Shrikant Mane - Publications, H-index & Citations

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Shrikant Mane

Yale University School of Medicine

88H-index

305Paper Count

5.5WCitation Count

Published Papers 127

Publication Date

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

Nature Communications

IF15.7

2025-10-09

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

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

Nature Communications

IF15.7

2025-08-07

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 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

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Genomic alterations in normal breast tissues preceding breast cancer diagnosis

BREAST CANCER RESEARCH

IF5.6

2025-04-22

OAAI

Dai, Jiawei; Rozenblit, Mariya; Li, Xiaoyue; Shan, Naing Lin; Wang, Yueyue; Mane, Shrikant; Marczyk, Michal; Pusztai, Lajos

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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

GENES & DISEASES

IF9.4

2025-03-01

OAAI

Schneider, Ronen; Shril, Shirlee; Buerger, Florian; Deutsch, Konstantin; Yousef, Kirollos; Frank, Camille N.; Onuchic-Whitford, Ana C.; Kitzler, Thomas M.; Mao, Youying; Klaembt, Verena; Zahoor, Muhammad Y.; Lemberg, Katharina; Majmundar, Amar J.; Mansour, Bshara; Saida, Ken; Seltzsam, Steve; Kolvenbach, Caroline M.; Merz, Lea Maria; Mertens, Nils D.; Hermle, Tobias; Mann, Nina; Pantel, Dalia; Halawi, Abdul A.; Bao, Aaron; Schierbaum, Luca; Schneider, Sophia; Salmanullah, Daanya; Ben-Dov, Iddo Z.; Sagiv, Itamar; Eid, Loai A.; Awad, Hazem Subhi H.; Al Saffar, Muna; Soliman, Neveen A.; Nabhan, Marwa M.; Kari, Jameela A.; El Desoky, Sherif; Shalaby, Mohamed A.; Ooda, Said; Fathy, Hanan M.; Mane, Shrikant; Lifton, Richard P.; Somers, Michael J. G.; Hildebrandt, Friedhelm

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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

GENES & DISEASES

IF9.4

2024-09-01

OAAI

Deutsch, Konstantin; Klaembt, Verena; Kitzler, Thomas M.; Jobst-Schwan, Tilman; Schneider, Ronen; Buerger, Florian; Seltzsam, Steve; El Desoky, Sherif; Kari, Jameela A.; Hafeez, Farkhanda; Szczepanska, Maria; Eid, Loai A.; Awad, Hazem S.; Al-Saffar, Muna; Soliman, Neveen A.; Tasic, Velibor; Nicolas-Frank, Camille; Yousef, Kirollos; Schierbaum, Luca M.; Schneider, Sophia; Halawi, Abdul; Elmubarak, Izzeldin; Lemberg, Katharina; Shril, Shirlee; Mane, Shrikant M.; Rodig, Nancy; Hildebrandt, Friedhelm

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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

HUMAN GENOMICS

IF4.3

2024-05-10

OAAI

Sheth, Harsh; Nair, Aadhira; Bhavsar, Riddhi; Kamate, Mahesh; Gowda, Vykuntaraju K.; Bavdekar, Ashish; Kadam, Sandeep; Nampoothiri, Sheela; Panigrahi, Inusha; Kaur, Anupriya; Shah, Siddharth; Mehta, Sanjeev; Jagadeesan, Sujatha; Suresh, Indrani; Kapoor, Seema; Bajaj, Shruti; Devi, Radha Rama; Prajapati, Ashka; Godbole, Koumudi; Patel, Harsh; Luhar, Zulfiqar; Shah, Raju C.; Iyer, Anand; Bijarnia, Sunita; Puri, Ratna; Muranjan, Mamta; Shah, Ami; Magar, Suvarna; Gupta, Neerja; Tayade, Naresh; Gandhi, Ajit; Sowani, Ajit; Kale, Shrutikaa; Jalan, Anil; Solanki, Dhaval; Dalal, Ashwin; Mane, Shrikant; Prabha, C. Ratna; Sheth, Frenny; Joshi, Chaitanya G.; Joshi, Madhvi; Sheth, Jayesh

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LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

