Comparative sequence analysis of the non-protein-coding mitochondrial DNA of inbred rat strains.

by Avinash Abhyankar, Hee-Bok Park, Giancarlo Tonolo, Holger Luthman
Published 2009-12-01

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

by Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis
Published 2013-01-01

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.

by Amandine Crequer, Capucine Picard, Etienne Patin, Aurelia D'Amico, Avinash Abhyankar, Martine Munzer, Marianne Debré, Shen-Ying Zhang, Geneviève de Saint-Basile, Alain Fischer, Laurent Abel, Gérard Orth, Jean-Laurent Casanova, Emmanuelle Jouanguy
Published 2012-01-01

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

by Alexandre Bolze, Avinash Abhyankar, Audrey V Grant, Bhavi Patel, Ruchi Yadav, Minji Byun, Daniel Caillez, Jean-Francois Emile, Marçal Pastor-Anglada, Laurent Abel, Anne Puel, Rajgopal Govindarajan, Loic de Pontual, Jean-Laurent Casanova
Published 2012-01-01

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

by Kimberly A. Rickman, Francis P. Lach, Avinash Abhyankar, Frank X. Donovan, Erica M. Sanborn, Jennifer A. Kennedy, Carrie Sougnez, Stacey B. Gabriel, Olivier Elemento, Settara C. Chandrasekharappa, Detlev Schindler, Arleen D. Auerbach, Agata Smogorzewska
Published 2015-07-01

P780: Improving peripartum health is an unappreciated advantage of prenatal genome sequencing

by Jessica Giordano, Josie Pervola, Ashley Wilson, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Alexandra Tinfow, Stephanie Galloway, Hannah Perrin, Cecilia Esteves, Poppy Brace, Caitlin Baptiste, Sowmya Thirumalai Srinivasa, Shahid Khan, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, Vaidehi Jobanputra, Ronald Wapner
Published 2024-01-01

O44: Genome sequencing as a first-tier prenatal diagnostic test

by Vaidehi Jobanputra, Jessica Giordano, Josie Pervola, Ashley Wilson, Saurav Guha, Amanda Thomas-Wilson, Atteeq Rehman, Volkan Okur, Ted Han, Cecilia Esteves, Alexandra Tinfow, Stephanie Galloway, Sowmya T. Srinivasa, Shahid Khan, Poppy Brace, Caroline Nava, Hannah Perrin, Bruce Elder, Endre Hegedus, Vanessa Felice, Shruti Phadke, Avinash Abhyankar, Ronald Wapner
Published 2024-01-01

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency

by David Requena, Patrick Maffucci, Patrick Maffucci, Patrick Maffucci, Benedetta Bigio, Lei Shang, Avinash Abhyankar, Bertrand Boisson, Bertrand Boisson, Bertrand Boisson, Peter D. Stenson, David N. Cooper, Charlotte Cunningham-Rundles, Charlotte Cunningham-Rundles, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Laurent Abel, Laurent Abel, Laurent Abel, Yuval Itan, Yuval Itan
Published 2018-06-01

P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders

by Volkan Okur, Sowmya Thirumalai Srinivasa, Amanda Halstrom, John Falcone, Atteeq Rehman, Amanda Thomas-Wilson, Saurav Guha, Shruti Phadke, Avinash Abhyankar, Ashley Wilson, Caroline Nava, Shahid Khan, Maurice Hurd, Sarah Stewart, Katerine Claudio, Anne Jablonski, Jyothi Manohar, Sonal Kumar, Michele Yeung, Gregory Dakin, Omar Bellorin-Marin, Cheguevara Afaneh, Lisa Hudgins, Jessica Pena, Esther Wei, Laura Gingras, Alexandra King, Judy Tung, Shuibing Chen, Ryan Smith, Theresa MacDonald, Megan Ritter, Lauro Alonso, Olivier Elemento, Miriam Udler, Marcus Goncalves, Vaidehi Jobanputra
Published 2024-01-01

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

by Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Published 2021-07-01

Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

by Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny
Published 2021-02-01

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

by Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny
Published 2021-01-01

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

by Lafaille, Fabien G, Pessach, Itai M., Zhang, Shen-Ying, Ciancanelli, Michael J., Herman, Melina, Abhyankar, Avinash, Ying, Shui-Wang, Keros, Sotirios, Goldstein, Peter A., Mostoslavsky, Gustavo, Ordovas-Montanes, Jose Manuel, Jouanguy, Emmanuelle, Plancoulaine, Sabine, Tu, Edmund, Elkabetz, Yechiel, Al-Muhsen, Saleh, Tardieu, Marc, Schlaeger, Thorsten M., Daley, George Quentin, Abel, Laurent, Casanova, Jean-Laurent, Studer, Lorenz, Notarangelo, Luigi D.
Published 2013