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Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13026-2
By:
- Ganapathi, Mythily;
- Thomas-Wilson, Amanda;
- Buchovecky, Christie;
- Dharmadhikari, Avinash;
- Barua, Subit;
- Lee, Winston;
- Ruan, Merry Z. C.;
- Soucy, Megan;
- Ragi, Sara;
- Tanaka, Joy;
- Clark, Lorraine N.;
- Naini, Ali B.;
- Liao, Jun;
- Mansukhani, Mahesh;
- Tsang, Stephen;
- Jobanputra, Vaidehi
Publication type:
Article
Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.
Published in:
Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 709, doi. 10.1007/s10897-017-0172-x
By:
- Wynn, Julia;
- Martinez, Josue;
- Bulafka, Jessica;
- Chung, Wendy K.;
- Duong, Jimmy;
- Zhang, Yuan;
- Chiuzan, Codruta;
- Preti, Jain;
- Cremona, Maria L.;
- Jobanputra, Vaidehi;
- Fyer, Abby J.;
- Klitzman, Robert L.;
- Appelbaum, Paul S.
Publication type:
Article
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63798
By:
- McNamee, Lucy;
- Schoch, Kelly;
- Huang, Alden;
- Lee, Hane;
- Wang, Lee‐kai;
- Smith, Edward C.;
- Lark, Robert K.;
- Buckley, Anne F.;
- Jobanputra, Vaidehi;
- Nelson, Stanley F.;
- Shashi, Vandana;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley
Publication type:
Article
Bohring-Opitz Syndrome (BOS) with a New ASXL1 Pathogenic Variant: Review of the Most Prevalent Molecular and Phenotypic Features of the Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3161, doi. 10.1002/ajmg.a.37342
By:
- Dangiolo, Silvana Beatriz;
- Wilson, Ashley;
- Jobanputra, Vaidehi;
- Anyane‐Yeboa, Kwame
Publication type:
Article
Duplication of the ZIC2 gene is not associated with holoprosencephaly.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 103, doi. 10.1002/ajmg.a.34375
By:
- Jobanputra, Vaidehi;
- Burke, Alanna;
- Kwame, Anyane-Yeboa;
- Shanmugham, Anita;
- Shirazi, Maryam;
- Brown, Stephen;
- Warburton, Peter E.;
- Levy, Brynn;
- Warburton, Dorothy
Publication type:
Article
Phenotypic expansion and progression of <italic>SPATA7</italic>-associated retinitis pigmentosa.
Published in:
2018
By:
- Sengillo, Jesse D.;
- Lee, Winston;
- Bilancia, Colleen G.;
- Jobanputra, Vaidehi;
- Tsang, Stephen H.
Publication type:
Case Study
Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068343
By:
- Margolskee, Elizabeth;
- Jobanputra, Vaidehi;
- Lewis, Suzanne K.;
- Alobeid, Bachir;
- Green, Peter H. R.;
- Bhagat, Govind
Publication type:
Article
Molecular genetics of schizophrenia: a critical review.
Published in:
Journal of Psychiatry & Neuroscience, 2003, v. 28, n. 6, p. 415
By:
- Berry, Neeraj;
- Pal, Hemraj;
- Jobanputra, Vaidehi
Publication type:
Article
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Published in:
Human Genetics, 2014, v. 133, n. 1, p. 11, doi. 10.1007/s00439-013-1353-9
By:
- Warburton, Dorothy;
- Ronemus, Michael;
- Kline, Jennie;
- Jobanputra, Vaidehi;
- Williams, Ismee;
- Anyane-Yeboa, Kwame;
- Chung, Wendy;
- Yu, Lan;
- Wong, Nancy;
- Awad, Danielle;
- Yu, Chih-yu;
- Leotta, Anthony;
- Kendall, Jude;
- Yamrom, Boris;
- Lee, Yoon-ha;
- Wigler, Michael;
- Levy, Dan
Publication type:
Article
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00396-x
By:
- Wigby, Kristen M.;
- Brockman, Deanna;
- Costain, Gregory;
- Hale, Caitlin;
- Taylor, Stacie L.;
- Belmont, John;
- Bick, David;
- Dimmock, David;
- Fernbach, Susan;
- Greally, John;
- Jobanputra, Vaidehi;
- Kulkarni, Shashikant;
- Spiteri, Elizabeth;
- Taft, Ryan J.
