Beryl B. Cummings

broad institute of mit and harvard

H指数:45

被引数:3.5万

个人简介

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教育背景

暂无内容

工作经历

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荣誉奖项

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Development and characterization of a long-acting allosteric growth hormone receptor antagonist for acromegaly

长效别构生长激素受体拮抗剂的开发与表征：用于肢端肥大症

Endocrinology

IF3.3

2026-08-070

OAAI

Plasmodium falciparum gene expression signatures and antibody profiling implicate the fikk, phist, and surf multigene families in severe malaria syndromes

恶性疟原虫基因表达特征和抗体分析表明fikks、phist和surfs多基因家族参与重症疟疾综合征

Journal of Infection

IF11.9

2025-11-120

OAAI

A shared inflammatory signature across severe malaria syndromes manifested by transcriptomic, proteomic and metabolomic analyses

通过转录组、蛋白质组及代谢组分析，严重疟疾综合征中呈现出一种共同的炎症特征。

NATURE COMMUNICATIONS

IF15.7

2025-05-180

Sobota, Rafal S.; Stucke, Emily M.; Coulibaly, Drissa; Lawton, Jonathan G.; Cummings, Bryan E.; Sebastian, Savy; Dara, Antoine; Munro, James B.; Ouattara, Amed; Kone, Abdoulaye K.; Kane, Bourama; Traore, Karim; Guindo, Boureima; Tangara, Bourama M.; Niangaly, Amadou; Ventimiglia, Noah T.; Daou, Modibo; Diarra, Issa; Tolo, Youssouf; Sissoko, Mody; Maiga, Faycal; Diawara, Aichatou; Traore, Amidou; Thera, Ali; Laurens, Matthew B.; Lyke, Kirsten E.; Kouriba, Bourema; Doumbo, Ogobara K.; Plowe, Christopher V.; Goodlett, David R.; Silva, Joana C.; Thera, Mahamadou A.

An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primates

ANGPTL4抑制性抗体安全地改善了非人灵长类动物的血脂谱。

eBioMedicine

IF10.8

2025-05-120

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain

IF11.7

2025-04-030

A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

NATURE GENETICS

IF31.8

2024-03-017

OAAI

Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker

Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits

DIABETES

IF7.5

2024-02-126

Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2024-01-179

PRE

Ullman, Julie C.; Mellem, Kevin T.; Xi, Yannan; Ramanan, Vyas; Merritt, Hanne; Choy, Rebeca; Gujral, Tarunmeet; Young, Lyndsay E. A.; Blake, Kerrigan; Tep, Samnang; Homburger, Julian R.; O'Regan, Adam; Ganesh, Sandya; Wong, Perryn; Satterfield, Terrence F.; Lin, Baiwei; Situ, Eva; Yu, Cecile; Espanol, Bryan; Sarwaikar, Richa; Fastman, Nathan; Tzitzilonis, Christos; Lee, Patrick; Reiton, Daniel; Morton, Vivian; Santiago, Pam; Won, Walter; Powers, Hannah; Cummings, Beryl B.; Hoek, Maarten; Graham, Robert R.; Chandriani, Sanjay J.; Bainer, Russell; DePaoli-Roach, Anna A.; Roach, Peter J.; Hurley, Thomas D.; Sun, Ramon C.; Gentry, Matthew S.; Sinz, Christopher; Dick, Ryan A.; Noonberg, Sarah B.; Beattie, David T.; Morgans Jr, David J.; Green, Eric M.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

基因组尸检以确定妊娠丢失和围产儿死亡的根本原因

NATURE MEDICINE

IF50

2023-01-1924

OAAI

Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui

Transcriptome variation in human tissues revealed by long-read sequencing

Nature

IF48.5

2022-08-030

PRE

Genetic reduction of muscle glycogen is well tolerated in UK Biobank participants

