1. A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships. Issue 6 (1st March 2022) Authors: Taylor, Julie P.; Malhotra, Alka; Burns, Nicole J.; Clause, Amanda R.; Brown, Carolyn M.; Burns, Brendan T.; Chandrasekhar, Anjana; Schlachetzki, Zinayida; Bennett, Maren; Thorpe, Erin; Taft, Ryan J.; Perry, Denise L.; Coffey, Alison J. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm. Issue 6 (22nd February 2022) Authors: Fujiwara, Toyofumi; Shin, Jae‐Moon; Yamaguchi, Atsuko Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 734 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Issue 4 (10th December 2018) Authors: Wong, Bibiana K. Y.; Sutton, V. Reid Other Names: Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 4(2018) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome. Issue 4 (22nd December 2018) Authors: Moog, Ute; Dobyns, William B. Other Names: Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 4(2018) Page Start: 414 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond. Issue 6 (8th April 2022) Authors: Rambla, Jordi; Baudis, Michael; Ariosa, Roberto; Beck, Tim; Fromont, Lauren A.; Navarro, Arcadi; Paloots, Rahel; Rueda, Manuel; Saunders, Gary; Singh, Babita; Spalding, John D.; Törnroos, Juha; Vasallo, Claudia; Veal, Colin D.; Brookes, Anthony J. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research. Issue 4 (22nd December 2018) Authors: Innes, A. Micheil; McInnes, Brenda L.; Dyment, David A. Other Names: Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 4(2018) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 178, Number 4, December 2018. Issue 4 (22nd December 2018) Other Names: Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 4(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover, Volume 43, Issue 6. Issue 6 (20th May 2022) Authors: Boycott, Kym M.; Azzariti, Danielle R.; Hamosh, Ada; Rehm, Heidi L. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research. Issue 6 (21st February 2022) Authors: Foreman, Julia; Brent, Simon; Perrett, Daniel; Bevan, Andrew P.; Hunt, Sarah E.; Cunningham, Fiona; Hurles, Matthew E.; Firth, Helen V. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 682 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