Publication type:
Article
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
By:
- Austin-Tse, Christina A.;
- Jobanputra, Vaidehi;
- Perry, Denise L.;
- Bick, David;
- Taft, Ryan J.;
- Venner, Eric;
- Gibbs, Richard A.;
- Young, Ted;
- Barnett, Sarah;
- Belmont, John W.;
- Boczek, Nicole;
- Chowdhury, Shimul;
- Ellsworth, Katarzyna A.;
- Guha, Saurav;
- Kulkarni, Shashikant;
- Marcou, Cherisse;
- Meng, Linyan;
- Murdock, David R.;
- Rehman, Atteeq U.;
- Spiteri, Elizabeth
Publication type:
Article
Clinical utility of genomic sequencing: a measurement toolkit.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00164-7
By:
- 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
Publication type:
Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
By:
- Marshall, Christian R.;
- Chowdhury, Shimul;
- Taft, Ryan J.;
- Lebo, Mathew S.;
- Buchan, Jillian G.;
- Harrison, Steven M.;
- Rowsey, Ross;
- Klee, Eric W.;
- Liu, Pengfei;
- Worthey, Elizabeth A.;
- Jobanputra, Vaidehi;
- Dimmock, David;
- Kearney, Hutton M.;
- Bick, David;
- Kulkarni, Shashikant;
- Taylor, Stacie L.;
- Belmont, John W.;
- Stavropoulos, Dimitri J.;
- Lennon, Niall J.
Publication type:
Article
RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes.
Published in:
Cancers, 2021, v. 13, n. 24, p. 6174, doi. 10.3390/cancers13246174
By:
- Di Napoli, Arianna;
- Vacca, Davide;
- Bertolazzi, Giorgio;
- Lopez, Gianluca;
- Piane, Maria;
- Germani, Aldo;
- Rogges, Evelina;
- Pepe, Giuseppina;
- Santanelli Di Pompeo, Fabio;
- Salgarello, Marzia;
- Jobanputra, Vaidehi;
- Hsiao, Susan;
- Wrzeszczynski, Kazimierz O.;
- Berti, Emilio;
- Bhagat, Govind
Publication type:
Article
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
Published in:
2022
By:
- Barua, Subit;
- Pereira, Elaine M.;
- Jobanputra, Vaidehi;
- Anyane-Yeboa, Kwame;
- Levy, Brynn;
- Liao, Jun
Publication type:
Case Study
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 627, doi. 10.1515/jpem-2015-0253
By:
- Sparling, David P.;
- Fabian, Kendra;
- Harik, Lara;
- Jobanputra, Vaidehi;
- Anyane-Yeboa, Kwame;
- Oberfield, Sharon E.;
- Fennoy, Ilene
Publication type:
Article
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55636-3
By:
- 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
Publication type:
Article
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
Published in:
Clinical Case Reports, 2018, v. 6, n. 1, p. 200, doi. 10.1002/ccr3.1284
By:
- Abhyankar, Avinash;
- Lamendola‐Essel, Michelle;
- Brennan, Kelly;
- Giordano, Jessica L.;
- Esteves, Cecilia;
- Felice, Vanessa;
- Wapner, Ronald;
- Jobanputra, Vaidehi
Publication type:
Article
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic.
Published in:
Clinical Genetics, 2024, v. 105, n. 1, p. 62, doi. 10.1111/cge.14437
By:
- Sullivan, Jennifer A.;
- Spillmann, Rebecca C.;
- Schoch, Kelly;
- Walley, Nicole;
- Alkelai, Anna;
- Stong, Nicholas;
- Shea, Patrick R.;
- Petrovski, Slavè;
- Jobanputra, Vaidehi;
- McConkie‐Rosell, Allyn;
- Shashi, Vandana
Publication type:
Article
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Published in:
2020
By:
- Abdelhakim, Aliaa H.;
- Dharmadhikari, Avinash V.;
- Ragi, Sara D.;
- de Carvalho, Jose Ronaldo Lima;
- Xu, Christine L.;
- Thomas, Amanda L.;
- Buchovecky, Christie M.;
- Mansukhani, Mahesh M.;
- Naini, Ali B.;
- Liao, Jun;
- Jobanputra, Vaidehi;
- Maumenee, Irene H.;
- Tsang, Stephen H.;
- de Carvalho, Jose Ronaldo Lima Jr
Publication type:
journal article
Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions.
