J. Raphael Gibbs - Publications, H-index & Citations

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J. Raphael Gibbs

national institutes of health

84H-index

278Paper Count

3.5WCitation Count

Published Papers 126

Publication Date

Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions

npj Genomic Medicine

IF4.8

2026-04-09

OAAI

Fulya Akçimen; Monica Diez-Fairen; Ignacio Alvarez; Victor Puente; Spencer Grant; Jorge Hernandez-Vara; Marzieh Khani; Mariateresa Buongiorno; Félix Javier Jiménez-Jiménez; José A. G. Agúndez; Miquel Aguilar; Esther Cubo; Jesus Perez; Javier Pagonabarraga; Núria Caballol; Asuncion Avila; Jinhui Ding; Elena García-Martín; Hortensia Alonso-Navarro; Yaroslau Compta; Carlos Cruchaga; Katrin Beyer; J. Raphael Gibbs; Andrew Singleton; Sara Bandres-Ciga; Pau Pastor

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Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

Annals of Neurology

IF7.7

2025-11-07

OAAI

Marios Gavrielatos MSc; Michael G. Heckman MS; Alexandra I. Soto-Beasley MS; Sophia G. Blumenfeld BSc; Xu Hou PhD; Shunsuke Koga MD, PhD; Melissa E. Murray PhD; Koji Kasanuki MD, PhD; Daisuke Ono MD, PhD; Fabienne C. Fiesel PhD; Ryan J. Uitti MD; Julie A. Fields PhD LP; Hugo Botha MB ChB; Vijay K. Ramanan MD PhD; Kejal Kantarci MD; Val J. Lowe MD; Clifford R. Jack MD; Nilufer Ertekin-Taner MD PhD; J. Raphael Gibbs PhD; Bryan J. Traynor MD PhD; Clifton L. Dalgard PhD; Rodolfo Savica MD PhD; Jonathan Graff-Radford MD; Ronald C. Petersen MD PhD; R. Ross Reichard MD; Neill R. Graff-Radford MD; Tanis J. Ferman PhD; Bradley F. Boeve MD; Zbigniew K. Wszolek MD; Wolfdieter Springer PhD; Ziv Gan-Or MD PhD; Emmanuel Mignot MD PhD; Sonja W. Scholz MD PhD; Dennis W. Dickson MD; Owen A. Ross PhD

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Decreased SNCA expression in whole-blood RNA analysis of Parkinson’s disease adjusting for neutrophils

npj Parkinson's Disease

IF8.2

2025-10-14

OAAI

Kayla Y. Xu; Ivo Violich; Elizabeth Hutchins; Eric Alsop; Mike A. Nalls; Anni Moore; Cornelis Blauwendraat; J. Raphael Gibbs; Mark R. Cookson; Kendall Van Keuren-Jensen; David W. Craig

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Cerebellum mitochondrial DNA copy number is increased in Parkinson’s disease

Brain Communications

IF4.5

2025-08-20

OAAI

Talia Beglarian; David R Tyrpak; J Raphael Gibbs; John Andrew MacKay; Sonja W Scholz; Bryan J Traynor; Marilyn S Albert; Liana S Rosenthal; Ted M Dawson; Juan C Troncoso; Dena G Hernandez; Mark R Cookson; Charles H Adler; Geidy Serrano; Andrew B Singleton; Thomas G Beach; Brooke E Hjelm

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A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis

Nature Medicine

IF50

2025-08-19

OAAI

Ruth Chia; Ruin Moaddel; Justin Y. Kwan; Memoona Rasheed; Paola Ruffo; Natalie Landeck; Paolo Reho; Rosario Vasta; Andrea Calvo; Cristina Moglia; Antonio Canosa; Umberto Manera; Allison Snyder; Sara Saez-Atienzar; Maurizio Grassano; Maura Brunetti; Federico Casale; Anindita Ray; Kumar Arvind; Betul Comertpay; Min Zhu; J. Raphael Gibbs; Camille Alba; Ted M. Dawson; Liana S. Rosenthal; Anna J. Hall; Alexander Y. Pantelyat; Derek P. Narendra; Debra J. Ehrlich; Keenan A. Walker; Peter Kosa; Bibiana Bielekova; Josephine M. Egan; Julián Candia; Toshiko Tanaka; Luigi Ferrucci; Clifton L. Dalgard; Sonja W. Scholz; Adriano Chiò; Bryan J. Traynor

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Intermediate HTT CAG repeats worsen disease severity in amyotrophic lateral sclerosis

