1. Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease. (4th August 2021) Authors: Gill, Kamalvir; Sasaki, Jun; Jayakar, Parul; Sosa, Lisa; Welch, Elizabeth Journal: Cardiology in the young Issue: Volume 31:Number 8(2021) Page Start: 1275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene. (March 2022) Authors: Saini, Ashish; Almasarweh, Saleem; Acosta, Stephanie; Jayakar, Parul; Janvier, Michelin; Wong, Terence C.; Salyakina, Daria; Sasaki, Jun Journal: Progress in pediatric cardiology Issue: Volume 64(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022) Authors: Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability. Issue 6 (11th May 2021) Authors: Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Brösse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; ... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Issue 3 (26th January 2021) Authors: McGraw, Christopher M.; Mahida, Sonal; Jayakar, Parul; Koh, Hyun Yong; Taylor, Alan; Resnick, Trevor; Rodan, Lance; Schwartz, Marc A.; Ejaz, Ayesha; Sankaran, Vijay G.; Berry, Gerard; Poduri, Annapurna Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 3(2021) Page Start: 716 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Issue 5 (8th November 2018) Authors: Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky‐Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; M... Journal: Annals of neurology Issue: Volume 84:Issue 5(2018) Page Start: 766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