Search Results - "Abhyankar, Avinash"

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities

Felice, Vanessa^Aff3, Abhyankar, Avinash^Aff3, Jobanputra, Vaidehi^{Aff3, Aff4}

Levy, Brynn^Aff2, Walker, John M.^Aff1

Mitochondrial and chromosomal genomics in type 2 diabetes [Elektronisk resurs] / Avinash Abhyankar

Abhyankar, Avinash, 1972-

eBook , 2009

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

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

application/pdf

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Padhi, Evin M, Hayeck, Tristan J, Mannion, Brandon, Chatterjee, Sumantra, Byrska-Bishop, Marta, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Cheng, Zhang, Hunter, Riana D, Akiyama, Jennifer, Fries, Lauren E, Ng, Jeffrey, Stong, Nick, Allen, Andrew S, Dickel, Diane E, Bernier, Raphael A, Gorkin, David U, Pennacchio, Len A, Zody, Michael C, Turner, Tychele N

Mitochondrial and chromosomal genomics in type 2 diabetes / Avinash Abhyankar

Abhyankar, Avinash, 1972-

Book , 2009

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

Abul-Husn, Noura S., Marathe, Priya N., Kelly, Nicole R., Bonini, Katherine E., Sebastin, Monisha, Odgis, Jacqueline A., Abhyankar, Avinash, Brown, Kaitlyn, Di Biase, Miranda, Gallagher, Katie M., Guha, Saurav, Ioele, Nicolette, Okur, Volkan, Ramos, Michelle A., Rodriguez, Jessica E., Rehman, Atteeq U., Thomas-Wilson, Amanda, Edelmann, Lisa, Zinberg, Randi E., Diaz, George A., Greally, John M., Jobanputra, Vaidehi, Suckiel, Sabrina A., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E., Gelb, Bruce D.

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

Marasa, Maddalena, Ahram, Dina F., Rehman, Atteeq U., Mitrotti, Adele, Abhyankar, Avinash, Jain, Namrata G., Weng, Patricia L., Piva, Stacy E., Fernandez, Hilda E., Uy, Natalie S., Chatterjee, Debanjana, Kil, Byum H., Nestor, Jordan G., Felice, Vanessa, Robinson, Dino, Whyte, Dilys, Gharavi, Ali G., Appel, Gerald B., Radhakrishnan, Jai, Santoriello, Dominick, Bomback, Andrew, Lin, Fangming, D’Agati, Vivette D., Jobanputra, Vaidehi, Sanna-Cherchi, Simone

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

Kessler, Michael D, Loesch, Douglas P, Perry, James A, Heard-Costa, Nancy L, Taliun, Daniel, Cade, Brian E, Wang, Heming, Daya, Michelle, Ziniti, John, Datta, Soma, Celedón, Juan C, Soto-Quiros, Manuel E, Avila, Lydiana, Weiss, Scott T, Barnes, Kathleen, Redline, Susan S, Vasan, Ramachandran S, Johnson, Andrew D, Mathias, Rasika A, Hernandez, Ryan, Wilson, James G, Nickerson, Deborah A, Abecasis, Goncalo, Browning, Sharon R, Zöllner, Sebastian, O’Connell, Jeffrey R, Mitchell, Braxton D, Lung, and Blood Institute Trans-Omics for Precision Medicine Consortium National Heart, Group, TOPMed Population Genetics Working, O’Connor, Timothy D, Aalbers, Sanne, Abdalla, Moustafa, Abdul-Rahman, Omar, Abecasis, Gonçalo, Abhyankar, Avinash, Adrianto, Indra, Aguet, Francois, Akers, Rachel, Al-Tobasei, Rafet, Albert, Christine, Aldred, Micheala, Almasy, Laura, Almeida, Marcio, Alonso, Alvaro, Ament, Seth, Ampleford, Elizabeth, An, Ping, Anderson, Christopher D, Andersson, Charlotte, Anugu, Pramod, Appelbaum, Elizabeth, Ardlie, Kristin, Arking, Dan, Armasu, Sebastian M, Arnett, Donna K, Arruda, Heather, Arvanitis, Marios, Ashley-Koch, Allison, Ashrani, Aneel, Aslibekyan, Stella, Assimes, Tim, Atkinson, Elizabeth, Auer, Paul, Austin, Thomas R, Avery, Christy, Avila-Pacheco, Julian, Avillach, Paul, Aviv, Abraham, Avramopoulos, Dimitrios, Ballantyne, Christie, Balte, Pallavi, Bamshad, Michael, Bancks, Mike, Barnard, John, Barr, R Graham, Barron-Casella, Emily, Bartz, Traci, Barwick, Lucas, Basu, Saonli, Battle, Alexis, Baumann, Michael, Beame, David, Beaty, Terri, Beck, Gerald, Becker, Lewis, Becker, Diane, Beer, Rebecca, Begum, Ferdouse, Beiser, Alexa, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Berk-Rauch, Hanna, Besich, Zachary M, Bezerra, Marcos, Bhatt, Surya, Bi, Wenjian, Bick, Alexander, Bielak, Larry

