Publications

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 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

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 December 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 April 2022

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 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

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

2019

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 December 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

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

Challenging the current recommendations for carrier testing in children

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

Pediatrics 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 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

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

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 (NSIGHT)

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