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2024-09-06

PREAI

Grassano, Maurizio; Canosa, Antonio; D'Alfonso, Sandra; Corrado, Lucia; Brodini, Giorgia; Koumantakis, Emanuele; Cugnasco, Paolo; Manera, Umberto; Vasta, Rosario; Palumbo, Francesca; Mazzini, Letizia; Gallone, Salvatore; Moglia, Cristina; Dewan, Ramita; Chia, Ruth; Ding, Jinhui; Dalgard, Clifton; Gibbs, Raphael J.; Scholz, Sonja; Calvo, Andrea; Traynor, Bryan; Chio, Adriano

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Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

NPJ PARKINSONS DISEASE

IF8.2

2024-07-26

OAAI

Jerez, Pilar Alvarez; Daida, Kensuke; Grenn, Francis P.; Malik, Laksh; Miano-Burkhardt, Abigail; Makarious, Mary B.; Ding, Jinhui; Gibbs, J. Raphael; Moore, Anni; Reed, Xylena; Nalls, Mike A.; Shah, Syed; Mahmoud, Medhat; Sedlazeck, Fritz J.; Dolzhenko, Egor; Park, Morgan; Iwaki, Hirotaka; Casey, Bradford; Ryten, Mina; Blauwendraat, Cornelis; Singleton, Andrew B.; Billingsley, Kimberley J.

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Genome sequence analyses identify novel risk loci for multiple system atrophy

NEURON

IF15

2024-07-01

OAAI

Chia, Ruth; Ray, Anindita; Shah, Zalak; Ding, Jinhui; Ruffo, Paola; Fujita, Masashi; Menon, Vilas; Saez-Atienzar, Sara; Reho, Paolo; Kaivola, Karri; Walton, Ronald L.; Reynolds, Regina H.; Karra, Ramita; Sait, Shaimaa; Akcimen, Fulya; Diez-Fairen, Monica; Alvarez, Ignacio; Fanciulli, Alessandra; Stefanova, Nadia; Seppi, Klaus; Duerr, Susanne; Leys, Fabian; Krismer, Florian; Sidoroff, Victoria; Zimprich, Alexander; Pirker, Walter; Rascol, Olivier; Foubert-Samier, Alexandra; Meissner, Wassilios G.; Tison, FrancOis; Pavy-Le Traon, Anne; Pellecchia, Maria Teresa; Barone, Paolo; Russillo, Maria Claudia; Marin-Lahoz, Juan; Kulisevsky, Jaime; Torres, Soraya; Mir, Pablo; Perinan, Maria Teresa; Proukakis, Christos; Chelban, Viorica; Wu, Lesley; Goh, Yee Y.; Parkkinen, Laura; Hu, Michele T.; Kobylecki, Christopher; Saxon, Jennifer A.; Rollinson, Sara; Garland, Emily; Biaggioni, Italo; Litvan, Irene; Rubio, Ileana; Alcalay, Roy N.; Kwei, Kimberly T.; Lubbe, Steven J.; Mao, Qinwen; Flanagan, Margaret E.; Castellani, Rudolph J.; Khurana, Vikram; Ndayisaba, Alain; Calvo, Andrea; Mora, Gabriele; Canosa, Antonio; Floris, Gianluca; Bohannan, Ryan C.; Moore, Anni; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Kaufmann, Horacio; Kim, Changyoun; Iba, Michiyo; Masliah, Eliezer; Dawson, Ted M.; Rosenthal, Liana S.; Pantelyat, Alexander; Albert, Marilyn S.; Pletnikova, Olga; Troncoso, Juan C.; Infante, Jon; Lage, Carmen; Sanchez-Juan, Pascual; Serrano, Geidy E.; Beach, Thomas G.; Pastor, Pau; Morris, Huw R.; Albani, Diego; Clarimon, Jordi; Wenning, Gregor K.; Hardy, John A.; Ryten, Mina; Topol, Eric; Torkamani, Ali; Chio, Adriano; Bennett, David A.; De Jager, Philip L.; Low, Philip A.; Singer, Wolfgang; Cheshire, William P.; Wszolek, Zbigniew K.; Dickson, Dennis W.; Traynor, Bryan J.; Gibbs, J. Raphael; Dalgard, Clifton L.; Ross, Owen A.; Houlden, Henry; Scholz, Sonja W.

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Profiling complex repeat expansions in RFC1 in Parkinson's disease

NPJ PARKINSONS DISEASE

IF8.2

2024-05-24

OAAI

Jerez, Pilar Alvarez; Daida, Kensuke; Miano-Burkhardt, Abigail; Iwaki, Hirotaka; Malik, Laksh; Cogan, Guillaume; Makarious, Mary B.; Sullivan, Roisin; Vandrovcova, Jana; Ding, Jinhui; Gibbs, J. Raphael; Markham, Androo; Nalls, Mike A.; Kesharwani, Rupesh K.; Sedlazeck, Fritz J.; Casey, Bradford; Hardy, John; Houlden, Henry; Blauwendraat, Cornelis; Singleton, Andrew B.; Billingsley, Kimberley J.

