1. Clinical utility of multigene analysis in over 25, 000 patients with neuromuscular disorders. (April 2020) Authors: Winder, Thomas L.; Tan, Christopher A.; Klemm, Sarah; White, Hannah; Westbrook, Jody M.; Wang, James Z.; Entezam, Ali; Truty, Rebecca; Nussbaum, Robert L.; McNally, Elizabeth M.; Aradhya, Swaroop Journal: Neurology Issue: Volume 6:Number 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover, Volume 43, Issue 2. Issue 2 (28th January 2022) Authors: Sarafrazi, Soodabeh; Daugherty, Sean C.; Miller, Nicole; Boada, Patrick; Carpenter, Thomas O.; Chunn, Lauren; Dill, Kariena; Econs, Michael J.; Eisenbeis, Scott; Imel, Erik A.; Johnson, Britt; Kiel, Mark J.; Krolczyk, Stan; Ramesan, Prameela; Truty, Rebecca; Sabbagh, Yves Journal: Human mutation Issue: Volume 43:Issue 2(2022) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR. Issue 9 (10th July 2021) Authors: Nykamp, Keith; Truty, Rebecca; Riethmaier, Darlene; Wilkinson, Julia; Bristow, Sara L.; Aguilar, Sienna; Neitzel, Dana; Faulkner, Nicole; Aradhya, Swaroop Journal: Human mutation Issue: Volume 42:Issue 9(2021) Page Start: 1165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing. Issue 8 (23rd June 2020) Authors: Schmidt, Johanna L.; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A.; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T.; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M.; Kirwin, Susan; Krock, Bryan; Lee, Han... Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1906 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program. (10th November 2021) Authors: Rush, Eric T.; Johnson, Britt; Aradhya, Swaroop; Beltran, Daniel; Bristow, Sara L.; Eisenbeis, Scott; Guerra, Norma E.; Krolczyk, Stan; Miller, Nicole; Morales, Ana; Ramesan, Prameela; Sarafrazi, Soodabeh; Truty, Rebecca; Dahir, Kathryn Journal: Journal of bone and mineral research Issue: Volume 37:Number 2(2022) Page Start: 202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH). Issue 2 (5th December 2021) Authors: Sarafrazi, Soodabeh; Daugherty, Sean C.; Miller, Nicole; Boada, Patrick; Carpenter, Thomas O.; Chunn, Lauren; Dill, Kariena; Econs, Michael J.; Eisenbeis, Scott; Imel, Erik A.; Johnson, Britt; Kiel, Mark J.; Krolczyk, Stan; Ramesan, Prameela; Truty, Rebecca; Sabbagh, Yves Journal: Human mutation Issue: Volume 43:Issue 2(2022) Page Start: 143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Issue 3 (1st July 2019) Authors: Truty, Rebecca; Patil, Nila; Sankar, Raman; Sullivan, Joseph; Millichap, John; Carvill, Gemma; Entezam, Ali; Esplin, Edward D.; Fuller, Amy; Hogue, Michelle; Johnson, Britt; Khouzam, Amirah; Kobayashi, Yuya; Lewis, Rachel; Nykamp, Keith; Riethmaier, Darlene; Westbrook, Jody; Zeman, Michelle; Nuss... Journal: Epilepsia open Issue: Volume 4:Issue 3(2019) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Issue 8 (4th July 2019) Authors: Morimoto, Kozo; Hijikata, Minako; Zariwala, Maimoona A.; Nykamp, Keith; Inaba, Atsushi; Guo, Tz‐Chun; Yamada, Hiroyuki; Truty, Rebecca; Sasaki, Yuka; Ohta, Ken; Kudoh, Shoji; Leigh, Margaret W.; Knowles, Michael R.; Keicho, Naoto Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Scalable detection of technically challenging variants through modified next‐generation sequencing. Issue 12 (17th October 2022) Authors: Rojahn, Susan; Hambuch, Tina; Adrian, Jessika; Gafni, Erik; Gileta, Alex; Hatchell, Hannah; Johnson, Britt; Kallman, Ben; Karfilis, Kate; Kautzer, Curtis; Kennemer, Michael; Kirk, Lloyd; Kvitek, Daniel; Lettes, Jessica; Macrae, Fenner; Mendez, Fernando; Paul, Joshua; Pellegrino, Maurizio; Preciad... Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 12(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance. Issue 9 (16th May 2022) Authors: Johnson, Britt; Ouyang, Karen; Frank, Lauren; Truty, Rebecca; Rojahn, Susan; Morales, Ana; Aradhya, Swaroop; Nykamp, Keith Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