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N

Nicholas Katsanis

Institute of Molecular Biology and Biotechnology
H指数:111
被引数:4.5万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Polygenic risk score portability for common diseases across genetically diverse populations

遗传多样性人群中常见疾病的多基因风险评分可移植性

HUMAN GENOMICS
IF4.3
2024-09-021
OAAI
Moreno-Grau, Sonia; Vernekar, Manvi; Lopez-Pineda, Arturo; Mas-Montserrat, Daniel; Barrabes, Miriam; Quinto-Cortes, Consuelo D.; Moatamed, Babak; Lee, Ming Ta Michael; Yu, Zhenning; Numakura, Kensuke; Matsuda, Yuta; Wall, Jeffrey D.; Ioannidis, Alexander G.; Katsanis, Nicholas; Takano, Tomohiro; Bustamante, Carlos D.
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
JCI INSIGHT
IF6.1
2024-08-010
OA
Fellmann, Florence; Saunders, Carol; O'Donohue, Marie-Francoise; Reid, David W.; Mcfadden, Kelsey A.; Montel-Lehry, Nathalie; Yu, Cong; Fang, Mingyan; Zhang, Jianguo; Royer-Bertrand, Beryl; Farinelli, Pietro; Karboul, Narjesse; Willer, Jason R.; Fievet, Lorraine; Bhuiyan, Zahurul Alam; Kleinhenz, Alissa L. W.; Jadeau, Julie; Fulbright, Joy; Rivolta, Carlo; Renella, Raffaele; Katsanis, Nicholas; Beckmann, Jacques S.; V. Nicchitta, Christopher; Da Costa, Lydie; Davis, Erica E.; Gleizes, Pierre-Emmanuel
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

全球生物银行荟萃分析倡议: 推动人类疾病的基因发现

CELL GENOMICS
IF9
2022-10-01126
OAAI
Zhou, Wei; Kanai, Masahiro; Wu, Kuan-Han H.; Rasheed, Humaira; Tsuo, Kristin; Hirbo, Jibril B.; Wang, Ying; Bhattacharya, Arjun; Zhao, Huiling; Namba, Shinichi; Surakka, Ida; Wolford, Brooke N.; Lo Faro, Valeria; Lopera-Maya, Esteban A.; Lall, Kristi; Fave, Marie-Julie; Partanen, Juulia J.; Chapman, Sine ad B.; Karjalainen, Juha; Kurki, Mitja; Maasha, Mutaamba; Brumpton, Ben M.; Chavan, Sameer; Chen, Tzu-Ting; Daya, Michelle; Ding, Yi; Feng, Yen-Chen A.; Guare, Lindsay A.; Gignoux, Christopher R.; Graham, Sarah E.; Hornsby, Whitney E.; Ingold, Nathan; Ismail, Said I.; Johnson, Ruth; Laisk, Triin; Lin, Kuang; Lv, Jun; Millwood, Iona Y.; Moreno-Grau, Sonia; Nam, Kisung; Palta, Priit; Pandit, Anita; Preuss, Michael H.; Saad, Chadi; Setia-Verma, Shefali; Thorsteinsdottir, Unnur; Uzunovic, Jasmina; Verma, Anurag; Zawistowski, Matthew; Zhong, Xue; Afifi, Nahla; Al-Dabhani, Kawthar M.; Al Thani, Asma; Bradford, Yuki; Campbell, Archie; Crooks, Kristy; de Bock, Geertruida H.; Damrauer, Scott M.; Douville, Nicholas J.; Finer, Sarah; Fritsche, Lars G.; Fthenou, Eleni; Gonzalez-Arroyo, Gilberto; Griffiths, Christopher J.; Guo, Yu; Hunt, Karen A.; Ioannidis, Alexander; Jansonius, Nomdo M.; Konuma, Takahiro; Lee, Ming Ta Michael; Lopez-Pineda, Arturo; Matsuda, Yuta; Marioni, Riccardo E.; Moatamed, Babak; Nava-Aguilar, Marco A.; Numakura, Kensuke; Patil, Snehal; Rafaels, Nicholas; Richmond, Anne; Rojas-Munoz, Agustin; Shortt, Jonathan A.; Straub, Peter; Tao, Ran; Vanderwerff, Brett; Vernekar, Manvi; Veturi, Yogasudha; Barnes, Kathleen C.; Boezen, Marike; Chen, Zhengming; Chen, Chia-Yen; Cho, Judy; Smith, George Davey; Finucane, Hilary K.; Franke, Lude; Gamazon, Eric R.; Ganna, Andrea; Gaunt, Tom R.; Ge, Tian; Huang, Hailiang; Huffman, Jennifer; Katsanis, Nicholas; Koskela, Jukka T.; Lajonchere, Clara; Law, Matthew H.; Li, Liming; Lindgren, Cecilia M.; Loos, Ruth J. F.; MacGregor, Stuart; Matsuda, Koichi; Olsen, Catherine M.; Porteous, David J.; Shavit, Jordan A.; Snieder, Harold; Takano, Tomohiro; Trembath, Richard C.; Vonk, Judith M.; Whiteman, David C.; Wicks, Stephen J.; Wijmenga, Cisca; Wright, John; Zheng, Jie; Zhou, Xiang; Awadalla, Philip; Boehnke, Michael; Bustamante, Carlos D.; Cox, Nancy J.; Fatumo, Segun; Geschwind, Daniel H.; Hayward, Caroline; Hveem, Kristian; Kenny, Eimear E.; Lee, Seunggeun; Lin, Yen-Feng; Mbarek, Hamdi; Magi, Reedik; Martin, Hilary C.; Medland, Sarah E.; Okada, Yukinori; Palotie, Aarno, V; Pasaniuc, Bogdan; Rader, Daniel J.; Ritchie, Marylyn D.; Sanna, Serena; Smoller, Jordan W.; Stefansson, Kari; van Heel, David A.; Walters, Robin G.; Zollner, Sebastian; Martin, Alicia R.; Willer, Cristen J.; Daly, Mark J.; Neale, Benjamin M.
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research

