Publications

2023

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

The COVID-19 Host Genetics Initiative, Ganna A, Kanai M...Green RC...Law A, Hendry SC, Baillie JK

Nature In Press

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 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 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 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 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

Public perspective on medications to delay Alzheimer’s disease symptoms

Rich MB, Blout Zawatsky CL, Botta JJ, Christensen KD

Journal of the National Society of Genetic Counselors March 2023

Return of results in genomic research using large-scale or whole genome sequencing: Toward a new normal

Wolf SM, Green RC

The Annual Review of Genomics and Human Genetics March 2023

Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey

Vassy JL, Kerman BJ, Harris EJ, Lemke AA, Clayman ML, Antwi AA, MacIsaac K, Yi T, Brunette CA

European Journal of Human Genetics February 2023

Primary care physician use of patient race and polygenic risk scores in medical decision-making

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

Genetics in Medicine February 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

Physicians and patient holding roadmap with DNA helix

Navigating the uncertainty of precision cancer screening: The role of shared decision-making

Gallagher JH, Vassy JL, Clayman ML

Patient Education and Counseling Innovation January 2023

Ancestry: How researchers use it and what they mean by it

Dauda B, Molina SJ, Allen DS, Fuentes A, Ghosh N, Mauro M, Neale BM, Panofsky A, Sohail M, Zhang SR, Lewis ACF

Frontiers in Genetics January 2023

Prioritizing the detection of rare pathogenic variants in population screening

Lacaze P, Manchanda R, Green RC

Nature Reviews Genetics January 2023

Scientist writing on futuristic Smartboard

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Vockley J, Brunetti-Pierri N, Chung WK, Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E

Genetics in Medicine January 2023

Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos

Christensen KD, Zhang M, Galbraith LN, Granot-Hershkovitz E, Nelson SC, Gonzalez S, Argos M, Perreira KM, Daviglus ML, Isasi CR, Cai J, Talavera GA, Blout Zawatsky CL, Green RC, Isasi R, Kaplan R, Sofer T

Human Genetics and Genomics Advances January 2023

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K, eMERGE Consortium, Peterson JF

Genetics in Medicine January 2023

Elective genomic testing: Practice resource of the National Society of Genetic Counselors

Zawatsky CLB, Bick D, Bier L, Funke B, Lebo M, Lewis KL, Orlova E, Qian E, Ryan L, Schwartz MLB, Soper ER

Journal of Genetic Counseling January 2023

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies

Lekstrom-Himes J, Brooks PJ, Koeberl DD, Brower A, Goldenberg A, Green RC, Morris JA, Orsini JJ, Yu TW, Augustine EF

American Journal of 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 December 2022

Workforce considerations when building a precision medicine program

Zawatsky CLB, Leonhard JR, Bell M, Moore MM, Petry NJ, Platt DM, Green RC, Hajek C, Christensen KD

Journal of Personalized Medicine November 2022

Public willingness to participate in population DNA screening in Australia

Tiller JM, Bakshi A, Brotchie AR, Green RC, Winship IM, Lacaze P

Journal of Medical Genetics November 2022

Patient and provider perspectives on polygenic risk scores: Implications for clinical reporting and utilization

Lewis ACF, Perez EF, Prince AER, Flaxman HR, Gomez L, Brockman DG, Chandler PD, Kerman BJ, Lebo MS, Smoller JW, Weiss ST, Zawatsky CLB, Meigs JB, Green RC, Vassy JL, Karlson EW

Genome Medicine October 2022

Performance of EHR classifiers for patient eligibility in a clinical trial of precision medicine

Alexander NVJ, Brunette CA, Guardino ET, Yi T, Kerman BJ, MacIsaac K, Harris EJ, Antwi AA, Vassy JL

Contemporary Clinical Trials September 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

Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history

Raffaele G, Zawatsky CLB, Cottrell C, Santoro SL

American Journal of Medical Genetics July 2022

Effect of pharmacogenomic testing for drug-gene interactions on medication selection and remission of symptoms in major depressive disorder

Oslin DW, Lynch KG, Shih M, Ingram EP, Wray LO, Chapman SR, Kranzler HR, Gelernter J, Pyne JM, Stone A, DuVall SL, Lehmann LS, Thase ME, and the PRIME Care Research Group

JAMA July 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

Association of Pathogenic Variants in Hereditary Cancer Genes with Multiple Diseases

Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC

JAMA Oncology April 2022

Development of clinical polygenic risk score assay and report

Hao L, Kraft P, Berriz G, Hynes ED, Koch C, Kumar PKV, Parpattedar SS, Steeves M, Yu W, Antwi AA, Brunette CA, Danowski M, Gala MK, Green RC, Jones NE, Lewis ACF, Lubitz SA, Natarajan P, Vassy JL, Lebo MS

Nature Medicine April 2022

Population DNA screening for medically actionable disease risks in adults

Lacaze PA, Tiller J, Winship I, Brotchie A, McNeil J, Zalcberg J, Thomas D, Milne R, James P, Delatycki M, Young M, Nowak K, Nguyen-Dumont T, Southey M, Ademi Z, Bruinsma F, Riaz M, Terrill B, Kirk J, Tucker K, Andrews L, Pachter N, Susman R, Poplawski N, Wallis M, Watts G, Nicholls S, Macrae F, Sturm A, Green RC, Ahern S, Von Saldern S, Powell S, Rice T

Medical Journal of Australia March 2022

The reckoning: The return of genomic results to 1,444 participants across the eMERGE3 Network

Leppig K, Rahm AK, Appelbaum P, Aufox S, Bland ST, Buchanan A, Christensen KD, Chung WK, Clayton EW, Crosslin D, Denny J, DeVange S, Gordon A, Green RC, Hakonarson H, Harr MH, Henrikson N, Hoell C, Holm IA, Kullo IJ, Jarvik GP, Lammers PE, Larson EB, Lindor NM, Marasa M, Myers MF

Genetics in Medicine February 2022