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Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci

NPJ PARKINSONS DISEASE

IF8.2

2024-02-20

OAAI

Bayram, Ece; Reho, Paolo; Litvan, Irene; Ding, Jinhui; Gibbs, J. Raphael; Dalgard, Clifton L.; Traynor, Bryan J.; Scholz, Sonja W.; Chia, Ruth

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Association of cardiovascular disease management drugs with Lewy body dementia: a case-control study

BRAIN COMMUNICATIONS

IF4.5

2023-12-18

OAAI

Scholz, Sonja W.; Moroz, Brian E.; Saez-Atienzar, Sara; Chia, Ruth; Cahoon, Elizabeth K.; Dalgard, Clifton L.; Dalgard, Clifton L.; Adeleye, Adelani; Soltis, Anthony R.; Alba, Camille; Viollet, Coralie; Bacikova, Dagmar; Hupalo, Daniel N.; Sukumar, Gauthaman; Pollard, Harvey B.; Wilkerson, Matthew D.; Martinez, Elisa McGrath; Black, Sandra E.; Gan-Or, Ziv; Keith, Julia; Masellis, Mario; Rogaeva, Ekaterina; Brice, Alexis; Lesage, Suzanne; Xiromerisiou, Georgia; Calvo, Andrea; Canosa, Antonio; Chio, Adriano; Logroscino, Giancarlo; Mora, Gabriele; Krueger, Reijko; May, Patrick; Alcolea, Daniel; Clarimon, Jordi; Fortea, Juan; Gonzalez-Aramburu, Isabel; Infante, Jon; Lage, Carmen; Lleo, Alberto; Pastor, Pau; Sanchez-Juan, Pascual; Brett, Francesca; Aarsland, Dag; Al-Sarraj, Safa; Attems, Johannes; Gentleman, Steve; Hardy, John A.; Hodges, Angela K.; Love, Seth; Mckeith, Ian G.; Morris, Christopher M.; Morris, Huw R.; Palmer, Laura; Pickering-Brown, Stuart; Ryten, Mina; Thomas, Alan J.; Troakes, Claire; Albert, Marilyn S.; Barrett, Matthew J.; Beach, Thomas G.; Bekris, Lynn M.; Bennett, David A.; Boeve, Bradley F.; Dalgard, Clifton L.; Dawson, Ted M.; Dickson, Dennis W.; Ferman, Tanis; Ferrucci, Luigi; Flanagan, Margaret E.; Foroud, Tatiana M.; Ghetti, Bernardino; Gibbs, J. Raphael; Goate, Alison; Goldstein, David S.; Graff-Radford, Neill R.; Kantarci, Kejal; Kaufmann, Horacio; Kukull, Walter A.; Leverenz, James B.; Mao, Qinwen; Masliah, Eliezer; Monuki, Edwin; Newell, Kathy L.; Palma, Jose-Alberto; Perkins, Matthew; Pletnikova, Olga; Renton, Alan E.; Resnick, Susan M.; Rosenthal, Liana S.; Ross, Owen A.; Scherzer, Clemens R.; Serrano, Geidy E.; Shakkottai, Vikram G.; Sidransky, Ellen; Tanaka, Toshiko; Topol, Eric; Torkamani, Ali; Traynor, Bryan J.; Troncoso, Juan C.; Woltjer, Randy; Wszolek, Zbigniew K.; Scholz, Sonja W.; Freedman, Daryl Michal; Pfeiffer, Ruth M.

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Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease

MOVEMENT DISORDERS

IF7.6

2023-11-05

OAAI

Daida, Kensuke; Funayama, Manabu; Billingsley, Kimberley J.; Malik, Laksh; Miano-Burkhardt, Abigail; Leonard, Hampton L.; Makarious, Mary B.; Iwaki, Hirotaka; Ding, Jinhui; Gibbs, J. Raphael; Ishiguro, Mayu; Yoshino, Hiroyo; Ogaki, Kotaro; Oyama, Genko; Nishioka, Kenya; Nonaka, Risa; Akamatsu, Wado; Blauwendraat, Cornelis; Hattori, Nobutaka

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Large-scale rare variant burden testing in Parkinson's disease

BRAIN

IF11.7

2023-06-22

OAAI

Makarious, Mary B.; Lake, Julie; Pitz, Vanessa; Fu, Allen Ye; Guidubaldi, Joseph L.; Solsberg, Caroline Warly; Bandres-Ciga, Sara; Leonard, Hampton L.; Kim, Jonggeol Jeffrey; Billingsley, Kimberley J.; Grenn, Francis P.; Jerez, Pilar Alvarez; Alvarado, Chelsea X.; Iwaki, Hirotaka; Ta, Michael; Vitale, Dan; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Scholz, Sonja W.; Traynor, Bryan J.; Dalgard, Clifton L.; Ehrlich, Debra J.; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G.; Serrano, Geidy E.; Real, Raquel; Morris, Huw R.; Ding, Jinhui; Gibbs, J. Raphael; Singleton, Andrew B.; Nalls, Mike A.; Bhangale, Tushar; Blauwendraat, Cornelis