application/pdf

Increased renal arterial resistance predicts the course of renal function in type 2 diabetes with microalbuminuria

Nosadini, R, Velussi, M, Brocco, E, Abaterusso, C, Carraro, A, Piarulli, F, Morgia, G, Satta, A, Faedda, R, Abhyankar, Avinash, Luthman, Holger, Tonolo, G

Lund University, Faculty of Medicine, Department of Clinical Sciences, Malmö, Genetics, Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Malmö, Genetik, Originator

Altered transcapillary escape of albumin and microalbuminuria reflects two different pathogenetic mechanisms

Nosadini, R, Velussi, M, Brocco, E, Abaterusso, C, Piarulli, F, Morgia, G, Satta, A, Faedda, R, Abhyankar, Avinash, Luthman, Holger, Tonolo, G

Lund University, Faculty of Medicine, Department of Clinical Sciences, Malmö, Genetics, Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Malmö, Genetik, Originator

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke JFA, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, ITALSGEN Consortium, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Genomic Translation for ALS Care (GTAC) Consortium, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B, ALS Sequencing Consortium, Gitler, Aaron D, Harris, Tim, Myers, Richard M, NYGC ALS Consortium, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Answer ALS Foundation, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, SLAGEN Consortium, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, French ALS Consortium, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W

application/pdf

Embryonic lethal genetic variants and chromosomally normal pregnancy loss

Kline, Jennie, Vardarajan, Badri, Abhyankar, Avinash, Kytömaa, Sonja, Levin, Bruce, Sobreira, Nara, Tang, Andrew, Thomas-Wilson, Amanda, Zhang, Ruiwei, Jobanputra, Vaidehi

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies

Jobanputra, Vaidehi, Andrews, Peter, Felice, Vanessa, Abhyankar, Avinash, Kozon, Lukasz, Robinson, Dino, London, Ferrah, Hakker, Inessa, Wrzeszczynski, Kazimierz, Ronemus, Michael

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

Amendola, Laura M., Muenzen, Kathleen, Biesecker, Leslie G., Bowling, Kevin M., Cooper, Greg M., Dorschner, Michael O., Driscoll, Catherine, Foreman, Ann Katherine M., Golden-Grant, Katie, Greally, John M., Hindorff, Lucia, Kanavy, Dona, Jobanputra, Vaidehi, Johnston, Jennifer J., Kenny, Eimear E., McNulty, Shannon, Murali, Priyanka, Ou, Jeffrey, Powell, Bradford C., Rehm, Heidi L., Rolf, Bradley, Roman, Tamara S., Van Ziffle, Jessica, Guha, Saurav, Abhyankar, Avinash, Crosslin, David, Venner, Eric, Yuan, Bo, Zouk, Hana, Jarvik, Gail P.