Published in:
2002
By:
- Jobanputra, Vaidehi;
- Sobrino, Antonio;
- Kinney, Ann;
- Kline, Jennie;
- Warburton, Dorothy
Publication type:
journal article
High‐resolution genomic alterations in Barrett's metaplasia of patients who progress to esophageal dysplasia and adenocarcinoma.
Published in:
International Journal of Cancer, 2019, v. 145, n. 10, p. 2754, doi. 10.1002/ijc.32351
By:
- Sepulveda, Jorge L.;
- Komissarova, Elena V.;
- Kongkarnka, Sarawut;
- Friedman, Richard A.;
- Davison, Jon M.;
- Levy, Brynn;
- Bryk, Diana;
- Jobanputra, Vaidehi;
- Del Portillo, Armando;
- Falk, Gary W.;
- Sonett, Joshua R.;
- Lightdale, Charles J.;
- Abrams, Julian A.;
- Wang, Timothy C.;
- Sepulveda, Antonia R.
Publication type:
Article
G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic.
Published in:
American Journal of Tropical Medicine & Hygiene, 2015, v. 93, n. 4, p. 722, doi. 10.4269/ajtmh.14-0295
By:
- Xu, Julia Z.;
- Francis, Richard O.;
- Nadal, Leonel E. Lerebours;
- Shirazi, Maryam;
- Jobanputra, Vaidehi;
- Hod, Eldad A.;
- Jhang, Jeffrey S.;
- Stotler, Brie A.;
- Spitalnik, Steven L.;
- Nicholas, Stephen W.
Publication type:
Article
Practical diagnostic approaches to composite plasma cell neoplasm and low grade B-cell lymphoma/clonal infiltrates in the bone marrow.
Published in:
Hematological Oncology, 2015, v. 33, n. 1, p. 31, doi. 10.1002/hon.2129
By:
- Hussein, Shafinaz;
- Gill, Kamraan;
- Baer, Lea N.;
- Hoehn, Daniela;
- Mansukhani, Mahesh;
- Jobanputra, Vaidehi;
- Bhagat, Govind;
- Alobeid, Bachir
Publication type:
Article
Peripheral T-cell lymphoma emerging in a patient with aggressive polymyositis: molecular evidence for neoplastic transformation of an oligoclonal T-cell infiltrate.
Published in:
2013
By:
- Tsankova, Nadejda;
- Bevan, Carolyn;
- Jobanputra, Vaidehi;
- Ko, Yen;
- Mayer, Elizabeth;
- Lefkowitch, Jay;
- Mansukhani, Mahesh;
- Rowland, Lewis;
- Bhagat, Govind;
- Tanji, Kurenai
Publication type:
Report
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.
Published in:
2022
By:
- Dharmadhikari, Avinash V.;
- Pereira, Elaine M.;
- Andrews, Carli C.;
- Macera, Michael;
- Harkavy, Nina;
- Wapner, Ronald;
- Jobanputra, Vaidehi;
- Levy, Brynn;
- Ganapathi, Mythily;
- Liao, Jun
Publication type:
Case Study
The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1884, doi. 10.1002/ajmg.a.34090
By:
- Torgyekes, Edina;
- Shanske, Alan L.;
- Anyane-Yeboa, Kwame;
- Nahum, Odelia;
- Pirzadeh, Sara;
- Blumfield, Einat;
- Jobanputra, Vaidehi;
- Warburton, Dorothy;
- Levy, Brynn
Publication type:
Article
Mutations in the Cholesterol Transporter Gene <i>ABCA5</i> Are Associated with Excessive Hair Overgrowth.
Published in:
PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004333
By:
- DeStefano, Gina M.;
- Kurban, Mazen;
- Anyane-Yeboa, Kwame;
- Dall'Armi, Claudia;
- Di Paolo, Gilbert;
- Feenstra, Heather;
- Silverberg, Nanette;
- Rohena, Luis;
- López-Cepeda, Larissa D.;
- Jobanputra, Vaidehi;
- Fantauzzo, Katherine A.;
- Kiuru, Maija;
- Tadin-Strapps, Marija;
- Sobrino, Antonio;
- Vitebsky, Anna;
- Warburton, Dorothy;
- Levy, Brynn;
- Salas-Alanis, Julio C.;
- Christiano, Angela M.
Publication type:
Article
Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens.
Published in:
Prenatal Diagnosis, 2011, v. 31, n. 8, p. 755, doi. 10.1002/pd.2759
By:
- Jobanputra, Vaidehi;
- Esteves, Cecilia;
- Sobrino, Antonio;
- Brown, Stephen;
- Kline, Jennie;
- Warburton, Dorothy
Publication type:
Article
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.
