1. Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases. Issue 1 (5th December 2020) Authors: May, Lauren; Towne, Meghan C.; Haynes, Ginger; Dalton, Emily; LaDuca, Holly; Masciale, Eileen; Stephens, Kim J.; Hogan, Melissa; Shapiro‐Barr, Michael; Sheedy, Roughan; Smith, Erin Other Names: Solomon Benjamin D. guestEditor. Journal: American journal of medical genetics Issue: Volume 187:Issue 1(2021) Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Issue 2 (30th October 2019) Authors: Powis, Zöe; Towne, Meghan C.; Hagman, Kelly D.F.; Blanco, Kirsten; Palmaer, Erika; Castro, Andrew; Sajan, Samin A.; Radtke, Kelly; Feyma, Timothy J.; Juliette, Kali; Tang, Sha; Sidiropoulos, Christos Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant. (7th October 2022) Authors: Shah, Yash B.; Lin, Ping; Chen, Stone; Zheng, Alan; Alcaraz, Wendy; Towne, Meghan C.; Gabriel, Courtney; Bhoj, Elizabeth J.; Lambert, Michele P.; Olson, Timothy S.; Frank, Dale M.; Ellis, Colin A.; Babushok, Daria V. Journal: British journal of haematology Issue: Volume 200:Number 2(2023) Page Start: 222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices. Issue 3 (26th November 2021) Authors: Stefka, Julie; El‐Khechen, Dima; Cain, Taylor; Blanco, Kirsten; Feldmann, Benjamin; Towne, Meghan C.; Hagman, Kelly D. Farwell Journal: Journal of genetic counseling Issue: Volume 31:Issue 3(2022) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Issue 5 (3rd February 2017) Authors: Mehta, Paulomi; Küspert, Melanie; Bale, Tejus; Brownstein, Catherine A.; Towne, Meghan C.; De Girolami, Umberto; Shi, Jiahai; Beggs, Alan H.; Darras, Basil T.; Wegner, Michael; Piao, Xianhua; Agrawal, Pankaj B. Journal: Muscle & nerve Issue: Volume 55:Issue 5(2017) Page Start: 761 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Issue 10 (14th September 2021) Authors: Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Schrier Vergano, Samantha A.; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletc... Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 10(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Issue 5 (16th February 2016) Authors: Brownstein, Catherine A.; Kleiman, Robin J.; Engle, Elizabeth C.; Towne, Meghan C.; D'Angelo, Eugene J.; Yu, Timothy W.; Beggs, Alan H.; Picker, Jonathan; Fogler, Jason M.; Carroll, Devon; Schmitt, Rachel C. O.; Wolff, Robert R.; Shen, Yiping; Lip, Va; Bilguvar, Kaya; Kim, April; Tembulkar, Sahil... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. Issue 3 (19th January 2018) Authors: Quiñones‐Pérez, Bianca; VanNoy, Grace E.; Towne, Meghan C.; Shen, Yiping; Singh, Michael N.; Agrawal, Pankaj B.; Smith, Sharon E. Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