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D

David B. Goldstein

Columbia University
H指数:116
被引数:7.0万

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Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes

作者更正：外显子分析将肾脏畸形与发育障碍联系起来，并揭示了因果基因

Nature Communications
IF15.7
2025-10-090
OAAI
Hila Milo Rasouly; Sarath Babu Krishna Murthy; Natalie Vena; Gundula Povysil; Andrew Beenken; Miguel Verbitsky; Shirlee Shril; Iris Lekkerkerker; Sandy Yang; Atlas Khan; David Fasel; Janewit Wongboonsin; Jeremiah Martino; Juntao Ke; Naama Elefant; Nikita Tomar; Ofek Harnof; Sergey Kisselev; Shiraz Bheda; Sivan Reytan-Miron; Tze Y. Lim; Anna Jamry-Dziurla; Francesca Lugani; Jun Y. Zhang; Maddalena Marasa; Victoria Kolupaeva; Emily E. Groopman; Gina Jin; Iman Ghavami; Kelsey O. Stevens; Arielle C. Coughlin; Byum Hee Kil; Debanjana Chatterjee; Drew Bradbury; Jason Zheng; Karla Mehl; Maria Morban; Rachel Reingold; Stacy Piva; Xueru Mu; Adele Mitrotti; Agnieszka Szmigielska; Aleksandra Gliwińska; Andrea Ranghino; Andrew S. Bomback; Andrzej Badenski; Anna Latos-Bielenska; Valentina Capone; Anna Materna-Kiryluk; Antonio Amoroso; Claudia Izzi; Claudio La Scola; David Jonathan Cohen; Domenico Santoro; Dorota Drozdz; Enrico Fiaccadori; Fangming Lin; Francesco Scolari; Francesco Tondolo; Gaetano La Manna; Gerald B. Appel; Gian Marco Ghiggeri; Gianluigi Zaza; Giovanni Montini; Giuseppe Masnata; Grażyna Krzemien; Isabella Pisani; Jai Radhakrishnan; Katarzyna Zachwieja; Loreto Gesualdo; Luigi Biancone; Davide Meneghesso; Malgorzata Mizerska-Wasiak; Marcin Tkaczyk; Marcin Zaniew; Maria K. Borszewska-Kornacka; Maria Szczepanska; Marijan Saraga; Maya K. Rao; Monica Bodria; Monika Miklaszewska; Natalie S. Uy; Olga Baraldi; Omar Bjanid; Pasquale Esposito; Pasquale Zamboli; Pierluigi Marzuillo; Pietro A. Canetta; Przemyslaw Sikora; Rik Westland; Russell J. Crew; Shumyle Alam; Stefano Guarino; Susanna Negrisolo; Thomas Hays; Shrikant Mane; Valeria Grandinetti; Velibor Tasic; Vladimir J. Lozanovski; Yasar Caliskan; David Goldstein; Richard P. Lifton; Iuliana Ionita-Laza; Krzysztof Kiryluk; Albertien M. van Eerde; Friedhelm Hildebrandt; Simone Sanna-Cherchi; Ali G. Gharavi
Exome analysis links kidney malformations to developmental disorders and reveals causal genes