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

Wang, Anderson T, Kim, Taeho, Wagner, John E, Conti, Brooke A, Lach, Francis P, Huang, Athena L, Molina, Henrik, Sanborn, Erica M, Zierhut, Heather, Cornes, Belinda K, Abhyankar, Avinash, Sougnez, Carrie, Gabriel, Stacey B, Auerbach, Arleen D, Kowalczykowski, Stephen C, Smogorzewska, Agata

application/pdf

P635: Validating fetal RNA sequencing to improve classification of splicing variants in prenatal diagnosis*

Han, Ted ¹, Rehman, Atteeq ¹, Krithivasan, Priya ¹, Shea, Patrick ¹, Lam, Alicia ¹, Ficurilli, Michael ¹, Hegedus, Endre ¹, Cadet, Junior ¹, Felice, Vanessa ¹, Giordano, Jessica ², Abhyankar, Avinash ¹, Wapner, Ronald ², Jobanputra, Vaidehi ¹

P135: Integrating germline analysis with tumor sequencing: Advancing cancer genomics

Okur, Volkan ¹, Melas, Marilena ¹, Elder, Bruce ¹, Srinivasa, Sowmya Thirumalai ¹, Guha, Saurav ¹, Primiano, Michelle ², Wilson, Ashley ¹, Kandasamy, Shree Lekha ¹, Abhyankar, Avinash ¹, Sternberg, Cora ², Guevara, Daniela ², Jobanputra, Vaidehi ¹

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer

Wrzeszczynski, Kazimierz O., Felice, Vanessa, Abhyankar, Avinash, Kozon, Lukasz, Geiger, Heather, Manaa, Dina, London, Ferrah, Robinson, Dino, Fang, Xiaolan, Lin, David, Lamendola-Essel, Michelle F., Khaira, Depinder, Dikoglu, Esra, Emde, Anne-Katrin, Robine, Nicolas, Shah, Minita, Arora, Kanika, Basturk, Olca, Bhanot, Umesh, Kentsis, Alex, Mansukhani, Mahesh M., Bhagat, Govind, Jobanputra, Vaidehi

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

Odgis, Jacqueline A., Gallagher, Katie M., Suckiel, Sabrina A., Donohue, Katherine E., Ramos, Michelle A.^{Aff3, Aff4}, Kelly, Nicole R., Bertier, Gabrielle, Blackburn, Christina, Brown, Kaitlyn, Fielding, Lena, Lopez, Jessenia, Aguiniga, Karla Lopez, Maria, Estefany, Rodriguez, Jessica E., Sebastin, Monisha, Teitelman, Nehama, Watnick, Dana, Yelton, Nicole M., Abhyankar, Avinash, Abul-Husn, Noura S.^{Aff1, Aff7, Aff8}, Baum, Aaron, Bauman, Laurie J., Beal, Jules C., Bloom, Toby, Cunningham-Rundles, Charlotte^{Aff8, Aff11}, Diaz, George A.^{Aff7, Aff11}, Dolan, Siobhan, Ferket, Bart S., Jobanputra, Vaidehi^{Aff5, Aff13}, Kovatch, Patricia^{Aff7, Aff14}, McDonald, Thomas V., McGoldrick, Patricia E.^{Aff16, Aff17}, Rhodes, Rosamond, Rinke, Michael L., Robinson, Mimsie, Rubinstein, Arye, Shulman, Lisa H., Stolte, Christian, Wolf, Steven M.^{Aff16, Aff17}, Yozawitz, Elissa^{Aff2, Aff21}, Zinberg, Randi E.^{Aff7, Aff22}, Greally, John M., Gelb, Bruce D.^{Aff7, Aff11, Aff23}, Horowitz, Carol R.^{Aff3, Aff4}, Wasserstein, Melissa P., Kenny, Eimear E.^{Aff1, Aff7, Aff8}

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

Abhyankar, Avinash, Park, Hee-Bok, Tonolo, Giancarlo, Luthman, Holger

Lund University, Faculty of Medicine, Department of Clinical Sciences, Malmö, Genetics, Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Malmö, Genetik, Originator, Lund University, Faculty of Medicine, Department of Clinical Sciences, Malmö, Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Malmö, Originator

electronic