Published in:
Prenatal Diagnosis, 2005, v. 25, n. 8, p. 683, doi. 10.1002/pd.1196
By:
- Jobanputra, Vaidehi;
- Chung, Wendy K.;
- Hacker, April M.;
- Emanuel, Beverly S.;
- Warburton, Dorothy
Publication type:
Article
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006248
By:
- Ganapathi, Mythily;
- Buchovecky, Christie M.;
- Cristo, Fernando;
- Ahimaz, Priyanka;
- Ruzal-Shapiro, Carrie;
- Wou, Karen;
- Inácio, José M.;
- Iglesias, Alejandro;
- Belo, José A.;
- Jobanputra, Vaidehi
Publication type:
Article
Expanding the phenotype of ATP6AP1 deficiency.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006195
By:
- Barua, Subit;
- Berger, Sara;
- Pereira, Elaine M.;
- Jobanputra, Vaidehi
Publication type:
Article
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173
By:
- Thomas-Wilson, Amanda;
- Dharmadhikari, Avinash V.;
- Heymann, Jonas J.;
- Jobanputra, Vaidehi;
- DiMauro, Salvatore;
- Hirano, Michio;
- Naini, Ali B.;
- Ganapathi, Mythily
Publication type:
Article
Metastatic pediatric sclerosing epithelioid fibrosarcoma.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 5, p. 1, doi. 10.1101/mcs.a006093
By:
- Woods, Andrew D.;
- Purohit, Reshma;
- Mitchel, Laura Crocker;
- Collier, John R.;
- Collier, Katherine A.;
- Lathara, Melvin;
- Learned, Katrina;
- Vaske, Olena;
- Geiger, Heather;
- Wrzeszczynski, Kazimierz O.;
- Jobanputra, Vaidehi;
- Srinivasa, Ganapati;
- Rudzinski, Erin R.;
- Whelan, Kimberly;
- Beierle, Elizabeth;
- Spunt, Sheri L.;
- Keller, Charles;
- Wadhwa, Aman
Publication type:
Article
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00410-2
By:
- Jobanputra, Vaidehi;
- Schroeder, Brock;
- Rehm, Heidi L.;
- Shen, Wei;
- Spiteri, Elizabeth;
- Nakouzi, Ghunwa;
- Taylor, Stacie;
- Marshall, Christian R.;
- Meng, Linyan;
- Kingsmore, Stephen F.;
- Ellsworth, Katarzyna;
- Ashley, Euan;
- Taft, Ryan J.
Publication type:
Article
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Published in:
2018
By:
- Lata, Sneh;
- Marasa, Maddalena;
- Li, Yifu;
- Fasel, David A.;
- Groopman, Emily;
- Jobanputra, Vaidehi;
- Rasouly, Hila;
- Mitrotti, Adele;
- Westland, Rik;
- Verbitsky, Miguel;
- Nestor, Jordan;
- Slater, Lindsey M.;
- D'Agati, Vivette;
- Zaniew, Marcin;
- Materna-Kiryluk, Anna;
- Lugani, Francesca;
- Caridi, Gianluca;
- Rampoldi, Luca;
- Mattoo, Aditya;
- Newton, Chad A.
Publication type:
journal article
Indel variant analysis of short-read sequencing data with Scalpel.
Published in:
Nature Protocols, 2016, v. 11, n. 12, p. 2529, doi. 10.1038/nprot.2016.150
By:
- Fang, Han;
- Bergmann, Ewa A;
- Arora, Kanika;
- Vacic, Vladimir;
- Zody, Michael C;
- Iossifov, Ivan;
- O'Rawe, Jason A;
- Wu, Yiyang;
- Jimenez Barron, Laura T;
- Rosenbaum, Julie;
- Ronemus, Michael;
- Lee, Yoon-ha;
- Wang, Zihua;
- Dikoglu, Esra;
- Jobanputra, Vaidehi;
- Lyon, Gholson J;
- Wigler, Michael;
- Schatz, Michael C;
- Narzisi, Giuseppe
Publication type:
Article
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00748-z
By:
- Marshall, Christian R.;
- Bick, David;
- Belmont, John W.;
- Taylor, Stacie L.;
- Ashley, Euan;
- Dimmock, David;
- Jobanputra, Vaidehi;
- Kearney, Hutton M.;
- Kulkarni, Shashikant;
- Rehm, Heidi
Publication type:
Article

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