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-012

PRE

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

EMBO MOLECULAR MEDICINE

IF8.3

2021-11-1510

OAAI

Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Hauserman, Janelle Geist; Cummings, Beryl B.; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S.; Ghosh, Partha S.; Monaghan, Kristin G.; Edassery, Seby L.; Ferle, Pia E.; Silverstein, Sarah; Chao, Katherine R.; Snyder, Molly; Ellingwood, Sara; Bharucha-Goebel, Diana; Iannaccone, Susan T.; Dal Peraro, Matteo; Foley, A. Reghan; Savas, Jeffrey N.; Bolduc, Veronique; Fasshauer, Dirk; Bonnemann, Carsten G.; Schwake, Michael

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (vol 11, 2539, 2020)

NATURE COMMUNICATIONS

IF15.7

2021-02-022

OAAI

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

NEUROLOGY-GENETICS

IF3.7

2021-02-0121

OAAI

Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan, Michel C.; Mowat, David R.; Oates, Emily C.; Farrar, Michelle A.; Sampaio, Hugo; Ma, Alan; Neas, Katherine; Wang, Min-Xia; Charlton, Amanda; Chan, Charles; Kenwright, Diane N.; Graf, Nicole; Arbuckle, Susan; Clarke, Nigel F.; MacArthur, Daniel G.; Jones, Kristi J.; Lek, Monkol; Cooper, Sandra T.

The effect of LRRK2 loss-of-function variants in humans (vol 26, pg 869, 2020)

LRRK2功能缺失变异体在人类中的作用 (第26卷，869页，2020)

