1. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Issue 6 (11th May 2021) Authors: Cappuccio, Gerarda; Ceccatelli Berti, Camilla; Baruffini, Enrico; Sullivan, Jennifer; Shashi, Vandana; Jewett, Tamison; Stamper, Tara; Maitz, Silvia; Canonico, Francesco; Revah‐Politi, Anya; Kupchik, Gabriel S.; Anyane‐Yeboa, Kwame; Aggarwal, Vimla; Benneche, Andreas; Bratland, Eirik; Berland, Si... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Casual Genetic Variants in Stillbirth. Issue 2 (February 2021) Authors: Stanley, Kate E.; Giordano, Jessica; Thorsten, Vanessa; Buchovecky, Christie; Thomas, Amanda; Ganapathi, Mythily; Liao, Jun; Dharmadhikari, Avinash V.; Revah-Politi, Anya; Ernst, Michelle; Lippa, Natalie; Holmes, Halie; Povysil, Gundula; Hostyk, Joseph; Parker, Corette B.; Goldenberg, Robert; Saa... Journal: Obstetrical & gynecological survey Issue: Volume 76:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Fetal central nervous system anomalies: When should we offer exome sequencing?. (20th April 2022) Authors: Baptiste, Caitlin; Mellis, Rhiannon; Aggarwal, Vimla; Lord, Jenny; Eberhardt, Ruth; Kilby, Mark D.; Maher, Eamonn R.; Wapner, Ronald; Giordano, Jessica; Chitty, Lyn Other Names: Van den Veyver Igna guestEditor. Journal: Prenatal diagnosis Issue: Volume 42:Number 6(2022) Page Start: 736 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impact of pre‐emptive rapid testing for glucose‐6‐phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study. Issue 9 (2nd May 2022) Authors: Ganapathi, Mythily; Campbell, Peter; Ofori, Kenneth; Aggarwal, Vimla; Francis, Richard O.; Kratz, Alexander Journal: British journal of clinical pharmacology Issue: Volume 88:Issue 9(2022) Page Start: 4163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. (7th February 2023) Authors: Happ, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S.; Fenger, Christina D.; Klint Nielsen, J... Journal: Neurology Issue: Volume 100:Number 6(2023) Page Start: e603 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot. Issue 2 (5th December 2013) Authors: Vanzo, Rena J.; Martin, Megan M.; Sdano, Mallory R.; Teta, Kathie; Aggarwal, Vimla; South, Sarah T. Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Issue 10173 (23rd February 2019) Authors: Petrovski, Slavé; Aggarwal, Vimla; Giordano, Jessica L; Stosic, Melissa; Wou, Karen; Bier, Louise; Spiegel, Erica; Brennan, Kelly; Stong, Nicholas; Jobanputra, Vaidehi; Ren, Zhong; Zhu, Xiaolin; Mebane, Caroline; Nahum, Odelia; Wang, Quanli; Kamalakaran, Sitharthan; Malone, Colin; Anyane-Yeboa, K... Journal: Lancet Issue: Volume 393:Issue 10173(2019) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. Issue 12 (31st July 2021) Authors: Kushary, Sulagna Tina; Revah‐Politi, Anya; Barua, Subit; Ganapathi, Mythily; Accogli, Andrea; Aggarwal, Vimla; Brunetti‐Pierri, Nicola; Cappuccio, Gerarda; Capra, Valeria; Fagerberg, Christina R.; Gazdagh, Gabriella; Guzman, Edwin; Hadonou, Medard; Harrison, Victoria; Havelund, Kathrine; Iancu, D... Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