ELIFE

IF0

2023-12-13

OAAI

Hwang, Jae Yeon; Chai, Pengxin; Nawaz, Shoaib; Choi, Jungmin; Lopez-Giraldez, Francesc; Hussain, Shabir; Bilguvar, Kaya; Mane, Shrikant; Lifton, Richard P.; Ahmad, Wasim; Zhang, Kai; Chung, Jean-Ju

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Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

NATURE COMMUNICATIONS

IF15.7

2023-11-17

OAAI

Zhao, Shujuan; Mekbib, Kedous Y.; van der Ent, Martijn A.; Allington, Garrett; Prendergast, Andrew; Chau, Jocelyn E.; Smith, Hannah; Shohfi, John; Ocken, Jack; Duran, Daniel; Furey, Charuta G.; Hao, Le Thi; Duy, Phan Q.; Reeves, Benjamin C.; Zhang, Junhui; Nelson-Williams, Carol; Chen, Di; Li, Boyang; Nottoli, Timothy; Bai, Suxia; Rolle, Myron; Zeng, Xue; Dong, Weilai; Fu, Po-Ying; Wang, Yung-Chun; Mane, Shrikant; Piwowarczyk, Paulina; Fehnel, Katie Pricola; See, Alfred Pokmeng; Iskandar, Bermans J.; Aagaard-Kienitz, Beverly; Moyer, Quentin J.; Dennis, Evan; Kiziltug, Emre; Kundishora, Adam J.; DeSpenza Jr, Tyrone; Greenberg, Ana B. W.; Kidanemariam, Seblewengel M.; Hale, Andrew T.; Johnston, James M.; Jackson, Eric M.; Storm, Phillip B.; Lang, Shih-Shan; Butler, William E.; Carter, Bob S.; Chapman, Paul; Stapleton, Christopher J.; Patel, Aman B.; Rodesch, Georges; Smajda, Stanislas; Berenstein, Alejandro; Barak, Tanyeri; Erson-Omay, E. Zeynep; Zhao, Hongyu; Moreno-De-Luca, Andres; Proctor, Mark R.; Smith, Edward R.; Orbach, Darren B.; Alper, Seth L.; Nicoli, Stefania; Boggon, Titus J.; Lifton, Richard P.; Gunel, Murat; King, Philip D.; Jin, Sheng Chih; Kahle, Kristopher T.

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Open-label non-randomized phase IB study to characterize the safety, tolerability and recommended dose of tinostamustin in combination with nivolumab in patients with advanced melanoma (ENIGMA)

ANNALS OF ONCOLOGY

IF65.4

2023-10-01

PREAI

Joerger, M.; Diem, S.; Wyss, N.; Koster, K. L.; Hess, D.; Metaxas, Y.; Flynn, M. C.; Aeppli, S.; El Saadany, T. P.; Mane, S.; Hiendlmeyer, E.; von Moos, R. A. F.; Flatz, L.

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Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure

KIDNEY INTERNATIONAL REPORTS

IF5.7

2023-10-01

OAAI

Ben-Moshe, Yishay; Shlomovitz, Omer; Atias-Varon, Danit; Haskin, Orly; Ben-Shalom, Efrat; Lavsky, Hadas Shasha; Volovelsky, Oded; Mane, Shrikant; Ben-Ruby, Dror; Chowers, Guy; Skorecki, Karl; Borovitz, Yael; Kagan, Maayan; Mor, Nofar; Khavkin, Yulia; Tzvi-Behr, Shimrit; Pollack, Shirley; Toder, Moran Plonsky; Geylis, Michael; Schnapp, Aviad; Becker-Cohen, Rachel; Weissman, Irith; Schreiber, Ruth; Davidovits, Miriam; Frishberg, Yaacov; Magen, Daniella; Barel, Ortal; Vivante, Asaf

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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

NATURE MEDICINE

IF50

2023-03-06

PREAI

Kundishora, Adam J.; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y.; Gainullin, Vladimir; Timberlake, Andrew T.; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q.; Elsamadicy, Aladine A.; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M.; DiLuna, Michael L.; Mane, Shrikant; Tikhonova, Irina R.; Fu, Po-Ying; Castaldi, Christopher; Lopez-Giraldez, Francesc; Knight, James R.; Furey, Charuta G.; Carter, Bob S.; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L.; Gunel, Murat; Millan, Francisca; Lifton, Richard P.; Torene, Rebecca I.; Jin, Sheng Chih; Kahle, Kristopher T.