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The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism

CELL GENOMICS

IF9

2023-03-01

OAAI

Bressan, Elisangela; Reed, Xylena; Bansal, Vikas; Hutchins, Elizabeth; Cobb, Melanie M.; Webb, Michelle G.; Alsop, Eric; Grenn, Francis P.; Illarionova, Anastasia; Savytska, Natalia; Violich, Ivo; Broeer, Stefanie; Fernandes, Noemia; Sivakumar, Ramiyapriya; Beilina, Alexandra; Billingsley, Kimberley J.; Berghausen, Joos; Pantazis, Caroline B.; Pitz, Vanessa; Patel, Dhairya; Daida, Kensuke; Meechoovet, Bessie; Reiman, Rebecca; Courtright-Lim, Amanda; Logemann, Amber; Antone, Jerry; Barch, Mariya; Kitchen, Robert; Li, Yan; Amer Genome Ctr, Patrizia; Rizzu, Patrizia; Hernandez, Dena G.; Hjelm, Brooke E.; Nalls, Mike; Gibbs, J. Raphael; Finkbeiner, Steven; Cookson, Mark R.; Van Keuren-Jensen, Kendall; Craig, David W.; Singleton, Andrew B.; Heutink, Peter; Blauwendraat, Cornelis

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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

BRAIN

IF11.7

2023-02-17

OAAI

Zanovello, Matteo; Ibanez, Kristina; Brown, Anna-Leigh; Sivakumar, Prasanth; Bombaci, Alessandro; Santos, Liana; van Vugt, Joke J. F. A.; Narzisi, Giuseppe; Karra, Ramita; Scholz, Sonja W.; Ding, Jinhui; Gibbs, J. Raphael; Chio, Adriano; Dalgard, Clifton; Weisburd, Ben; Hanna, Michael G.; Greensmith, Linda; Phatnani, Hemali; Veldink, Jan H.; Traynor, Bryan J.; Polke, James; Houlden, Henry; Fratta, Pietro; Tucci, Arianna

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Genome-Wide Analysis of Structural Variants in Parkinson Disease

ANNALS OF NEUROLOGY

IF7.7

2023-02-03

OAAI

Billingsley, Kimberley J.; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P.; Makarious, Mary B.; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth W.; Scholz, Sonja J.; Traynor, Bryan L.; Dalgard, Clifton J.; Ehrlich, Debra; Tanaka, Toshiko; Ferrucci, Luigi G.; Beach, Thomas E.; Serrano, Geidy P.; Quinn, John J.; Bubb, Vivien; Collins, Ryan L.; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison E.; Talkowski, Michael; Casey, Bradford; Cookson, Mark R.; Markham, Androo A.; Nalls, Mike; Mahmoud, Medhat; Sedlazeck, Fritz J.; Blauwendraat, Cornelis; Gibbs, J. Raphael B.; Singleton, Andrew

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Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk

BRAIN

IF11.7

2022-11-09

OAAI

Bustos, Bernabe, I; Billingsley, Kimberley; Blauwendraat, Cornelis; Gibbs, J. Raphael; Gan-Or, Ziv; Krainc, Dimitri; Singleton, Andrew B.; Lubbe, Steven J.

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Association of a common genetic variant with Parkinson's disease is mediated by microglia

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2022-07-27

OAAI

Langston, Rebekah G.; Beilina, Alexandra; Reed, Xylena; Kaganovich, Alice; Singleton, Andrew B.; Blauwendraat, Cornelis; Gibbs, J. Raphael; Cookson, Mark R.

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Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

MOVEMENT DISORDERS

IF7.6

2022-07-22

PREAI

Billingsley, Kimberley J.; Alvarez Jerez, Pilar; Grenn, Francis P.; Bandres-Ciga, Sara; Malik, Laksh; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Scholz, Sonja W.; Traynor, Bryan J.; Dalgard, Clifton L.; Ehrlich, Debra J.; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G.; Serrano, Geidy E.; Ding, Jinhui; Gibbs, J. Raphael; Blauwendraat, Cornelis; Singleton, Andrew B.

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Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease

BRAIN

IF11.7

2022-05-31

OAAI

Zhu, William; Huang, Xiaoping; Yoon, Esther; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Billingsley, Kimberly J.; Cade, Joshua H.; Wu, Beverly P.; Williams, Victoria H.; Schindler, Alice B.; Brooks, Janet; Gibbs, J. Raphael; Hernandez, Dena G.; Ehrlich, Debra; Singleton, Andrew B.; Narendra, Derek P.

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Research Directions