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. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum. Issue 11 (1st September 2021) Authors: Ziburová, Jana; Nemčovič, Marek; Šesták, Sergej; Bellová, Jana; Pakanová, Zuzana; Siváková, Barbara; Šalingová, Anna; Šebová, Claudia; Ostrožlíková, Mária; Lekka, Dimitra‐Evanthia; Brucknerová, Jana; Brucknerová, Ingrid; Skokňová, Martina; Mc Cullough, Alexandra; Hrčková, Gabriela; Hlavatá, Anna;... Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Promising Option for ADA‐SCID Patients. Issue 11 (15th October 2021) Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3184 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy. Issue 11 (27th August 2021) Authors: Rydzanicz, Małgorzata; Zwoliński, Piotr; Gasperowicz, Piotr; Pollak, Agnieszka; Kostrzewa, Grażyna; Walczak, Anna; Konarzewska, Magdalena; Płoski, Rafał Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ACMG Releases Guidelines for Exome and Genome Sequencing for Pediatric Patients. Issue 11 (15th October 2021) Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Age at and indication for diagnosis of Turner syndrome in the pediatric population. Issue 11 (13th August 2021) Authors: Swauger, Sarah; Backeljauw, Philippe; Hornung, Lindsey; Shafer, Jessica; Casnellie, Lori; Gutmark‐Little, Iris Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3411 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. Issue 11 (26th August 2021) Authors: Warshauer, Emily Mira; Brown, Adam; Fuentes, Ignacia; Shortt, Jonathan; Gignoux, Chris; Montinaro, Francesco; Metspalu, Mait; Youssefian, Leila; Vahidnezhad, Hassan; Jacków, Joanna; Christiano, Angela M.; Uitto, Jouni; Fajardo‐Ramírez, Óscar R.; Salas‐Alanis, Julio C.; McGrath, John A.; Consuegra... Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3390 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Anticipating the ethical, legal, and social implications of human genome research: An ongoing experiment. Issue 11 (22nd June 2021) Authors: Juengst, Eric T. Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