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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

GENETICS IN MEDICINE

IF6.2

2023-03-01

OAAI

Majmundar, Amar J.; Widmeier, Eugen; Heneghan, John F.; Daga, Ankana; Majmundar, Chen-Han Wilfred; Buerger, Florian; Heneghan, Hannah; Ullah, Ihsan; Amar, Ali; Ottlewski, Isabel; Braun, Daniela A.; Jobst-Schwan, Tilman; Lawson, Jennifer A.; Zahoor, Muhammad Yasir; Rodig, Nancy M.; Tasic, Velibor; Nelson, Caleb P.; Khaliq, Shagufta; Schoenauer, Ria; Halbritter, Jan; Sayer, John A.; Fathy, Hanan M.; Baum, Michelle A.; Shril, Shirlee; Mane, Shrikant; Alper, Seth L.; Hildebrandt, Friedhelm

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Utility of promoter hypermethylation in malignant risk stratification of intraductal papillary mucinous neoplasms

CLINICAL EPIGENETICS

IF4.4

2023-02-20

OAAI

Chhoda, Ankit; Sharma, Anup; Sailo, Bethsebie; Tang, Haoyu; Ruzgar, Nensi; Tan, Wan Ying; Ying, Lee; Khatri, Rishabh; Narayanan, Anand; Mane, Shrikant; De Kumar, Bony; Wood, Laura D.; Iacobuzio-Donahue, Christine; Wolfgang, Christopher L.; Kunstman, John W.; Salem, Ronald R.; Farrell, James J.; Ahuja, Nita

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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

GENETICS IN MEDICINE

IF6.2

2022-11-01

OAAI

Leslie, Joseph S.; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A.; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H.; Craig, Samuel B.; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Lorentzen, Esben; Norris, Dominic P.; Anikster, Yair; Omran, Heymut; Grimes, Daniel T.; Crosby, Andrew H.; Baple, Emma L.

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Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

EUROPEAN UROLOGY OPEN SCIENCE

IF4.5

2022-10-01

OAAI

Wu, Chen-Han Wilfred; Lim, Tze Y.; Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Schierbaum, Luca; Schneider, Sophia; Mann, Nina; Connaughton, Dervla M.; Nakayama, Makiko; van der Ven, Amelie T.; Dai, Rufeng; Kolvenbach, Caroline M.; Kause, Franziska; Ottlewski, Isabel; Stajic, Natasa; Soliman, Neveen A.; Kari, Jameela A.; El Desoky, Sherif; Fathy, Hanan M.; Milosevic, Danko; Turudic, Daniel; Al Saffar, Muna; Awad, Hazem S.; Eid, Loai A.; Ramanathan, Aravind; Senguttuvan, Prabha; Mane, Shrikant M.; Lee, Richard S.; Bauer, Stuart B.; Lu, Weining; Hilger, Alina C.; Tasic, Velibor; Shril, Shirlee; Sanna-Cherchi, Simone; Hildebrandt, Friedhelm

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The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2022-05-16

119

OAAI

Manry, Jeremy; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jeremie; Philippot, Quentin; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martinez, Alba; Yang, Rui; Haljasmagi, Liis; Migaud, Melanie; Sarekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero, Blanca; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesus; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garcon, Pierre; Riviere, Jacques G.; Lagier, Jean-Christophe; Gentile, Stephanie; Rosen, Lindsey B.; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stepanian, Alain; Megarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R.; Franco, Jose Luis; Anaya, Juan-Manuel; Sole-Violan, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M.; Zhang, Yu; Snow, Andrew L.; Holland, Steven M.; Biggs, Catherine M.; Moncada-Velez, Marcela; Arias, Andres Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Anglicheau, Dany; Planas, Anna M.; Haerynck, Filomeen; Duvlis, Sotirija; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A.; El Bakkouri, Jalila; Ramirez-Santana, Carolina; Paul, Stephane; Pan-Hammarstrom, Qiang; Hammarstrom, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N.; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila A.; Dominguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana; van de Beek, Diederik; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yurii; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G.; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kann, Nelli Y.; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angelique; Venet, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C.; Arrestier, Romain; Boudhabhay, Idris; Baris-Feldman, Hagit; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam H.; Kennelly, Sean; Bourkeh, Nollaig M.; Halwan, Rabih; Sharif-Askar, Fatemeh Saheb; Dorgham, Karim; Sallette, Jerome; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raul; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C.; Erikstrup, Christian; Condino-Neto, Antonio; Prando, Carolina; Bondarenko, Anastasiia; Spaan, Andras N.; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P.; Mane, Shrikant; Anderson, Mark S.; Boisson, Bertrand; Beziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Part; Mogensen, Trine H.; Rowen, Lee; Mond, James; Debette, Stephanie; de Lamballerie, Xavier; Burdet, Charles; Bouadma, Lila; Zins, Marie; Soler-Palacin, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martinez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K.; Piemonti, Lorenzo; Rodriguez-Gallego, Carlos; D Notarangelo, Luigi; Su, Helen C.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M.; Tiberghien, Pierre; Zhang, Qian; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurelie

