Synthesis of carbon nanosheet from barley and its use as non-enzymatic glucose biosensor

por Das, Soma, Saha, Mitali
Publicado 2014

Real-world evidence of glycemic control among patients with type 2 diabetes mellitus in India: the TIGHT study

por Borgharkar, Surendra S, Das, Soma S
Publicado 2019

Best practices sharing: Setting up a professional clinical research unit in India

por Divate, Uma, Das, Soma, Bhosale, Neelambari, Divate, Pathik
Publicado 2014

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

por Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Publicado 2017

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

por Bai, Shaochun, Lozada, Anthony, Jones, Marilyn C., Dietz, Harry C., Dempsey, Melissa, Das, Soma
Publicado 2014

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

por Conboy, Erin, Vairo, Filippo, Waggoner, Darrel, Ober, Carole, Das, Soma, Dhamija, Radhika, Klee, Eric W., Pichurin, Pavel
Publicado 2017

RG203KR Mutations in SARS-CoV-2 Nucleocapsid: Assessing the Impact Using a Virus-Like Particle Model System

por Raheja, Harsha, Das, Soma, Banerjee, Anindita, P., Dikshaya, C., Deepika, Mukhopadhyay, Debanjan, Ramachandra, Subbaraya G., Das, Saumitra
Publicado 2022

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly

por Qashqari, Hebah, Ramani, Arun, Gonorazky, Hernan, Amburgey, Kimberly, Ghahramani Seno, Mohammad M., Brudno, Michael, Naumenko, Sergey, Das, Soma, Dowling, James J.
Publicado 2021

Exome sequencing identifies PD‐L2 as a potential predisposition gene for lymphoma

por Shao, Jianming, Gao, Lei, Leung, Marco L., Gallinger, Bailey, Inglese, Cara, Meyn, M. Stephen, Del Gaudio, Daniela, Das, Soma, Li, Zejuan
Publicado 2022

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

por Xiao, Changrui, Binkley, Elaine M., Rexach, Jessica, Knight-Johnson, Amy, Khemani, Pravin, Fogel, Brent L., Das, Soma, Stone, Edwin M., Gomez, Christopher M.
Publicado 2019

Monoclonal Antibodies against Hepatitis C Genotype 3a Virus Like Particle Inhibit Virus Entry in Cell Culture System

por Das, Soma, Shetty, Rohini K., Kumar, Anuj, Shridharan, Radhika Nagamangalam, Tatineni, Ranjitha, Chi, Giriprakash, Mukherjee, Anirban, Das, Saumitra, Subbarao, Shaila Melkote, Karande, Anjali Anoop
Publicado 2013

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

por Harrison, Steven M., Dolinsky, Jill S., Knight Johnson, Amy E., Pesaran, Tina, Azzariti, Danielle R., Bale, Sherri, Chao, Elizabeth C., Das, Soma, Vincent, Lisa, Rehm, Heidi L.
Publicado 2017

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association...

por Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.
Publicado 2015

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

por Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela
Publicado 2014

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

por Aboud Syriani, Dona, Wong, Darice, Andani, Sameer, De Gusmao, Claudio M., Mao, Yuanming, Sanyoura, May, Glotzer, Giacomo, Lockhart, Paul J., Hassin-Baer, Sharon, Khurana, Vikram, Gomez, Christopher M., Perlman, Susan, Das, Soma, Fogel, Brent L.
Publicado 2020

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

por DeRoin, Lia, Cavalcante de Andrade Silva, Marcela, Petras, Kristin, Arndt, Kelly, Phillips, Nathaniel, Wanjari, Pankhuri, Subramanian, Hari Prasanna, Montes, David, McElherne, James, Theissen, Megan, Briese, Renee, Das, Soma, Godley, Lucy A., Segal, Jeremy, del Gaudio, Daniela, Fitzpatrick, Carrie, Churpek, Jane E.
Publicado 2022

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies

por Saygin, Caner, Roloff, Gregory, Hahn, Christopher N., Chhetri, Rakchha, Gill, Saar, Elmariah, Hany, Talati, Chetasi, Nunley, Emma, Gao, Guimin, Kim, Aelin, Bishop, Michael, Kosuri, Satyajit, Das, Soma, Singhal, Deepak, Venugopal, Parvathy, Homan, Claire C., Brown, Anna, Scott, Hamish S., Hiwase, Devendra, Godley, Lucy A.
Publicado 2022

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma

por Mitchell, Owen D., Gilliam, Katie, del Gaudio, Daniela, McNeely, Kelsey E., Smith, Shaili, Acevedo, Maria, Gaduraju, Meghana, Hodge, Rachel, Ramsland, Aubrianna S. S., Segal, Jeremy, Das, Soma, Hathaway, Feighanne, Bryan, Darren S., Tawde, Sanjukta, Galasinski, Shelly, Wang, Peng, Tjota, Melissa Y., Husain, Aliya N., Armato, Samuel G., Donington, Jessica, Ferguson, Mark K., Turaga, Kiran, Churpek, Jane E., Kindler, Hedy L., Drazer, Michael W.
Publicado 2023

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

por McDonell, Laura M., Mirzaa, Ghayda M., Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T., Lee, Leo J., Clericuzio, Carol L., Graham, John M., Morris-Rosendahl, Deborah J., Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, Smyser, Christopher D., Paciorkowski, Alex R., Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L., Marcadier, Janet, Geraghty, Michael T., Frey, Brendan J., Majewski, Jacek, Bulman, Dennis E., Dobyns, William B., O’Driscoll, Mark, Boycott, Kym M.
Publicado 2013

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

por Ronco, Riccardo, Perini, Cecilia, Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Gennari, Alice, Simone, Roberto, Stuart, Skye, Nagy, Sara, Vegezzi, Elisa, Quartesan, Ilaria, El-Saddig, Amar, Lavin, Timothy, Tucci, Arianna, Szymura, Agnieszka, Novis De Farias, Luiz Eduardo, Gary, Alexander, Delfeld, Megan, Kandikatla, Priscilla, Niu, Nifang, Tawde, Sanjukta, Shaw, Joseph, Polke, James, Reilly, Mary M., Wood, Nick W., Crespan, Emmanuele, Gomez, Christopher, Chen, Jin Yun Helen, Schmahmann, Jeremy Dan, Gosal, David, Houlden, Henry, Das, Soma, Cortese, Andrea
Publicado 2023