Хайлтын үр дүнгүүд - Saurav Guha

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  1. 1
    Implications for health and disease in the genetic signature of the Ashkenazi Jewish population

    Implications for health and disease in the genetic signature of the Ashkenazi Jewish population -н Saurav Guha, Jeffrey Rosenfeld, Anil K. Malhotra, Annette T. Lee, Peter K. Gregersen, John M. Kane, Itsik Pe’er, Ariel Darvasi, Todd Lencz

    Хэвлэсэн 2012
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    Artigo
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  2. 2
    High rate of disease-related copy number variations in childhood onset schizophrenia

    High rate of disease-related copy number variations in childhood onset schizophrenia -н Kyungja Ahn, N Gotay, Torben Andersen, Afsoon A Anvari, Peter Gochman, Y Lee, Stephan Sanders, Saurav Guha, Ariel Darvasi, Joseph Glessner, Hákon Hákonarson, Todd Lencz, Matthew W. State, Yin Yao Shugart, Judith L. Rapoport

    Хэвлэсэн 2013
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  3. 3
    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease -н Thomas Hays, Rebecca Hernan, Michele Disco, Emily Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U. Rehman, Amanda Thomas‐Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra, Wendy K. Chung

    Хэвлэсэн 2023
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  4. 4
    De novo copy number variants are associated with congenital diaphragmatic hernia

    De novo copy number variants are associated with congenital diaphragmatic hernia -н Lan Yu, Julia Wynn, Lijiang Ma, Saurav Guha, George B. Mychaliska, Timothy M. Crombleholme, Kenneth S. Azarow, Foong‐Yen Lim, Dai H. Chung, Douglas A. Potoka, Brad W. Warner, Brian T. Bucher, Charles A. LeDuc, Katherine Costa, Charles J.H. Stolar, Guðrún Aspelund, Marc S. Arkovitz, Wendy K. Chung

    Хэвлэсэн 2012
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  5. 5
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing -н Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Edwin J. Young, Sarah Barnett, John W. Belmont, Nicole J. Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse A. Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas‐Wilson, Hutton M. Kearney, Heidi L. Rehm

    Хэвлэсэн 2022
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    Revisão
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  6. 6
    Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder

    Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder -н Todd Lencz, Saurav Guha, Chunyu Liu, Jeffrey Rosenfeld, Semanti Mukherjee, Pamela DeRosse, Majnu John, Lijun Cheng, Chunling Zhang, Judith A. Badner, Masashi Ikeda, Nakao Iwata, Sven Cichon, Marcella Rietschel, Markus M. Nöthen, A T A Cheng, Colin A. Hodgkinson, Qiaoping Yuan, John M. Kane, Annette T. Lee, Anne Pisanté, Peter K. Gregersen, Itsik Pe’er, Anil K. Malhotra, David Goldman, Ariel Darvasi

    Хэвлэсэн 2013
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  7. 7
    Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

    Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes -н Vladimir Vacic, Laurie J. Ozelius, Lorraine N. Clark, Anat Bar‐Shira, Mali Gana‐Weisz, Tanya Gurevich, Alexander Gusev, Merav Kedmi, Eimear E. Kenny, X. Liu, Helen Mejia‐Santana, Anat Mirelman, Deborah Raymond, Rachel Saunders‐Pullman, Robert J. Desnick, Gil Atzmon, E. Robert Burns, Harry Ostrer, Hákon Hákonarson, Aviv Bergman, Nir Barzilai, Ariel Darvasi, Inga Peter, Saurav Guha, Todd Lencz, Nir Giladi, K. Marder, I. Pe'er, Susan Bressman, Avi Orr‐Urtreger

    Хэвлэсэн 2014
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  8. 8
    Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

    Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients -н Noura S. Abul‐Husn, Priya N. Marathe, Nicole R. Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie M. Gallagher, Saurav Guha, Nicolette Ioele, Volkan Okur, Michelle A. Ramos, Jessica Rodriguez, Atteeq U. Rehman, Amanda Thomas‐Wilson, Lisa Edelmann, Randi E. Zinberg, George A. Díaz, John M. Greally, Vaidehi Jobanputra, Sabrina A. Suckiel, Carol R. Horowitz, Melissa Wasserstein, Eimear E. Kenny, Bruce D. Gelb