外显子分析将肾脏畸形与发育障碍联系起来，并揭示了致病基因

Nature Communications
IF15.7
2025-08-070
OA
Hila Milo Rasouly; Sarath Babu Krishna Murthy; Natalie Vena; Gundula Povysil; Andrew Beenken; Miguel Verbitsky; Shirlee Shril; Iris Lekkerkerker; Sandy Yang; Atlas Khan; David Fasel; Janewit Wongboonsin; Jeremiah Martino; Juntao Ke; Naama Elefant; Nikita Tomar; Ofek Harnof; Sergey Kisselev; Shiraz Bheda; Sivan Reytan-Miron; Tze Y. Lim; Anna Jamry-Dziurla; Francesca Lugani; Jun Y. Zhang; Maddalena Marasa; Victoria Kolupaeva; Emily E. Groopman; Gina Jin; Iman Ghavami; Kelsey O. Stevens; Arielle C. Coughlin; Byum Hee Kil; Debanjana Chatterjee; Drew Bradbury; Jason Zheng; Karla Mehl; Maria Morban; Rachel Reingold; Stacy Piva; Xueru Mu; Adele Mittrori; Agnieszka Szmigielska; Aleksandra Gliwińska; Andrea Ranghino; Andrew S. Bomback; Andrzej Badenski; Anna Latos-Bielenska; Valentina Capone; Anna Materna-Kiryluk; Antonio Amoroso; Claudia Izzi; Claudio La Scola; David Jonathan Cohen; Domenico Santoro; Dorota Drozdz; Enrico Fiaccadori; Fangming Lin; Francesco Scolari; Francesco Tondolo; Gaetano La Manna; Gerald B. Appel; Gian Marco Ghiggeri; Gianluigi Zaza; Giovanni Montini; Giuseppe Masnata; Grażyna Krzemien; Isabella Pisani; Jai Radhakrishnan; Katarzyna Zachwieja; Loreto Gesualdo; Luigi Biancone; Davide Meneghesso; Malgorzata Mizerska-Wasiak; Marcin Tkaczyk; Marcin Zaniew; Maria K. Borszewska-Kornacka; Maria Szczepanska; Marijan Saraga; Maya K. Rao; Monica Bodria; Monika Miklaszewska; Natalie S. Uy; Olga Baraldi; Omar Bjanid; Pasquale Esposito; Pasquale Zamboli; Pierluigi Marzuillo; Pietro A. Canetta; Przemyslaw Sikora; Rik Westland; Russell J. Crew; Shumyle Alam; Stefano Guarino; Susanna Negrisolo; Thomas Hays; Shrikant Mane; Valeria Grandinetti; Velibor Tasic; Vladimir J. Lozanovski; Yasar Caliskan; David Goldstein; Richard P. Lifton; Iuliana Ionita-Laza; Krzysztof Kiryluk; Albertien M. van Eerde; Friedhelm Hildebrandt; Simone Sanna-Cherchi; Ali G. Gharavi
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
SCIENTIFIC REPORTS
IF3.9
2023-12-062
OAAI
Kong, Xiao-Fei; Bogyo, Kelsie; Kapoor, Sheena; Shea, Patrick R.; Groopman, Emily E.; Thomas-Wilson, Amanda; Cocchi, Enrico; Milo Rasouly, Hila; Zheng, Beishi; Sun, Siming; Zhang, Junying; Martinez, Mercedes; Vittorio, Jennifer M.; Dove, Lorna M.; Marasa, Maddalena; Wang, Timothy C.; Verna, Elizabeth C.; Worman, Howard J.; Gharavi, Ali G.; Goldstein, David B.; Wattacheril, Julia
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease
NATURE COMMUNICATIONS
IF15.7
2023-11-3017
OAAI
Gupta, Yask; Friedman, David J.; McNulty, Michelle T.; Khan, Atlas; Lane, Brandon; Wang, Chen; Ke, Juntao; Jin, Gina; Wooden, Benjamin; Knob, Andrea L.; Lim, Tze Y.; Appel, Gerald B.; Huggins, Kinsie; Liu, Lili; Mitrotti, Adele; Stangl, Megan C.; Bomback, Andrew; Westland, Rik; Bodria, Monica; Marasa, Maddalena; Shang, Ning; Cohen, David J.; Crew, Russell J.; Morello, William; Canetta, Pietro; Radhakrishnan, Jai; Martino, Jeremiah; Liu, Qingxue; Chung, Wendy K.; Espinoza, Angelica; Luo, Yuan; Wei, Wei-Qi; Feng, Qiping; Weng, Chunhua; Fang, Yilu; Kullo, Iftikhar J.; Naderian, Mohammadreza; Limdi, Nita; Irvin, Marguerite R.; Tiwari, Hemant; Mohan, Sumit; Rao, Maya; Dube, Geoffrey K.; Chaudhary, Ninad S.; Gutierrez, Orlando M.; Judd, Suzanne E.; Cushman, Mary; Lange, Leslie A.; Lange, Ethan M.; Bivona, Daniel L.; Verbitsky, Miguel; Winkler, Cheryl A.; Kopp, Jeffrey B.; Santoriello, Dominick; Batal, Ibrahim; Pinheiro, Sergio Veloso Brant; Oliveira, Eduardo Araujo; Simoes e Silva, Ana Cristina; Pisani, Isabella; Fiaccadori, Enrico; Lin, Fangming; Gesualdo, Loreto; Amoroso, Antonio; Ghiggeri, Gian Marco; D'Agati, Vivette D.; Magistroni, Riccardo; Kenny, Eimear E.; Loos, Ruth J. F.; Montini, Giovanni; Hildebrandt, Friedhelm; Paul, Dirk S.; Petrovski, Slave; Goldstein, David B.; Kretzler, Matthias; Gbadegesin, Rasheed; Gharavi, Ali G.; Kiryluk, Krzysztof; Sampson, Matthew G.; Pollak, Martin R.; Sanna-Cherchi, Simone
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

