1. IRF2BPL gene mutation: Expanding on neurologic phenotypes. Issue 11 (20th August 2019) Authors: Shelkowitz, Emily; Singh, Jasleen K.; Larson, Austin; Elias, Ellen R. Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency. (February 2020) Authors: Shelkowitz, Emily; Ficicioglu, Can; Stence, Nicholas; Van Hove, Johan; Larson, Austin Journal: Journal of child neurology Issue: Volume 35:Number 2(2020:Feb.) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Issue 5 (7th February 2020) Authors: Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D.; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Srour, Myriam; Sebire, Guill... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Tracheal and lower airway changes in a patient with mucolipidosis type II. Issue 7 (8th April 2020) Authors: Poore, Thomas S.; Prager, Jeremy; Weinman, Jason P.; Larson, Austin; Houin, Paul Journal: Pediatric pulmonology Issue: Volume 55:Issue 7(2020) Page Start: 1843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay. Issue 6 (27th February 2022) Authors: Gracie, Sara; Sengupta, Nivedita; Ferreira, Carlos; Pemberton, Joshua; Anderson, Ilse; Wang, Xin; Rhodes, Lindsay; Brown, Kathleen; Balla, Tamas; Larson, Austin Journal: American journal of medical genetics Issue: Volume 188:Issue 6(2022) Page Start: 1739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Issue 2 (11th December 2021) Authors: Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane‐Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos‐Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denommé‐Pichon, Anne‐Sophie; Emrick, Lisa; Fa... Journal: Human mutation Issue: Volume 43:Issue 2(2022) Page Start: 266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study. Issue 2 (25th April 2022) Authors: Jouret, Guillaume; Heide, Solveig; Sorlin, Arthur; Faivre, Laurence; Chantot‐Bastaraud, Sandra; Beneteau, Claire; Denis‐Musquer, Marie; Turnpenny, Peter D.; Coutton, Charles; Vieville, Gaëlle; Thevenon, Julien; Larson, Austin; Petit, Florence; Boudry, Elise; Smol, Thomas; Delobel, Bruno; Duban‐Be... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. Issue 5 (4th May 2020) Authors: Zhao, Piming; Liu, Isaac D.; Hodgin, Jeffrey B.; Benke, Peter I.; Selva, Jeremy; Torta, Federico; Wenk, Markus R.; Endrizzi, James A.; West, Olivia; Ou, Weixing; Tang, Emily; Goh, Denise Li‐Meng; Tay, Stacey Kiat‐Hong; Yap, Hui‐Kim; Loh, Alwin; Weaver, Nicole; Sullivan, Bonnie; Larson, Austin; Co... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 1131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