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Diverse ancestral representation improves genetic intolerance metrics Han, Alexander L.; Sands, Chloe F.; Matelska, Dorota; Butts, Jessica C.; Ravanmehr, Vida; Hu, Fengyuan; Gonzalez, Esmeralda Villavicencio; Katsanis, Nicholas; Bustamante, Carlos D.; Wang, Quanli; Vitsios, Dimitrios Share Save
Polygenic risk score portability for common diseases across genetically diverse populations 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. Share Save
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants 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 Share Save
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease 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. Share Save
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research 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. Share Save
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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss Ullah, Farid; Rauf, Waqar; Khan, Kamal; Khan, Sheraz; Bell, Katrina M.; de Oliveira, Vanessa Cristina; Tariq, Muhammad; Bakhshalizadeh, Shabnam; Touraine, Philippe; Katsanis, Nicholas; Sinclair, Andrew; He, Sijie; Tucker, Elena J.; Baig, Shahid M.; Davis, Erica E. Share Save
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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder 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 Share Save
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 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 Share Save
Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae Chen, Chuyi; Gu, Yuyang; Philippe, Julien; Zhang, Peiran; Bachman, Hunter; Zhang, Jinxin; Mai, John; Rufo, Joseph; Rawls, John F.; Davis, Erica E.; Katsanis, Nicholas; Huang, Tony Jun Share Save
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia Monroe, Tanner O.; Garrett, Melanie E.; Kousi, Maria; Rodriguiz, Ramona M.; Moon, Sungjin; Bai, Yushi; Brodar, Steven C.; Soldano, Karen L.; Savage, Jeremiah; Hansen, Thomas F.; Muzny, Donna M.; Gibbs, Richard A.; Barak, Lawrence; Sullivan, Patrick F.; Ashley-Koch, Allison E.; Sawa, Akira; Wetsel, William C.; Werge, Thomas; Katsanis, Nicholas Share Save
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module 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 Share Save
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome 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 Share Save
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy 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 Share Save
Candidate variants inTUBare associated with familial tremor 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. Share Save
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy 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. Share Save
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci 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 Share Save
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies Harel, Tamar; Griffin, John N.; Arbogast, Thomas; Monroe, Tanner O.; Palombo, Flavia; Martinelli, Marcella; Seri, Marco; Pippucci, Tommaso; Elpeleg, Orly; Katsanis, Nicholas Share Save
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