慢性肾脏疾病的遗传学: 肾脏疾病的结论: 改善全球结果 (KDIGO) 争议会议

KIDNEY INTERNATIONAL
IF12.6
2022-06-0147
OA
Koettgen, Anna; Cornec-Le Gall, Emilie; Halbritter, Jan; Kiryluk, Krzysztof; Mallett, Andrew J.; Parekh, Rulan S.; Rasouly, Hila Milo; Sampson, Matthew G.; Tin, Adrienne; Antignac, Corinne; Ars, Elisabet; Bergmann, Carsten; Bleyer, Anthony J.; Bockenhauer, Detlef; Devuyst, Olivier; Florez, Jose C.; Fowler, Kevin J.; Franceschini, Nora; Fukagawa, Masafumi; Gale, Daniel P.; Gbadegesin, Rasheed A.; Goldstein, David B.; Grams, Morgan E.; Greka, Anna; Gross, Oliver; Guay-Woodford, Lisa M.; Harris, Peter C.; Hoefele, Julia; Hung, Adriana M.; Knoers, Nine V. A. M.; Kopp, Jeffrey B.; Kretzler, Matthias; Lanktree, Matthew B.; Lipska-Zietkiewicz, Beata S.; Nicholls, Kathleen; Nozu, Kandai; Ojo, Akinlolu; Parsa, Afshin; Pattaro, Cristian; Pei, York; Pollak, Martin R.; Rhee, Eugene P.; Sanna-Cherchi, Simone; Savige, Judy; Sayer, John A.; Scolari, Francesco; Sedor, John R.; Sim, Xueling; Somlo, Stefan; Susztak, Katalin; Tayo, Bamidele O.; Torra, Roser; van Eerde, Albertien M.; Weinstock, Andre; Winkler, Cheryl A.; Wuttke, Matthias; Zhang, Hong; King, Jennifer M.; Cheung, Michael; Jadoul, Michel; Winkelmayer, Wolfgang C.; Gharavi, Ali G.
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
MOLECULAR PSYCHIATRY
IF10.1
2021-11-1912
PREAI
Alkelai, Anna; Greenbaum, Lior; Docherty, Anna R.; Shabalin, Andrey A.; Povysil, Gundula; Malakar, Ayan; Hughes, Daniel; Delaney, Shannon L.; Peabody, Emma P.; McNamara, James; Gelfman, Sahar; Baugh, Evan H.; Zoghbi, Anthony W.; Harms, Matthew B.; Hwang, Hann-Shyan; Grossman-Jonish, Anat; Aggarwal, Vimla; Heinzen, Erin L.; Jobanputra, Vaidehi; Pulver, Ann E.; Lerer, Bernard; Goldstein, David B.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
GENETICS IN MEDICINE
IF6.2
2021-10-018
OAAI
May, Halie J.; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S.; Chassevent, Anna; Baptista, Julia; Baugh, Evan H.; Bier, Louise; Bottani, Armand; Carminho A. Rodrigues, Maria Teresa; Conlon, Charles; Fluss, Joel; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B.; Roche, Katherine W.; Anyane-Yeboa, Kwame

研究方向

暂未获取到该数据
K
Kevin V. Shianna
H 指数:56论文数:176被引数:2.1万
S
Slavé Petrovski
H 指数:66论文数:242被引数:2.4万
F
Fellay, Jacques
H 指数:0论文数:2被引数:36
J
John G. McHutchison
H 指数:125论文数:1,090被引数:7.7万
A
Anna C. Need
H 指数:54论文数:154被引数:1.5万
E
Erin L. Heinzen
H 指数:53论文数:146被引数:1.6万
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Thomas Urban
H 指数:40论文数:275被引数:1.0万
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Andrew S. Allen
H 指数:46论文数:245被引数:9,458
K
Kelly Schoch
H 指数:46论文数:206被引数:6,354
E
Elizabeth T. Cirulli
H 指数:53论文数:173被引数:1.9万