Publications

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 In Press

Non-adherence to guidelines for genetic testing in families with ovarian cancer shows racial bias

Omorodion JO, Nathan A, Lipsitz S, Koyama S, Perez E, Green RC, Natarajan P, Gold NB

Genetics In Medicine April 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

Critical bottlenecks in rare disease research and care: A community perspective

McMurry J, Sizer A, Allaway R, Boerkoel C, Chen AJ, Colquitt J, Cummings J, Dutta A, Fitter N, Green RC, Hanson A, Harker E, Harris N, Hovinga C, Kahn A, Keil H, Kessler R, Lange L, Loaiza-Bonilla A, Luchkina N, Luellen E, Movaghar A, Pastinen T, Rountree E, Rudrapatna V, Sand A, Schmolly K, Short P, Sirota M, Siwo G, Tatonetti N, Vidra N, Vij F, Volchenboum S, Walden A, Walls RL, Washington P, Wenzlau D, Wenzlau M, Wheeler M, Son Rigby C, Haendel M

Zenodo February 2025

Longitudinal evaluation of genetic hypertrophic cardiomyopathy penetrance and transition to disease in an academic biobank

Shin JY, Small A, Blout Zawatsky CL, Fifer M, Tower-Rader A, Green RC, Lebo M, Natarajan P

JACC: Advances January 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

Overview of Alzheimer’s Disease Neuroimaging Initiative and future clinical trials

Weiner MW, Kanoria S, Miller MJ, Aisen PS, Beckett LA, Conti C, Diaz A, Flenniken D, Green RC, Harvey DJ, Jack CR, Jagust W, Lee EB, Morris JC, Nho K, Nosheny R, Okonkwo OC, Perrin PJ, Petersen RC, Rivera-Mindt M, Saykin AJ, Shaw LM, Toga AW, Tosun D, Veitch DP, for the Alzheimer's Disease Neuroimaging Intitiative

Alzheimer's and Dementia 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

The ADNI Administrative Core: Ensuring ADNI’s success and informing future AD clinical trials

Nosheny RL, Miller M, Conti C, Flenniken D, Ashford M, Diaz A, Fockler J, Truran D, Kwang W, Kanoria S, Veitch D, Green RC, Weiner MW for the Alzheimer's Disease Neuroimaging Initiative

Alzheimer's and Dementia November 2024

Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries

Garcia-Marin LM, Campos AI, Diaz-Torres S, .....Green RC....Satizabal CL, Medland SE, Renteria ME

Nature Genetics October 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 | PMID: 39355980 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

Defining and pursuing diversity in human genetic studies

Raven-Adams MC, Hernandez-Boussard T, Joly Y, Knoppers BM, Chandrasekharan S, Thorogood A, Kumuthini J, Loon Ho CW, Gonzalez A, Nelson SC, Bombard Y, Thaldar D, Liu H, Costa A, Muralidharan V, Henriques S, Nasir J, Lumaka A, Kaiser B, Jamuar SS, Lewis ACF

Nature 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

Primary care providers’ experiences with an active elective genetic testing program

Platt DM, Blout Zawatsky CL, Christensen KD, Green RC, Hajek CH, Hickingbotham MR, Hutchinson AM, LeBlanc JL, Zoltick ES, Jamal L

Journal of Health Education and Behavior | PMID: 39081055 July 2024

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program

Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho Y, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F, Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitebourne S, Cohen J, Posner DC, Sangar R, Murrary M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh S, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP

Science July 2024

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service

Zoltick ES, Bell M, Hickingbotham MR, Wu AC, Galbraith LN, LeBlanc JL, Lu CY, Leonhard JR, Platt DM, Smith HS, Green RC, Hajek C, Christensen KD

Genetics in Medicine | PMID: 38943480 June 2024

Health-literate care organizations for precision health

Vassy JL, Scheuner MT, Clayman ML

Genetics in Medicine | PMID: 38907621 June 2024

Managing differential performance of polygenic risk scores across groups: real-world experience of the eMERGE Network

Lewis ACF, Chisholm RL, Connolly JJ, Esplin ED, Glessner J, Gordon A, Green RC, Hakonarson H, Harr M, Holm IA, Jarvik GP, Karlson B, Kenny EE, Kottyan L, Lennon N, Linder JE, Luo Y, Martin L, Perez E, Puckelwartz MJ, Rasmussen-Torvik LJ, Sabatello M, Sharp RR, Smoller JW, Sterling R, Terek S, Wei W, Fullerton SM

The American Journal of Human Genetics June 2024

Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates

Liang JW, Christensen KD, Green RC, Kraft P

npj Genomic Medicine May 2024

Familial communication and cascade testing following elective genomic testing

Adelson SM, Blout Zawatsky CL, Hickingbotham MR, Bell ME, Platt DM, Leonhard JR, Zoltick ES, Hajek CA, Green RC, Christensen KD

