Torthaí cuardaigh - Jobanputra, Vaidehi

Molecular genetics of schizophrenia: a critical review de réir Berry, Neeraj, Jobanputra, Vaidehi, Pal, Hemraj

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Expanding the phenotype of ATP6AP1 deficiency de réir Barua, Subit, Berger, Sara, Pereira, Elaine M., Jobanputra, Vaidehi

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DISTINCT PROPERTIES OF CYCLIN DEPENDENT KINASES COMPLEXES CONTAINING CYCLIN A1 AND CYCLIN A2 de réir Joshi, Ayesha R., Jobanputra, Vaidehi, Lele, Karen M., Wolgemuth, Debra J.

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A unique case of der(11)t(11;22),−22 arising from 3 : 1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer de réir Jobanputra, Vaidehi, Chung, Wendy K., Hacker, April M., Emanuel, Beverly S., Warburton, Dorothy

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Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens de réir Jobanputra, Vaidehi, Esteves, Cecilia, Sobrino, Antonio, Brown, Stephen, Kline, Jennie, Warburton, Dorothy

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Phenotypic Expansion and Progression of SPATA7-associated Retinitis Pigmentosa de réir Sengillo, Jesse D., Lee, Winston, Bilancia, Colleen G., Jobanputra, Vaidehi, Tsang, Stephen H.

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3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities de réir Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun

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Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features de réir Margolskee, Elizabeth, Jobanputra, Vaidehi, Lewis, Suzanne K., Alobeid, Bachir, Green, Peter H. R., Bhagat, Govind

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Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase de réir Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene

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Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency de réir Abhyankar, Avinash, Lamendola‐Essel, Michelle, Brennan, Kelly, Giordano, Jessica L., Esteves, Cecilia, Felice, Vanessa, Wapner, Ronald, Jobanputra, Vaidehi

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Duplication of the ZIC2 gene is not associated with holoprosencephaly de réir Jobanputra, Vaidehi, Burke, Alanna, Kwame, Anyane-Yeboa, Shanmugham, Anita, Shirazi, Maryam, Brown, Stephen, Warburton, Peter E., Levy, Brynn, Warburton, Dorothy

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Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies de réir Jobanputra, Vaidehi, Andrews, Peter, Felice, Vanessa, Abhyankar, Avinash, Kozon, Lukasz, Robinson, Dino, London, Ferrah, Hakker, Inessa, Wrzeszczynski, Kazimierz, Ronemus, Michael

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Prenatal PAH Exposure is Associated with Chromosome-specific Aberrations in Cord Blood de réir Orjuela, Manuela A., Liu, XinHua, Warburton, Dorothy, Siebert, Aisha L., Cujar, Claudia, Tang, DeLiang, Jobanputra, Vaidehi, Perera, Frederica P.

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Whole-exome sequencing detects PYGM variants in two adults with McArdle disease de réir Thomas-Wilson, Amanda, Dharmadhikari, Avinash V., Heymann, Jonas J., Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B., Ganapathi, Mythily

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Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl de réir Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun

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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic de réir Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi

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Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders de réir Margolskee, Elizabeth, Jobanputra, Vaidehi, Jain, Preti, Chen, Jinli, Ganapathi, Karthik, Nahum, Odelia, Levy, Brynn, Morscio, Julie, Murty, Vundavalli, Tousseyn, Thomas, Alobeid, Bachir, Mansukhani, Mahesh, Bhagat, Govind

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Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms de réir Arora, Kanika, Shah, Minita, Johnson, Molly, Sanghvi, Rashesh, Shelton, Jennifer, Nagulapalli, Kshithija, Oschwald, Dayna M., Zody, Michael C., Germer, Soren, Jobanputra, Vaidehi, Carter, Jade, Robine, Nicolas

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Clinical utility of genomic sequencing: a measurement toolkit de réir Hayeems, Robin Z., Dimmock, David, Bick, David, Belmont, John W., Green, Robert C., Lanpher, Brendan, Jobanputra, Vaidehi, Mendoza, Roberto, Kulkarni, Shashi, Grove, Megan E., Taylor, Stacie L., Ashley, Euan

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Urinary naphthol metabolites and chromosomal aberrations in 5 yr old children de réir Orjuela, Manuela A., Liu, XinHua, Miller, Rachel L., Warburton, Dorothy, Tang, DeLiang, Jobanputra, Vaidehi, Hoepner, Lori, Suen, Ida Hui, Diaz-Carreno, Silvia, Li, Zheng, Sjodin, Andreas, Perera, Frederica P.

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