Search Results - Shinde, Deepali N

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  1. 1
    Product length, dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel

    Product length, dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel by Tiemann-Boege, Irene, Curtis, Christina, Shinde, Deepali N., Goodman, Daniel B, Tavaré, Simon, Arnheim, Norman

    Published 2009
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  2. 2
    New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

    New evidence for positive selection helps explain the paternal age effect observed in achondroplasia by Shinde, Deepali N., Elmer, Dominik P., Calabrese, Peter, Boulanger, Jérôme, Arnheim, Norman, Tiemann-Boege, Irene

    Published 2013
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  3. 3
    Sequence dependence of isothermal DNA amplification via EXPAR

    Sequence dependence of isothermal DNA amplification via EXPAR by Qian, Jifeng, Ferguson, Tanya M., Shinde, Deepali N., Ramírez-Borrero, Alissa J., Hintze, Arend, Adami, Christoph, Niemz, Angelika

    Published 2012
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  4. 4
    Simple System for Isothermal DNA Amplification Coupled to Lateral Flow Detection

    Simple System for Isothermal DNA Amplification Coupled to Lateral Flow Detection by Roskos, Kristina, Hickerson, Anna I., Lu, Hsiang-Wei, Ferguson, Tanya M., Shinde, Deepali N., Klaue, Yvonne, Niemz, Angelika

    Published 2013
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  5. 5
    Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

    Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher by Towne, Meghan C., Rossi, Mari, Wayburn, Bess, Huang, Jennifer M., Radtke, Kelly, Alcaraz, Wendy, Farwell Hagman, Kelly D., Shinde, Deepali N.

    Published 2022
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  6. 6
    Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

    Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy by Peng, Yanyan, Shinde, Deepali N, Alexander Valencia, C, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng

    Published 2018
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  7. 7
    Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

    Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications by Smith, Erica D., Radtke, Kelly, Rossi, Mari, Shinde, Deepali N., Darabi, Sourat, El‐Khechen, Dima, Powis, Zöe, Helbig, Katherine, Waller, Kendra, Grange, Dorothy K., Tang, Sha, Farwell Hagman, Kelly D.

    Published 2017
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  8. 8
    When moments matter: Finding answers with rapid exome sequencing

    When moments matter: Finding answers with rapid exome sequencing by Powis, Zöe, Farwell Hagman, Kelly D., Blanco, Kirsten, Au, Margaret, Graham, John M., Singh, Kathryn, Gallant, Natalie, Randolph, Linda M., Towne, Meghan, Hunter, Jesse, Shinde, Deepali N., Palmaer, Erika, Schoenfeld, Brian, Tang, Sha

    Published 2019
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  9. 9
    A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

    A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses by Smith, Erica D., Blanco, Kirsten, Sajan, Samin A., Hunter, Jesse M., Shinde, Deepali N., Wayburn, Bess, Rossi, Mari, Huang, Jennifer, Stevens, Cathy A., Muss, Candace, Alcaraz, Wendy, Hagman, Kelly D. Farwell, Tang, Sha, Radtke, Kelly

    Published 2019
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  10. 10
    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

    Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation by Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A., Kronn, David F., Freeze, Hudson H.

    Published 2018
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  11. 11
    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities by Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Ali, Cohen, Julie S., Lemke, Johannes, Sørensen, Kristina P., Helbig, Katherine L., Lessel, Davor, Abou Jamra, Rami

    Published 2017
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  12. 12
    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases by Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha

    Published 2017
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  13. 13
    Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases by Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sajan, Samin A, Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E, Tang, Sha

    Published 2018
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  14. 14
    A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

    A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia by Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.

    Published 2016
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  15. 15
    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy by Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G.

    Published 2019
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  16. 16
    Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

    Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability by Wei, Aguan D., Wakenight, Paul, Zwingman, Theresa A., Bard, Angela M., Sahai, Nikhil, Willemsen, Marjolein H., Schelhaas, Helenius J., Stegmann, Alexander P. A., Verhoeven, Judith S., de Man, Stella A., Wessels, Marja W., Kleefstra, Tjitske, Shinde, Deepali N., Helbig, Katherine L., Basinger, Alice, Wagner, Victoria F., Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J., Millen, Kathleen J., Dobyns, William B., Ramirez, Jan-Marino, Kalume, Franck K.

    Published 2022
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  17. 17
    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood by Vögtle, F.-Nora, Brändl, Björn, Larson, Austin, Pendziwiat, Manuela, Friederich, Marisa W., White, Susan M., Basinger, Alice, Kücükköse, Cansu, Muhle, Hiltrud, Jähn, Johanna A., Keminer, Oliver, Helbig, Katherine L., Delto, Carolyn F., Myketin, Lisa, Mossmann, Dirk, Burger, Nils, Miyake, Noriko, Burnett, Audrey, van Baalen, Andreas, Lovell, Mark A., Matsumoto, Naomichi, Walsh, Maie, Yu, Hung-Chun, Shinde, Deepali N., Stephani, Ulrich, Van Hove, Johan L.K., Müller, Franz-Josef, Helbig, Ingo

    Published 2018
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  18. 18
    SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

    SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes by Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

    Published 2019
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  19. 19
    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures by Myers, Candace T., Stong, Nicholas, Mountier, Emily I., Helbig, Katherine L., Freytag, Saskia, Sullivan, Joseph E., Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali N., Rezazadeh, Arezoo, Regan, Brigid M., Oliver, Karen L., Ernst, Michelle E., Lippa, Natalie C., Mulhern, Maureen S., Ren, Zhong, Poduri, Annapurna, Andrade, Danielle M., Bird, Lynne M., Bahlo, Melanie, Berkovic, Samuel F., Lowenstein, Daniel H., Scheffer, Ingrid E., Sadleir, Lynette G., Goldstein, David B., Mefford, Heather C., Heinzen, Erin L.

    Published 2017
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  20. 20
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies by Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami

    Published 2019
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