Search Results - Avinash V. Dharmadhikari

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  1. 1
    Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

    Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease by Avinash V. Dharmadhikari, Przemysław Szafrański, Vladimir V. Kalinichenko, Paweł Stankiewicz

    Published 2015
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  2. 2
    Two deletions overlapping a distant <i>FOXF1</i> enhancer unravel the role of lncRNA <i>LINC01081</i> in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

    Two deletions overlapping a distant <i>FOXF1</i> enhancer unravel the role of lncRNA <i>LINC01081</i> in etiology of alveolar capillary dysplasia with misalignment of pulmonary vei... by Przemysław Szafrański, Avinash V. Dharmadhikari, Jennifer Wambach, Chris T. Towe, Frances V. White, R. Mark Grady, Pirooz Eghtesady, F. Sessions Cole, Gail Deutsch, Partha Sen, Paweł Stankiewicz

    Published 2014
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  3. 3
    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder by Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

    Published 2018
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  4. 4
    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder by Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens, Priyatansh Gurha, Katarzyna Kołodziejska, Zhishuo Ou, Piotr Dittwald, Tadeusz Majewski, K. Naga Mohan, Bo Chen, Richard Person, Dick Tibboel, Annelies de Klein, Jason Pinner, Maya Chopra, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Sixto F. Guiang, Virginia A. Hustead, José Jessurun, Russel Hirsch, David P. Witte, Isabelle Maystadt, Neil J. Sebire, Richard Fisher, Claire Langston, Partha Sen, Paweł Stankiewicz

    Published 2012
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  5. 5
    Causal Genetic Variants in Stillbirth

    Causal Genetic Variants in Stillbirth by Kate E. Stanley, Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi, Jun Liao, Avinash V. Dharmadhikari, Anya Revah‐Politi, Michelle Ernst, Natalie Lippa, Halie Holmes, Gundula Povysil, Joseph Hostyk, Corette B. Parker, Robert L. Goldenberg, George R. Saade, Donald J. Dudley, Halit Pınar, Carol J. Hogue, Uma M. Reddy, Robert M. Silver, Vimla S. Aggarwal, Andrew S. Allen, Ronald J. Wapner, David B. Goldstein

    Published 2020
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  6. 6
    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements by Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Shweta U. Dhar, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie Withers, Carlos A. Bacino, Luis Daniel Campos-Acevedo, Mauricio R. Delgado, Debra Freedenberg, Adolfo D. Garnica, Theresa A. Grebe, Dolores Hernández-Almaguer, LaDonna Immken, Seema R. Lalani, Scott D. McLean, Hope Northrup, Fernando Scaglia, Lane Strathearn, Pamela Trapane, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, P. J. Hastings, Paweł Stankiewicz, James R. Lupski, Weimin Bi

    Published 2011
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  7. 7
    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases by Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia Braxton, Patricia A. Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice Smith, Seema R. Lalani, Paweł Stankiewicz, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

    Published 2019
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  8. 8
    Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

    Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats by Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, J. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann Martin, Suneeta Madan‐Khetarpal, Jacqueline M. Hoover, Līvija Medne, Carsten G. Bönnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie Banks, David B. Flannery, Carolyn Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean P. Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer

    Published 2011
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  9. 9
    Use of Exome Sequencing for Infants in Intensive Care Units

    Use of Exome Sequencing for Infants in Intensive Care Units by Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patricia A. Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari Tokita, Teresa Santiago‐Sim, Hongzheng Dai, Theodore Chiang, Hadley Stevens Smith, Mahshid S. Azamian, Laurie Robak, Bret L. Bostwick, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A. Bacino, Neil A. Hanchard, Michael F. Wangler, Daryl A. Scott, Chester Brown, Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani

    Published 2017
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  10. 10
    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies by Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

    Published 2018
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  11. 11
    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain by Partha Sen, Yaping Yang, C. Navarro, Iris A. L. Silva, Przemysław Szafrański, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, Hasnaa R. Mostafa, Harry P. Kozakewich, Debra L. Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda R. Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John K. Petty, Zeina Kiblawi, Craig W. Zuppan, Allyn McConkie‐Rosell, Marie McDonald, Stacey L. Peterson‐Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe Friedlich, Stephen R. Hays, Irene Valenzuela, Ulrike Siebers‐Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane E. Brumbaugh, Kari E. Roberts, Luk Ho-Ming, Ivan F. M. Lo, Stephen T.S. Lam, Romana Gerychová, Marta Ježová, Iveta Valášková, Florence Fellmann, Katayoun Afshar, Éric Giannoni, Vincent Muhlethaler, Jinlong Liang, J. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw‐Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barréa, Christine Galant, Thierry Detaille, Jennifer Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael Baker, Claire Langston, Stephen E. Welty, Paweł Stankiewicz

    Published 2013
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  12. 12
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins by Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir C. Akdemir, Shalini N. Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A. Yatsenko, Jessica Sebastian, Suneeta Madan‐Khetarpal, Urvashi Surti, Rosanna Abellar, David Bateman, Ashley Wilson, Melinda H. Markham, Jill Slamon, Fernando Santos‐Simarro, María Palomares‐Bralo, Julián Nevado, Pablo Lapunzina, Brian Hon‐Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott Anderson, David R. Kelly, Joseph T.C. Shieh, Taryn C. Rosenthal, Kristin Scheible, Laurie A. Steiner, M. Anwar Iqbal, Margaret L. McKinnon, Sara Hamilton, Kamilla Schlade‐Bartusiak, D. W. English, Glenda Hendson, Elizabeth Roeder, Thomas S. DeNapoli, Rebecca O. Littlejohn, Daynna J. Wolff, Carol L. Wagner, Alison Yeung, David Francis, Elizabeth K. Fiorino, Morris Edelman, Joyce E. Fox, Denise A. Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S. Lay, Jennifer Kussmann, Jasneek Chawla, Diane Payton, Gael E. Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil J. Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw‐Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A. Bacino, Claire Langston, James R. Lupski, Partha Sen, Edwina J. Popek, Paweł Stankiewicz

    Published 2016
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