Jonathan S. Berg - Publications, H-index & Citations

Jonathan S. Berg

university of north carolina at chapel hill

61H指数

334论文数

2.2W被引数

收录论文 134

发表时间

Deciding “what” to screen for and “when”: The importance of natural history information 决定筛查“什么”以及“何时”进行筛查：自然史信息的重要性

American Journal of Human Genetics

IF8.1

2026-06-23

OAAI

Jahnelle Jackson; Jonathan S. Berg

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?外显子测序在NCGENES 2研究中门诊评估早期应用：是否改变了诊断历程的轨迹？

Human Genetics and Genomics Advances

IF3.6

2026-04-03

OAAI

Tamara S. Roman; Shannon Gray; Tam P. Sneddon; Ann Katherine M. Foreman; Kristy Lee; Cynthia M. Powell; Karen E. Weck; Jonathan S. Berg; Bradford C. Powell

North Carolina primary care provider perspectives on expanded genomic screening in children 北卡罗来纳州初级保健提供者对儿童扩展基因组筛查的看法

BMC Medical Genomics

IF2

2026-01-16

PREAI

Branch, Elizabeth Kathleen; Roberts, Megan C.; Waltz, Margaret; Dejong, Neal A.; Milko, Laura V.; Foreman, Ann Katherine; Foss, Kimberly; Giric, Stefanija; Boynton, Marcella H.; Berg, Jonathan S.; Schilling, Samantha

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing 将Wilson-Jungner原则应用于基因组学时代：新生儿测序国际联盟的共识建议

Genetics in Medicine

IF6.2

2025-10-24

PREAI

Lilian Downie; Julie Yeo; Thomas Minten; Rose Heald; Derek Ansel; Mei Baker; Jorune Balciuniene; Jonathan S. Berg; François Boemer; Wendy K. Chung; Heidi L. Cope; David J. Eckstein; Nicolas Encina; Laurence Faivre; Alessandra Ferlini; Judit García-Villoria; Michael H. Gelb; José Manuel González De Aledo-Castillo; Katie Golden-Grant; Richard B. Parad; Nidhi Shah; Zornitza Stark; Kristen L. Sund; Petros Tsipouras; Meekai To; David Bick; Robert C. Green; Nina B. Gold

Delineating lifetime multimorbidity associated with 16p13.11 duplication: A literature review, meta-analysis, and case study 绘制与16p13.11重复相关的终生多病共存情况：一项文献综述、荟萃分析和病例研究

progress in neuro psychopharmacology biological psychiatry

IF0

2025-07-30

PREAI

Rose Mary Xavier; Wenxin Bian; Fadhah Alshammari; Matthew K. Harner; Tyler E. Dietterich; Maya Lichtenstein; Robert Stowe; Martilias Farrell; Jin P. Szatkiewicz; Rita A. Shaughnessy; Jonathan S. Berg; Patrick F. Sullivan; Richard C. Josiassen

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-02-01

PREAI

Popejoy, Alice B.; Ritter, Deborah I.; Azzariti, Danielle; Berg, Jonathan S.; Bulkley, Joanna E.; Cho, Mildred; Gonzaga-Jauregui, Claudia; Klein, Teri E.; Martschenko, Daphne O.; Oni-Orisan, Akinyemi; Ramos, Erin M.; Rehm, Heidi L.; Riggs, Erin R.; Wright, Matthew W.; Yudell, Michael; Plon, Sharon E.; Morales, Joannella

The Path to Genomic Screening-Far From Simple, but the Journey Has Begun

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

IF55

2025-01-21

PREAI

Berg, Jonathan S.

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

GENETICS IN MEDICINE

IF6.2

2024-12-01

PREAI

Cope, Heidi L.; Milko, Laura, V; Jalazo, Elizabeth R.; Crissman, Blythe G.; Foreman, Ann Katherine M.; Powell, Bradford C.; DeJong, Neal A.; Hunter, Jessica Ezzell; Boyea, Beth Lincoln; Forsythe, Ana N.; Wheeler, Anne C.; Zimmerman, Rebekah S.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Monaghan, Kristin G.; Kraczkowski, Christina; Hruska, Kathleen S.; Kruszka, Paul; Kucera, Katerina S.; Berg, Jonathan S.; Powell, Cynthia M.; Peay, Holly L.

Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter

GENETICS IN MEDICINE

IF6.2

2024-12-01

PREAI

Angelo, Frank; Waltz, Margaret; Yan, Haoyang; Berg, Jonathan S.; Foreman, Ann Katherine M.; O'Daniel, Julianne; Rini, Christine

Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

AMERICAN JOURNAL OF KIDNEY DISEASES

IF8.2

2024-12-01

PREAI

Franceschini, Nora; Feldman, David L.; Berg, Jonathan S.; Besse, Whitney; Chang, Alexander R.; Dahl, Neera K.; Gbadegesin, Rasheed; Pollak, Martin R.; Rasouly, Hila Milo; Smith, Richard J. H.; Winkler, Cheryl A.; Gharavi, Ali G.

