1. A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. Issue 6 (26th September 2022) Authors: Katler, Quinton S.; Stepien, Karolina M.; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T.; Bosch, Annet M.; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, B... Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 6(2022) Page Start: 1106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy. Issue 3 (27th December 2019) Authors: Mendelsohn, Bryce A.; Beleford, Daniah T.; Abu‐El‐Haija, Aya; Alsaleh, Norah S.; Rahbeeni, Zuhair; Martin, Pierre‐Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T.; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S.; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL). Issue 8 (12th May 2014) Authors: Mendelsohn, Bryce A.; Pronold, Melissa; Long, Roger; Smaoui, Nizar; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2079 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical spectrum of STX1B-related epileptic disorders. (12th March 2019) Authors: Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.;... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Issue 4 (25th March 2018) Authors: Hirabayashi, Kristin E.; Moore, Anthony T.; Mendelsohn, Bryce A.; Taft, Ryan J.; Chawla, Aditi; Perry, Denise; Henry, Duncan; Slavotinek, Anne Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 997 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanded Carrier Screening and the Complexity of Implementation. Issue 5 (May 2021) Authors: Mendelsohn, Bryce A. Journal: Obstetrics and gynecology Issue: Volume 137:Issue 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Long-term Speech Outcomes of Cleft Palate Repair in Robin Sequence versus Isolated Cleft Palate. Issue 1 (January 2021) Authors: Logjes, Robrecht J. H.; Upton, Susanna; Mendelsohn, Bryce A.; Badiee, Ryan K.; Breugem, Corstiaan C.; Hoffman, William Y.; Pomerantz, Jason H. Journal: Plastic and reconstructive surgery Issue: Volume 9:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy. Issue 5 (2nd March 2023) Authors: Niehaus, Annie D.; Mendelsohn, Bryce A.; Zimmerman, Bree; Lee, Chung U.; Manning, Melanie A.; Cusmano‐Ozog, Kristina P.; Tise, Christina G. Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum. Issue 1 (8th December 2019) Authors: Mendes, Marisa I.; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Dani... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 1(2020) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019) Authors: Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein... Journal: Human mutation Issue: Volume 40:Issue 7(2019) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