu CY, Rehm HL, Williams MS, Diller L, Wu AC

Genetics in Medicine March 2021  

2020

The case for implementing sustainable routine, population-level genomic reanalysis

Lu CY, Hendricks-Sturrup RM, Mazor KM, McGuire AL, Green RC, Rehm HL

Genetics in Medicine | PMID: 31831882 April 2020  

Quantifying downstream health care utilization in studies of genomic testing

Mackay Z, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD

Value in Health March 2020  

Predictive and precision medicine with genomic data

Baudhuin LM, Biesecker LG, Burke W, Green ED, Green RC

Clinical Chemistry January 2020  

2019

FDA oversight of NSIGHT genomic research: The need for an integrated systems approach to regulation

Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF

npj Genomic Medicine December 2019  

Challenging the current recommendations for carrier testing in children

VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA

Pediatrics | PMID: 30600268 January 2019  

Returning a genomic result for an adult-onset condition to the parents of a newborn: Insights from the BabySeq Project

Holm IA, McGuire AL, Pereira S, Rehm HL, Green RC, Beggs AH

Pediatrics | PMID: 30600270 January 2019  

Perceived benefits, risks, and utility of newborn genomic sequencing in the BabySeq Project

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL

Pediatrics January 2019  

Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq Project

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH

American Journal of Human Genetics January 2019  

2018

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report

Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL

Cold Spring Harbor Labratory Press November 2018  

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Khoury MJ, Feero WG, Chambers DA, Brody LE, Aziz N, Green RC, Janssens ACJW, Murray MF, Rodriguez LL, Rutter JL, Schully SD, Winn Dm, Mensah GA

PLoS Medicine August 2018  

The BabySeq Project: Implementing genomic sequencing in newborns

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

BMC Pediatrics July 2018  

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

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

Genetics in Medicine March 2018  

2017

Newborn sequencing in genomic medicine and public health

Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Butler I, Caciki J, Birsoy O, Chan K, Chen F, Currier RJ, Duchovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok P, Lantos J, Leeder J, Lewis MA, McGuire AL, Milko LV, Mooney SD, Veeraraghaven N, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Watson MS, Willig L, Yu TW, Urv T, Wise AL

Pediatrics February 2017