Implementation of a dyadic nomenclature for monogenic diseases

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-09-01

PREAI

Thaxton, Courtney; Biesecker, Leslie G.; DiStefano, Marina; Haendel, Melissa; Hamosh, Ada; Owens, Emma; Plon, Sharon E.; Rehm, Heidi L.; Berg, Jonathan S.

Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms

ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE

IF6

2024-08-23

PREAI

Wright, Matt W.; Thaxton, Courtney L.; Nelson, Tristan; DiStefano, Marina T.; Savatt, Juliann M.; Brush, Matthew H.; Cheung, Gloria; Mandell, Mark E.; Wulf, Bryan; Ward, T. J.; Goehringer, Scott; O'Neill, Terry; Weller, Phil; Preston, Christine G.; Keseler, Ingrid M.; Goldstein, Jennifer L.; Strande, Natasha T.; Mcglaughon, Jennifer; Azzariti, Danielle R.; Cordova, Ineke; Dziadzio, Hannah; Babb, Lawrence; Riehle, Kevin; Milosavljevic, Aleksandar; Martin, Christa Lese; Rehm, Heidi L.; Plon, Sharon E.; Berg, Jonathan S.; Riggs, Erin R.; Klein, Teri E.

The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. (vol 12, 692, 2022)

JOURNAL OF PERSONALIZED MEDICINE

IF3

2024-02-22

OAAI

Foss, Kimberly S.; O'Daniel, Julianne M.; Berg, Jonathan S.; Powell, Sabrina N.; Cadigan, Rosemary Jean; Kuczynski, Kristine J.; Milko, Laura V.; Saylor, Katherine W.; Roberts, Megan; Weck, Karen; Henderson, Gail E.

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms

GENETICS IN MEDICINE

IF6.2

2024-02-01

OAAI

Roberts, Angharad M.; DiStefano, Marina T.; Riggs, Erin Rooney; Josephs, Katherine S.; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S.; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen, V; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L.; McDonagh, Ellen M.; Perrett, Daniel; Ramos, Erin M.; Robinson, Peter N.; Rath, Ana; Sant, David W.; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L.; Ware, James S.

Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study

GENETICS IN MEDICINE

IF6.2

2023-09-01

OAAI

Slavotinek, Anne; Prasad, Hannah; Outram, Simon; Scollon, Sarah; Rego, Shannon; Yip, Tiffany; Hoban, Hannah; Foreman, Kate M.; Kelley, Whitley; Finnila, Candice; Berg, Jonathan; Murali, Priyanka; Bonini, Katherine E.; Martin, Lisa J.; Hott, Adam

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

PEDIATRICS

IF6.4

2023-07-20

PREAI

Smith, Hadley Stevens; Ferket, Bart S. S.; Gelb, Bruce D. D.; Hindorff, Lucia; Ferar, Kathleen D. D.; Norton, Mary E. E.; Sahin-Hodoglugil, Nuriye; Slavotinek, Anne; Lich, Kristen Hasmiller; Berg, Jonathan S. S.; Russell, Heidi V. V.

Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2023-06-27

OAAI

Milko, Laura V.; Berg, Jonathan S.

Uromodulin and CKD: insight into variant pathogenicity

KIDNEY INTERNATIONAL

IF12.6

2023-02-01

PREAI

Franceschini, Nora; Berg, Jonathan S.

Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis

SCHIZOPHRENIA BULLETIN

IF4.8

2022-12-01

OAAI

Farrell, Martilias; Dietterich, Tyler E.; Harner, Matthew K.; Bruno, Lisa M.; Filmyer, Dawn M.; Shaughnessy, Rita A.; Lichtenstein, Maya L.; Britt, Allison M.; Biondi, Tamara F.; Crowley, James J.; Lazaro-Munoz, Gabriel; Forsingdal, Annika E.; Nielsen, Jacob; Didriksen, Michael; Berg, Jonathan S.; Wen, Jia; Szatkiewicz, Jin; Xavier, Rose Mary; Sullivan, Patrick F.; Josiassen, Richard C.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources 基因策展联盟: 协调基因疾病证据资源的全球努力

GENETICS IN MEDICINE

IF6.2

2022-08-01

OAAI

DiStefano, Marina T.; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Austin-Tse, Christina; Balzotti, Marie; Berg, Jonathan S.; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth A.; Coffey, Alison J.; Collins, Heather; Cunningham, Fiona; Daugherty, Louise C.; Einhorn, Yaron; Firth, Helen, V; Fitzpatrick, David R.; Foulger, Rebecca E.; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew R.; Leigh, Sarah E.; Leong, Ivone U. S.; Maddirevula, Sateesh; Martin, Christa L.; McDonagh, Ellen M.; Olry, Annie; Puzriakova, Arina; Radtke, Kelly; Ramos, Erin M.; Rath, Ana; Riggs, Erin Rooney; Roberts, Angharad M.; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Tweedie, Susan; Ware, James S.; Weller, Phillip; Williams, Eleanor; Wright, Caroline F.; Yates, Thabo Michael; Rehm, Heidi L.

研究方向