来自直接面向消费者的遗传和表型数据的心脏代谢多基因风险评分的验证和自动化学习: 对扩展精确健康研究的意义

HUMAN GENOMICS
IF4.3
2022-09-082
OAAI
Lopez-Pineda, Arturo; Vernekar, Manvi; Moreno-Grau, Sonia; Rojas-Munoz, Agustin; Moatamed, Babak; Lee, Ming Ta Michael; Nava-Aguilar, Marco A.; Gonzalez-Arroyo, Gilberto; Numakura, Kensuke; Matsuda, Yuta; Ioannidis, Alexander; Katsanis, Nicholas; Takano, Tomohiro; Bustamante, Carlos D.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-05-0118
OAAI
Latypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
BRAIN
IF11.7
2021-04-1533
OAAI
Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K.; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C.; Aronica, Eleonora M.; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A. M.; Taniguchi-Ikeda, Mariko; De Giorgio, Roberto
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
NATURE COMMUNICATIONS
IF15.7
2020-11-0247
OAAI
Dougherty, Gerard W.; Mizuno, Katsutoshi; Nothe-Menchen, Tabea; Ikawa, Yayoi; Boldt, Karsten; Ta-Shma, Asaf; Aprea, Isabella; Minegishi, Katsura; Pang, Yuan-Ping; Pennekamp, Petra; Loges, Niki T.; Raidt, Johanna; Hjeij, Rim; Wallmeier, Julia; Mussaffi, Huda; Perles, Zeev; Elpeleg, Orly; Rabert, Franziska; Shiratori, Hidetaka; Letteboer, Stef J.; Horn, Nicola; Young, Samuel; Strunker, Timo; Stumme, Friederike; Werner, Claudius; Olbrich, Heike; Takaoka, Katsuyoshi; Ide, Takahiro; Twan, Wang Kyaw; Biebach, Luisa; Grosse-Onnebrink, Jorg; Klinkenbusch, Judith A.; Praveen, Kavita; Bracht, Diana C.; Hoben, Inga M.; Junger, Katrin; Gutzlaff, Jana; Cindric, Sandra; Aviram, Micha; Kaiser, Thomas; Memari, Yasin; Dzeja, Petras P.; Dworniczak, Bernd; Ueffing, Marius; Roepman, Ronald; Bartscherer, Kerstin; Katsanis, Nicholas; Davis, Erica E.; Amirav, Israel; Hamada, Hiroshi; Omran, Heymut
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

