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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Published in:
2020
By:
- Mochel, Fanny;
- Rastetter, Agnès;
- Ceulemans, Berten;
- Platzer, Konrad;
- Yang, Sandra;
- Shinde, Deepali N;
- Helbig, Katherine L;
- Lopergolo, Diego;
- Mari, Francesca;
- Renieri, Alessandra;
- Benetti, Elisa;
- Canitano, Roberto;
- Waisfisz, Quinten;
- Plomp, Astrid S;
- Huisman, Sylvia A;
- Wilson, Golder N;
- Cathey, Sara S;
- Louie, Raymond J;
- Gaudio, Daniela Del;
- Waggoner, Darrel
Publication type:
journal article
When moments matter: Finding answers with rapid exome sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1027
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
Publication type:
Article
Sequence dependence of isothermal DNA amplification via EXPAR.
Published in:
Nucleic Acids Research, 2012, v. 40, n. 11, p. e87, doi. 10.1093/nar/gks230
By:
- Qian, Jifeng;
- Ferguson, Tanya M.;
- Shinde, Deepali N.;
- Ramírez-Borrero, Alissa J.;
- Hintze, Arend;
- Adami, Christoph;
- Niemz, Angelika
Publication type:
Article
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
By:
- Glinton, Kevin E.;
- Hurst, Anna C. E.;
- Bowling, Kevin M.;
- Cristian, Ingrid;
- Haynes, Devon;
- Adstamongkonkul, Dusit;
- Schnappauf, Oskar;
- Beck, David B.;
- Brewer, Carole;
- Parikh, Aditi Shah;
- Shinde, Deepali N.;
- Donaldson, Alan;
- Brautbar, Ariel;
- Koene, Saskia;
- Haeringen, Arie;
- Piton, Amélie;
- Capri, Yline;
- Furlan, Margherita;
- Gardella, Elena;
- Møller, Rikke Steensbjerre
Publication type:
Article
An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2858, doi. 10.1002/ajmg.a.40633
By:
- Scheuerle, Angela E.;
- Sweed, Nathan T.;
- Timmons, Charles F.;
- Smith, Erica D.;
- Alcaraz, Wendy A.;
- Shinde, Deepali N.
Publication type:
Article
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2505, doi. 10.1002/ajmg.a.38339
By:
- Theisen, Benjamin E.;
- Rumyantseva, Anastasia;
- Cohen, Julie S.;
- Alcaraz, Wendy A.;
- Shinde, Deepali N.;
- Tang, Sha;
- Srivastava, Siddarth;
- Pevsner, Jonathan;
- Trifunovic, Aleksandra;
- Fatemi, Ali
Publication type:
Article
Simple System for Isothermal DNA Amplification Coupled to Lateral Flow Detection.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069355
By:
- Roskos, Kristina;
- Hickerson, Anna I.;
- Lu, Hsiang-Wei;
- Ferguson, Tanya M.;
- Shinde, Deepali N.;
- Klaue, Yvonne;
- Niemz, Angelika
Publication type:
Article
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Published in:
2016
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
Publication type:
journal article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 24, p. 4937, doi. 10.1093/hmg/ddx377
By:
- Yanyan Peng;
- Shinde, Deepali N.;
- Valencia, C. Alexander;
- Jun-Song Mo;
- Rosenfeld, Jill;
- Cho, Megan Truitt;
- Chamberlin, Adam;
- Zhuo Li;
- Jie Liu;
- Baoheng Gui;
- Brockhage, Rachel;
- Basinger, Alice;
- Alvarez-Leon, Brenda;
- Heydemann, Peter;
- Magoulas, Pilar L.;
- Lewis, Andrea M.;
- Scaglia, Fernando;
- Gril, Solange;
- Shuk Ching Chong;
- Bower, Matthew
Publication type:
Article
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 20, p. 4117, doi. 10.1093/hmg/ddt260
By:
- Shinde, Deepali N.;
- Elmer, Dominik P.;
- Calabrese, Peter;
- Boulanger, Jérôme;
- Arnheim, Norman;
- Tiemann-Boege, Irene
Publication type:
Article
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 772, doi. 10.1002/humu.24342
By:
- Towne, Meghan C.;
- Rossi, Mari;
- Wayburn, Bess;
- Huang, Jennifer M.;
- Radtke, Kelly;
- Alcaraz, Wendy;
- Farwell Hagman, Kelly D.;
- Shinde, Deepali N.
Publication type:
Article
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 600, doi. 10.1002/humu.23183
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.
Publication type:
Article
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
Published in:
BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0240-8
By:
- Mroske, Cameron;
- Rasmussen, Kristen;
- Shinde, Deepali N.;
- Huether, Robert;
- Powis, Zoe;
- Hsiao-Mei Lu;
- Baxter, Ruth M.;
- McPherson, Elizabeth;
- Sha Tang
Publication type:
Article

Found: 13