1. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Issue 1 (12th September 2021) Authors: Odom, John; Amin, Hitha; Gijavanekar, Charul; Elsea, Sarah H.; Kralik, Stephen; Chinen, Javier; Lin, Yuezhen; Yates, Amber Meshell Mayfield; Mizerik, Elizabeth; Potocki, Lorraine; Scaglia, Fernando Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. (September 2021) Authors: Lim, Jaehyung; Shayota, Brian J.; Lay, Erica; Elsea, Sarah H.; Bekheirnia, Mir Reza; Tessier, Mary Elizabeth M.; Kralik, Stephen F.; Rice, Gregory M.; Soler-Alfonso, Claudia; Scaglia, Fernando Journal: Journal of child neurology Issue: Volume 36:Number 10(2021) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017) Authors: Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So... Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4937 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Issue 10 (10th July 2019) Authors: Pillai, Nishitha R.; AlDhaheri, Noura S.; Ghosh, Rajarshi; Lim, Jaehyung; Streff, Haley; Nayak, Anuranjita; Graham, Brett H.; Hanchard, Neil A.; Elsea, Sarah H.; Scaglia, Fernando Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. Issue 5 (7th March 2019) Authors: Shayota, Brian J.; Soler‐Alfonso, Claudia; Bekheirnia, Mir Reza; Mizerik, Elizabeth; Boyer, Suzy W.; Xiao, Rui; Yang, Yaping; Elsea, Sarah H.; Scaglia, Fernando Journal: American journal of medical genetics Issue: Volume 179:Issue 5(2019) Page Start: 803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterization of the renal phenotype in RMND1‐related mitochondrial disease. Issue 12 (30th September 2019) Authors: Shayota, Brian J.; Le, Nhon T.; Bekheirnia, Nasim; Rosenfeld, Jill A.; Goldstein, Amy C.; Moritz, Michael; Bartholomew, Dennis W.; Pastore, Matthew T.; Xia, Fan; Eng, Christine; Yang, Yaping; Lamb, Dolores J.; Scaglia, Fernando; Braun, Michael C.; Bekheirnia, Mir Reza Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Issue 10 (16th August 2017) Authors: Leduc, Magalie S.; Chao, Hsiao‐Tuan; Qu, Chunjing; Walkiewicz, Magdalena; Xiao, Rui; Magoulas, Pilar; Pan, Shujuan; Beuten, Joke; He, Weimin; Bernstein, Jonathan A.; Schaaf, Christian P.; Scaglia, Fernando; Eng, Christine M.; Yang, Yaping Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2680 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Issue 1 (19th December 2021) Authors: Karaa, Amel; MacMullen, Laura E.; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas; Koga, Yasutoshi; Lamperti, Costanza; van Maanen, Rob; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip; Falk, Marni J. Journal: Advanced genetics Issue: Volume 3:Issue 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7—a review of eye anomalies in the linkeropathy syndromes. Issue 10 (20th June 2016) Authors: Arunrut, Teda; Sabbadini, Marta; Jain, Mahim; Machol, Keren; Scaglia, Fernando; Slavotinek, Anne Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". (10th June 2015) Authors: Ziats, Mark N.; Comeaux, Matthew S.; Yang, Yaping; Scaglia, Fernando; Elsea, Sarah H.; Sun, Qin; Beaudet, Arthur L.; Schaaf, Christian P. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2496 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