1. 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) ↗
2. 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) ↗
3. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Issue 19 (2nd March 2022) Authors: Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C; Kanca, Oguz; Rapp, Michele; Fock, Johanna M; Kamsteeg, Erik-Jan; Lupski, James R; Larson, Austin; Haninbal, Mark C; Bellen, Hugo; Harel, Tamar Journal: Human molecular genetics Issue: Volume 31:Issue 19(2022) Page Start: 3231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing. Issue 4 (18th January 2023) Authors: Wigby, Kristen; Hammer, Monia; Tokita, Mari; Patel, Priyanka; Jones, Marilyn C.; Larson, Austin; Bartolomei, Frances Velez; Dykzeul, Natalie; Slavotinek, Anne; Yip, Tiffany; Bandres‐Ciga, Sara; Simpson, Brittany N.; Suhrie, Kristen; Shankar, Suma; Veith, Regan; Bragg, Jennifer; Powell, Cynthia; K... Journal: American journal of medical genetics Issue: Volume 191:Issue 4(2023) Page Start: 930 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. (April 2020) Authors: Barca, Emanuele; Long, Yuelin; Cooley, Victoria; Schoenaker, Robert; Emmanuele, Valentina; DiMauro, Salvatore; Cohen, Bruce H.; Karaa, Amel; Vladutiu, Georgirene D.; Haas, Richard; Van Hove, Johan L.K.; Scaglia, Fernando; Parikh, Sumit; Bedoyan, Jirair K.; DeBrosse, Susanne D.; Gavrilova, Ralitza... Journal: Neurology Issue: Volume 6:Number 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example. (19th February 2023) Authors: Micke, Kestutis C.; Elfman, Hannah M.; Fantauzzo, Katherine A.; McGrath, Patrick S.; Clouthier, David E.; McCandless, Shawn E.; Larson, Austin; Putra, Manesha; Cuneo, Bettina F.; Reynolds, Regina M.; Zaretsky, Michael V. Journal: Prenatal diagnosis Issue: Volume 43:Number 4(2023) Page Start: 544 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. (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) ↗
9. 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) ↗
10. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Issue 3 (19th December 2019) Authors: Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; J... Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 641 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