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Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota

COMMUNICATIONS BIOLOGY

IF5.1

2022-05-11

OAAI

Petrone, Mary E.; Rothman, Jessica E.; Breban, Mallery, I; Ott, Isabel M.; Russell, Alexis; Lasek-Nesselquist, Erica; Badr, Hamada; Kelly, Kevin; Omerza, Greg; Renzette, Nicholas; Watkins, Anne E.; Kalinich, Chaney C.; Alpert, Tara; Brito, Anderson F.; Earnest, Rebecca; Tikhonova, Irina R.; Castaldi, Christopher; Kelly, John P.; Shudt, Matthew; Plitnick, Jonathan; Schneider, Erasmus; Murphy, Steven; Neal, Caleb; Laszlo, Eva; Altajar, Ahmad; Pearson, Claire; Muyombwe, Anthony; Downing, Randy; Razeq, Jafar; Niccolai, Linda; Wilson, Madeline S.; Anderson, Margaret L.; Wang, Jianhui; Liu, Chen; Hui, Pei; Mane, Shrikant; Taylor, Bradford P.; Hanage, William P.; Landry, Marie L.; Peaper, David R.; Bilguvar, Kaya; Fauver, Joseph R.; Vogels, Chantal B. F.; Gardner, Lauren M.; Pitzer, Virginia E.; St George, Kirsten; Adams, Mark D.; Grubaugh, Nathan D.

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Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer

BIOMEDICINES

IF3.9

2022-04-26

OAAI

Liu, Yaxuan; Helgadottir, Hafdis T.; Kharaziha, Pedram; Choi, Jungmin; Lopez-Giraldez, Francesc; Mane, Shrikant M.; Hoiom, Veronica; Juhlin, Carl Christofer; Larsson, Catharina; Bajalica-Lagercrantz, Svetlana

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Centers for Mendelian Genomics: A decade of facilitating gene discovery

GENETICS IN MEDICINE

IF6.2

2022-04-01

OAAI

Baxter, Samantha M.; Posey, Jennifer E.; Lake, Nicole J.; Sobreira, Nara; Chong, Jessica X.; Buyske, Steven; Blue, Elizabeth E.; Chadwick, Lisa H.; Coban-Akdemir, Zeynep H.; Doheny, Kimberly F.; Davis, Colleen P.; Lek, Monkol; Wellington, Christopher; Jhangiani, Shalini N.; Gerstein, Mark; Gibbs, Richard A.; Lifton, Richard P.; MacArthur, Daniel G.; Matise, Tara C.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Mane, Shrikant; Nickerson, Deborah A.; Rehm, Heidi L.; O'Donnell-Luria, Anne

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The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia

JOURNAL OF CELL SCIENCE

IF3.6

2022-03-31

OAAI

Smith, Amanda J.; Bustamante-Marin, Ximena M.; Yin, Weining; Sears, Patrick R.; Herring, Laura E.; Dicheva, Nedyalka N.; Lopez-Giraldez, Francesc; Mane, Shrikant; Tarran, Robert; Leigh, Margaret W.; Knowles, Michael R.; Zariwala, Maimoona A.; Ostrowski, Lawrence E.

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Research Directions