    Хэвлэсэн 2023
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  9. 9
    Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

    Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins -н Shai Carmi, Ken Y. Hui, Ethan Kochav, Xinmin Liu, James R. Xue, Fillan S. Grady, Saurav Guha, Kinnari Upadhyay, Dan Ben-Avraham, Semanti Mukherjee, B.M. Bowen, Tinu Thomas, Joseph Vijai, Marc Cruts, Guy Froyen, Diether Lambrechts, Stéphane Plaisance, Christine Van Broeckhoven, Philip Van Damme, Herwig Van Marck, Nir Barzilai, Ariel Darvasi, Kenneth Offit, Susan Bressman, Laurie J. Ozelius, Inga Peter, Judy H. Cho, Harry Ostrer, Gil Atzmon, Lorraine N. Clark, Todd Lencz, Itsik Pe’er

    Хэвлэсэн 2014
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  10. 10
    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies -н Laura M. Amendola, Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner, Catherine C. Driscoll, Ann Katherine M. Foreman, Katie Golden‐Grant, John M. Greally, Lucia A. Hindorff, Dona Kanavy, Vaidehi Jobanputra, Jennifer J. Johnston, Eimear E. Kenny, Shannon McNulty, Priyanka Murali, Jeffrey Ou, Bradford C. Powell, Heidi L. Rehm, Bradley A. Rolf, Tamara S. Roman, Jessica Van Ziffle, Saurav Guha, Avinash Abhyankar, David R. Crosslin, Eric Venner, Bo Yuan, Hana Zouk, Gail P. Jarvik

    Хэвлэсэн 2020
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  11. 11
    Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT)

    Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT) -н Todd Lencz, Emma Knowles, Gail Davies, Saurav Guha, David C. Liewald, John M. Starr, Srdjan Djurovic, Ingrid Melle, Kjetil Sundet, A. Christoforou, Ivar Reinvang, Semanti Mukherjee, Pamela DeRosse, Astri J. Lundervold, V M Steen, Majnu John, Thomas Espeseth, Katri Räikkönen, Elisabeth Widén, Aarno Palotie, Johan G. Eriksson, Ina Giegling, Bettina Konte, Masashi Ikeda, Panos Roussos, Stella G. Giakoumaki, Katherine E. Burdick, Antony Payton, William Ollier, M.A. Horan, Gary Donohoe, Derek W. Morris, Aiden Corvin, Michael Gill, Neil Pendleton, Nakao Iwata, Ariel Darvasi, Panos Bitsios, Dan Rujescu, Jari Lahti, Stéphanie Le Hellard, Matthew C. Keller, Ole A. Andreassen, Ian J. Deary, David C. Glahn, Anil K. Malhotra

    Хэвлэсэн 2013
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    Revisão
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  12. 12
    Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia

    Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia -н Saurav Guha, Elliott Rees, Ariel Darvasi, Dobril Ivanov, Masashi Ikeda, Sarah E. Bergen, Patrik K. E. Magnusson, Paul Cormican, Derek W. Morris, Michael Gill, Sven Cichon, Jeffrey Rosenfeld, Annette Lee, Peter K. Gregersen, John M. Kane, Anil K. Malhotra, Marcella Rietschel, Markus M. Nöthen, Franziska Degenhardt, Lutz Priebe, René Breuer, Jana Strohmaier, Douglas M. Ruderfer, Jennifer L. Moran, Kimberly D. Chambert, Alan R. Sanders, Jianxin Shi, Kenneth S. Kendler, Brien P. Riley, F. Anthony O’Neill, Dermot Walsh, Dheeraj Malhotra, Aiden Corvin, Shaun Purcell, Pamela Sklar, Nakao Iwata, Christina M. Hultman, Patrick F. Sullivan, Jonathan Sebat, Shane McCarthy, Pablo V. Gejman, Douglas F. Levinson, Michael John Owen, Michael O’Donovan, Todd Lencz, George Kirov

    Хэвлэсэн 2013
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  13. 13
    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel -н Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti

    Хэвлэсэн 2019
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  14. 14
    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption -н Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    Хэвлэсэн 2025
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