CBY1的丢失导致以Joubert综合征为特征的纤毛病

HUMAN MUTATION
IF3.7
2020-11-0117
OAAI
Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjorn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari-Anne M.; Crowley, Suzanne; Sikiric, Alma; Baroy, Tuva; Kasmann-Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine; Patzke, Sebastian; Phelps, Ian G.; Katsanis, Nicholas; Giles, Rachel; Schmidts, Miriam; Zucknick, Manuela; Lienkamp, Soeren S.; Omran, Heymut; Davis, Erica E.; Doherty, Dan; Stromme, Petter; Frengen, Eirik; Bergmann, Carsten; Misceo, Doriana
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
NATURE GENETICS
IF31.8
2020-10-1227
OAAI
Kousi, Maria; Soylemez, Onuralp; Ozanturk, Aysegul; Mourtzi, Niki; Akle, Sebastian; Jungreis, Irwin; Muller, Jean; Cassa, Christopher A.; Brand, Harrison; Mokry, Jill Anne; Wolf, Maxim Y.; Sadeghpour, Azita; McFadden, Kelsey; Lewis, Richard A.; Talkowski, Michael E.; Dollfus, Helene; Kellis, Manolis; Davis, Erica E.; Sunyaev, Shamil R.; Katsanis, Nicholas
Candidate variants inTUBare associated with familial tremor
PLOS GENETICS
IF3.7
2020-09-214
OAAI
Sailani, M. Reza; Jahanbani, Fereshteh; Abbott, Charles W.; Lee, Hayan; Zia, Amin; Rego, Shannon; Winkelmann, Juliane; Hopfner, Franziska; Khan, Tahir N.; Katsanis, Nicholas; Mueller, Stefanie H.; Berg, Daniela; Lyman, Katherine M.; Mychajliw, Christian; Deuschl, Guenther; Bernstein, Jonathan A.; Kuhlenbaeumer, Gregor; Snyder, Michael P.
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
NATURE COMMUNICATIONS
IF15.7
2020-07-2339
OAAI
Lee, Yu-Ri; Khan, Kamal; Armfield-Uhas, Kim; Srikanth, Sujata; Thompson, Nicola A.; Pardo, Mercedes; Yu, Lu; Norris, Joy W.; Peng, Yunhui; Gripp, Karen W.; Aleck, Kirk A.; Li, Chumei; Spence, Ed; Choi, Tae-Ik; Kwon, Soo Jeong; Park, Hee-Moon; Yu, Daseuli; Heo, Won; Mooney, Marie R.; Baig, Shahid M.; Wentzensen, Ingrid M.; Telegrafi, Aida; McWalter, Kirsty; Moreland, Trevor; Roadhouse, Chelsea; Ramsey, Keri; Lyons, Michael J.; Skinner, Cindy; Alexov, Emil; Katsanis, Nicholas; Stevenson, Roger E.; Choudhary, Jyoti S.; Adams, David J.; Kim, Cheol-Hee; Davis, Erica E.; Schwartz, Charles E.
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci
HUMAN MOLECULAR GENETICS
IF3.2
2020-07-0316
OAAI
Davis, Erica E.; Balasubramanian, Ravikumar; Kupchinsky, Zachary A.; Keefe, David L., Jr.; Plummer, Lacey; Khan, Kamal; Meczekalski, Blazej; Heath, Karen E.; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Mary J.; Margabanthu, Gomathi; Price, Susan; Greening, James; Brauner, Raja; Valenzuela, Irene; Cusco, Ivon; Fernandez-Alvarez, Paula; Wierman, Margaret E.; Li, Taibo; Lage, Kasper; Barroso, Priscila Sales; Chan, Yee-Ming; Crowley, William F.; Katsanis, Nicholas

研究方向

暂未获取到该数据
E
Erica E. Davis
H 指数:60论文数:197被引数:1.1万
P
Philip L. Beales
H 指数:74论文数:195被引数:1.9万
P
Perciliz L. Tan
H 指数:23论文数:36被引数:5,302
C
Christelle Golzio
H 指数:35论文数:70被引数:6,435
J
José L. Badano
H 指数:33论文数:74被引数:8,334
J
Jason R. Willer
H 指数:26论文数:60被引数:3,552
M
Maria Kousi
H 指数:24论文数:63被引数:3,356
F
Friedhelm Hildebrandt
H 指数:108论文数:592被引数:3.7万
E
Edgar A. Otto
H 指数:80论文数:252被引数:2.1万
C
Carmen C. Leitch
H 指数:27论文数:68被引数:7,706