Journal of Genetic Counseling | PMID: 38757439 May 2024

Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program

Brunette CA, Yi T, Danowski ME, Cardellino M, Harrison A, Assimes TL, Knowles JW, Christensen KD, Sturm AC, Sun YV, Hui Q, Pyarajan S, Shi Y, Whitbourne SB, Gaziano JM, Muralidhar S, Vassy JL

Journal of the American Medical Informatics Association | PMID: 38464744 March 2024

Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting

Massmann A, Christensen KD, Van Heukelom J, Schultz A, Shaukat MHS, Hajek C, Weaver M, Green RC, Wu AC, Hickingbotham MR, Zoltick ES, Stys A, Stys TP

European Journal of Human Genetics | PMID: 38424298 February 2024

Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion

Kerman J, Zawatsky CBL, Fieg E, Frank NY, Donnelly RS, Green RC, Kennedy JC, Lakdawala Neal, Licurse AM, Perez EF, Preys CL, Krier JB, Rana HQ, Zettler B, Vassy JL

Genetics in Medicine Open February 2024

Helping patients understand multi-cancer early detection tests: a scoping review

Greene MP, Vassy J

Precision Medicine January 2024

Ready or not, genomic screening of fetuses is already here

Gold NB, Nadel A, Green RC

Genetics in Medicine January 2024

2023

Data from a national survey of United States primary care physicians on genetic risk scores for common disease prevention

Brunette CA, Harris EJ, Antwi AA, Lemke AA, Kerman BJ, Vassy JL

Data in Brief December 2023

Combined population genomic screening for three high-risk conditions in Australia: a modelling study

Lacaze P, Marquina C, Tiller J, Brotchie A, Kang Y, Merritt M, Green RC, Watts GF, Nowak KJ, Manchada R, Canfell K, James P, Winship I, McNeil J, Ademi Z

eClinicalMedicine November 2023

The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care

Vassy JL, Brunette CA, Lebo MS, MacIsaac K, Yi T, Danowski ME, Alexander NVJ, Cardellino MP, Christensen KD, Gala M, Green RC, Harris E, Jones NE, Kerman BJ, Kraft P, Kulkarni P, Lewis ACF, Lubitz SA, Natarajan P, Antwi AA

The American Journal of Human Genetics November 2023

A second update on mapping the human genetic architecture of COVID-19

The COVID-19 Host Genetics Initiative, Kanai M, Andrews SJ...Green RC...Bircham S, Liggett S, Patil A

Nature September 2023

The Alzheimer’s Disease Neuroimaging Intitiative in the era of Alzheimer’s disease treatment: A review of ADNI studies from 2021 to 2022

Veitch DP, Weiner, MW, Miller M, Aisen PS, Ashford MA, Beckett LA, Green RC, Harvey D, Jack CR Jr., Jagust W, Landau SM, Morris JC, Nho KT, Nosheny R, Okonkwo O, Perrin RJ, Petersen RC, Rivera Mindt M, Saykin A, Shaw LM, Toga AW, Tosun D for the Alzheimer's Disease Neuroimaging Initiative

The Journal of the Alzheimer's Association August 2023

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D, Regeneron Genetics Center, Penn Medicine BioBank, Green RC, Gold NB

Human Genetics and Genomics Advances | PMID: 37593415 July 2023

Attitudes about pharmacogenomic testing vary by healthcare specialty

Preys CL, Blout Zawatsky CL, Massmann A, Van Heukelom J, Green RC, Hajek C, Hickingbotham MR, Zoltick ES, Schultz A, Christensen KD

Pharmacogenomics | PMID: 37458095 July 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

SLCO1B1 gene-based clinical decision support reduces statin associated muscle symptom risk with simvastatin

Massmann A, Van Heukelom J, Green RC, Hajek C, Hickingbotham MR, Larson EA, Lu CY, Wu AC, Zoltick ES, Christensen KD, Schultz A

Pharmacogenomics | PMID: 37232094 May 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

An ethical framework for research using genetic ancestry

Lewis ACF, Molina SJ, Appelbaum PS, Dauda B, Fuentes A, Fullerton SM, Garrison NA, Ghosh N, Green RC, Hammonds EM, Jeff JM, Jones DS, Kenny EE, Kraft P, Mauro M, Ori APS, Panofsky A, Sohail M, Neale BM, Allen DS

Perspectives in Biology and Medicine May 2023

Cardiovascular disease risk assessment using traditional risk factors and polygenic risk scores in the Million Veteran Program

Vassy JL, Posner DC, Ho YL, Gagnon DR, Galloway A, Tanukonda V, Houghton SC, Madduri RK, McMahon BH, Tsao PS, Damrauer SM, O’Donnell CJ, Assimes TL, Casas JP, Gaziano JM,Pencina MJ, Sun YV, Cho K, Wilson PWF

JAMA Cardiology May 2023