1. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. (4th August 2015) Authors: Imitola, Jaime; Khurana, Divya S.; Teplyuk, Nadiya M.; Zucker, Mark; Jethva, Reena; Legido, Agustin; Krichevsky, Ana M.; Frangieh, Michael; Walsh, Christopher A.; Carvalho, Karen S. Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection. Issue 8 (24th July 2022) Authors: Thomas, Ajay X.; Link, Nichole; Robak, Laurie A.; Demmler‐Harrison, Gail; Pao, Emily C.; Squire, Audrey E.; Michels, Savannah; Cohen, Julie S.; Comi, Anne; Prontera, Paolo; Verrotti di Pianella, Alberto; Di Cara, Giuseppe; Garavelli, Livia; Caraffi, Stefano Giuseppe; Fusco, Carlo; Zuntini, Robert... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 8(2022) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Application of single cell genomics to focal epilepsies: A call to action. (1st July 2021) Authors: Khoshkhoo, Sattar; Lal, Dennis; Walsh, Christopher A. Journal: Brain pathology Issue: Volume 31:Number 4(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. (29th January 2016) Authors: Oaks, Adam W.; Zamarbide, Marta; Tambunan, Dimira E.; Santini, Emanuela; Di Costanzo, Stefania; Pond, Heather L.; Johnson, Mark W.; Lin, Jeff; Gonzalez, Dilenny M.; Boehler, Jessica F.; Wu, Guangying K.; Klann, Eric; Walsh, Christopher A.; Manzini, M. Chiara Journal: Cerebral cortex Issue: Volume 27:Number 2(2017) Page Start: 1670 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 176A, Number 2, February 2018. Issue 2 (15th January 2018) Authors: Chen, Ming Hui; Choudhury, Sangita; Hirata, Mami; Khalsa, Siri; Chang, Bernard; Walsh, Christopher A. Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cover Image, Volume 39, Issue 1. Issue 1 (7th December 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Issue 1 (11th November 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021) Authors: Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts. Issue 3 (18th February 2013) Authors: Akawi, Nadia A.; Canpolat, Fuat E.; White, Susan M.; Quilis‐Esquerra, Josep; Morales Sanchez, Martin; Gamundi, Maria José; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Ali, Bassam R.; Al‐Gazali, Lihadh Journal: Human mutation Issue: Volume 34:Issue 3(2013:Mar.) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. DNA Adductomics by mass tag prelabeling. (5th May 2021) Authors: Wang, Poguang; Roider, Elisabeth; Coulter, Michael E.; Walsh, Christopher A.; Kramer, Caitlin S.; Beuning, Penny J.; Giese, Roger W. Journal: Rapid communications in mass spectrometry Issue: Volume 35:Number 13(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