1. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Issue 4 (9th September 2016) Authors: 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.; S... Journal: Annals of neurology Issue: Volume 80:Issue 4(2016:Oct.) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3. Issue 12 (18th November 2018) Authors: Scheuerle, Angela E.; Sweed, Nathan T.; Timmons, Charles F.; Smith, Erica D.; Alcaraz, Wendy A.; Shinde, Deepali N. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2858 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Issue 5 (13th February 2017) Authors: 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. Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Issue 9 (26th June 2017) Authors: Theisen, Benjamin E.; Rumyantseva, Anastasia; Cohen, Julie S.; Alcaraz, Wendy A.; Shinde, Deepali N.; Tang, Sha; Srivastava, Siddarth; Pevsner, Jonathan; Trifunovic, Aleksandra; Fatemi, Ali Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher. Issue 6 (2nd March 2022) Authors: Towne, Meghan C.; Rossi, Mari; Wayburn, Bess; Huang, Jennifer M.; Radtke, Kelly; Alcaraz, Wendy; Farwell Hagman, Kelly D.; Shinde, Deepali N. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 772 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. DNM1 encephalopathy: A new disease of vesicle fission. (25th July 2017) Authors: von Spiczak, Sarah; Helbig, Katherine L.; Shinde, Deepali N.; Huether, Robert; Pendziwiat, Manuela; Lourenço, Charles; Nunes, Mark E.; Sarco, Dean P.; Kaplan, Richard A.; Dlugos, Dennis J.; Kirsch, Heidi; Slavotinek, Anne; Cilio, Maria R.; Cervenka, Mackenzie C.; Cohen, Julie S.; McClellan, Rebec... Journal: Neurology Issue: Volume 89:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021) Authors: 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; van Haeringen, Arie; Piton, Amélie; Capri, ... Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. When moments matter: Finding answers with rapid exome sequencing. Issue 2 (24th December 2019) Authors: 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 Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 2(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