NATURE MEDICINE

IF50

2021-01-220

OAAI

Whiffin, Nicola; Armean, Irina M.; Kleinman, Aaron; Marshall, Jamie L.; Minikel, Eric V.; Goodrich, Julia K.; Quaife, Nicholas M.; Cole, Joanne B.; Wang, Qingbo; Karczewski, Konrad J.; Cummings, Beryl B.; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A. S.; Merchant, Kalpana M.; Armean, Irina M.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gauthier, Laura D.; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Laricchia, Kristen M.; Llanwarne, Christopher; Munshi, Ruchi; Neale, Benjamin M.; Novod, Sam; O'Donnell-Luria, Anne H.; Petrillo, Nikelle; Poterba, Timothy; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Samocha, Kaitlin E.; Schleicher, Molly; Seed, Cotton; Solomonson, Matthew; Soto, Jose; Tiao, Grace; Tibbetts, Kathleen; Tolonen, Charlotte; Vittal, Christopher; Wade, Gordon; Wang, Arcturus; Watts, Nicholas A.; Weisburd, Ben; Aguilar-Salinas, Carlos A.; Aguilar-Salinas, Carlos A.; Ahmad, Tariq; Albert, Christine M.; Ardissino, Diego; Atzmon, Gil; Barnard, John; Beaugerie, Laurent; Benjamin, Emelia J.; Boehnke, Michael; Bonnycastle, Lori L.; Bottinger, Erwin P.; Bowden, Donald W.; Bown, Matthew J.; Chambers, John C.; Chan, Juliana C.; Chasman, Daniel; Cho, Judy; Chung, Mina K.; Cohen, Bruce; Correa, Adolfo; Dabelea, Dana; Darbar, Dawood; Duggirala, Ravindranath; Dupuis, Josee; Ellinor, Patrick T.; Elosua, Roberto; Erdmann, Jeanette; Farkkila, Martti; Florez, Jose; Franke, Andre; Getz, Gad; Glaser, Benjamin; Glatt, Stephen J.; Goldstein, David; Gonzalez, Clicerio; Groop, Leif; Haiman, Christopher; Hanis, Craig; Harms, Matthew; Hiltunen, Mikko; Holi, Matti M.; Hultman, Christina M.; Kallela, Mikko; Kaprio, Jaakko; Kathiresan, Sekar; Kim, Bong-Jo; Kim, Young Jin; Kirov, George; Kooner, Jaspal; Koskinen, Seppo; Krumholz, Harlan M.; Kugathasan, Subra; Kwak, Soo Heon; Laakso, Markku; Lehtimaki, Terho; Loos, Ruth J. F.; Lubitz, Steven A.; Ma, Ronald C. W.; MacArthur, Daniel G.; Marrugat, Jaume; Mattila, Kari M.; McCarroll, Steven; McCarthy, Mark I.; McGovern, Dermot; McPherson, Ruth; Meigs, James B.; Melander, Olle; Metspalu, Andres; Nilsson, Peter M.; O'Donovan, Michael C.; Ongur, Dost; Orozco, Lorena; Owen, Michael J.; Palmer, Colin N. A.; Palotie, Aarno; Park, Kyong Soo; Pato, Carlos; Pulver, Ann E.; Rahman, Nazneen; Remes, Anne M.; Riou, John D.; Ripatti, Samuli; Roden, Dan M.; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J.; Scharf, Jeremiah; Schunkert, Heribert; Shoemaker, Moore B.; Sklar, Pamela; Soininen, Hilkka; Sokol, Harry; Spector, Tim; Sullivan, Patrick F.; Suvisaari, Jaana; Tai, E. Shyong; Teo, Yik Ying; Tiinamaija, Tuomi; Tsuang, Ming; Turner, Dan; Tusie-Luna, Teresa; Vartiainen, Erkki; Vawter, Marquis P.; Ware, James S.; Watkins, Hugh; Weersma, Rinse K.; Wessman, Maija; Wilson, James G.; Xavier, Ramnik J.; Ware, James S.; Havulinna, Aki S.; Iliadou, Bozenna; Lee, Jung-Jin; Nadkarni, Girish N.; Whiteman, Cole; Agee, Michelle; Agee, Michelle; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A.; Hicks, Barry; Hinds, David A.; Huber, Karen E.; Jewett, Ethan M.; Jiang, Yunxuan; Lin, Keng-Han; Litterman, Nadia K.; McIntyre, Matthew H.; McManus, Kimberly F.; Mountain, Joanna L.; Noblin, Elizabeth S.; Northover, Carrie A. M.; Pitts, Steven J.; Poznik, G. David; Sathirapongsasuti, J. Fah; Shelton, Janie F.; Shringarpure, Suyash; Tian, Chao; Tung, Joyce Y.; Vacic, Vladimir; Wang, Xin; Wilson, Catherine H.; Daly, Mark; Esko, Tonu; Hultman, Christina; Loos, Ruth J. F.; Milani, Lili; Palotie, Aarno; Pato, Carlos; Pato, Michele; Saleheen, Danish; Sullivan, Patrick F.; Alfoldi, Jessica; Cannon, Paul; MacArthur, Daniel G.

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2020-08-2911

OAAI

The effect of LRRK2 loss-of-function variants in humans

LRRK2功能缺失变异体对人类的影响

NATURE MEDICINE

IF50

2020-05-2783

OAAI

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

NATURE COMMUNICATIONS

IF15.7

2020-05-2790

OAAI

Transcript expression-aware annotation improves rare variant interpretation

Nature

IF48.5

2020-05-270

OAAI

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

HUMAN MUTATION

IF3.7

2019-12-0330

OAAI

Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Topf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle, Helen; Witting, Nanna; Vissing, John; Claeys, Kristl G.; Urankar, Kathryn; Beleza-Meireles, Ana; Baptista, Julia; Ellard, Sian; Savarese, Marco; Johari, Mridul; Vihola, Anna; Udd, Bjarne; Majumdar, Anirban; Straub, Volker; Bonnemann, Carsten G.; MacArthur, Daniel G.; Davis, Mark R.; Cooper, Sandra T.

Beryl B. Cummings

个人简介

教育背景

工作经历

荣誉奖项

研究方向