1. A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency. Issue 4 (28th December 2022) Authors: Prasun, Pankaj; Evans, Anthony; Cork, Emalyn; Houten, Sander M.; Webb, Bryn D. Journal: American journal of medical genetics Issue: Volume 191:Issue 4(2023) Page Start: 1089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover. Issue 2 (7th February 2020) Authors: Akler, Gidon; Birch, Ashley H.; Schreiber‐Agus, Nicole; Cai, Xiaoqiang; Cai, Guiqing; Shi, Lisong; Yu, Chunli; Larmore, Anastasia M.; Mendiratta‐Vij, Geetu; Elkhoury, Lama; Dillon, Mitchell W.; Zhu, Jun; Mclellan, Andrew S.; Suer, Funda E.; Webb, Bryn D.; Schadt, Eric E.; Kornreich, Ruth; Edelman... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 2(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. Issue 4 (19th January 2021) Authors: Lehky, Tanya; Joseph, Reversa; Toro, Camilo; Wu, Tianxia; Van Ryzin, Carol; Gropman, Andrea; Facio, Flavia M.; Webb, Bryn D.; Jabs, Ethylin W.; Barry, Brenda S.; Engle, Elizabeth C.; Collins, Francis S.; Manoli, Irini Journal: Muscle & nerve Issue: Volume 63:Issue 4(2021) Page Start: 516 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Issue 6 (15th April 2021) Authors: Webb, Bryn D.; Evans, Anthony; Naidich, Thomas P.; Bird, Lynne M.; Parikh, Sumit; Fernandez Garcia, Meilin; Henderson, Lindsay B.; Millan, Francisca; Si, Yue; Brennand, Kristen J.; Hung, Peter; Rucker, Janet C.; Wheeler, Patricia G.; Schadt, Eric E. Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects. Issue 5 (5th March 2020) Authors: Cohen, Ana S. A.; Simotas, Christopher; Webb, Bryn D.; Shi, Huanzhi; Khan, Wahab A.; Edelmann, Lisa; Scott, Stuart A.; Singh, Ram Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 1263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal‐Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome. Issue 4 (2nd February 2017) Authors: Webb, Bryn D.; Metikala, Sanjeeva; Wheeler, Patricia G.; Sherpa, Mingma D.; Houten, Sander M.; Horb, Marko E.; Schadt, Eric E. Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome. Issue 10 (4th August 2017) Authors: Telegrafi, Aida; Webb, Bryn D.; Robbins, Sarah M.; Speck‐Martins, Carlos E.; FitzPatrick, David; Fleming, Leah; Redett, Richard; Dufke, Andreas; Houge, Gunnar; van Harssel, Jeske J. T.; Verloes, Alain; Robles, Angela; Manoli, Irini; Engle, Elizabeth C.; Jabs, Ethylin W.; Valle, David; Carey, John... Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients. Issue 2 (27th December 2019) Authors: Akler, Gidon; Birch, Ashley H.; Schreiber‐Agus, Nicole; Cai, Xiaoqiang; Cai, Guiqing; Shi, Lisong; Yu, Chunli; Larmore, Anastasia M.; Mendiratta‐Vij, Geetu; Elkhoury, Lama; Dillon, Mitchell W.; Zhu, Jun; Mclellan, Andrew S.; Suer, Funda E.; Webb, Bryn D.; Schadt, Eric E.; Kornreich, Ruth; Edelman... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 2(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