1. An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX. Issue 5 (15th February 2017) Authors: Mattiske, Tessa; Moey, Ching; Vissers, Lisenka E.; Thorne, Natalie; Georgeson, Peter; Bakshi, Madhura; Shoubridge, Cheryl Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Issue 8 (2nd June 2020) Authors: Thai, Monica H. N.; Gardner, Alison; Redpath, Laura; Mattiske, Tessa; Dearsley, Oliver; Shaw, Marie; Vulto‐van Silfhout, Anneke T.; Pfundt, Rolph; Dixon, Joanne; McGaughran, Julie; Pérez‐Jurado, Luis A.; Gécz, Jozef; Shoubridge, Cheryl Journal: Human mutation Issue: Volume 41:Issue 8(2020) Page Start: 1407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. (30th March 2021) Authors: Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uirá Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; S... Journal: Neurology Issue: Volume 96:Number 13(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene. (25th October 2016) Authors: Mattiske, Tessa; Lee, Kristie; Gecz, Jozef; Friocourt, Gaelle; Shoubridge, Cheryl Journal: Human molecular genetics Issue: Volume 25:Number 24(2016:Dec. 15) Page Start: 5433 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. (6th November 2019) Authors: Poeta, Loredana; Padula, Agnese; Attianese, Benedetta; Valentino, Mariaelena; Verrillo, Lucia; Filosa, Stefania; Shoubridge, Cheryl; Barra, Adriano; Schwartz, Charles E; Christensen, Jesper; van Bokhoven, Hans; Helin, Kristian; Lioi, Maria Brigida; Collombat, Patrick; Gecz, Jozef; Altucci, Lucia;... Journal: Human molecular genetics Issue: Volume 28:Number 24(2019) Page Start: 4089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy. Issue 1 (8th November 2018) Authors: Shoubridge, Cheryl; Harvey, Robert J.; Dudding‐Byth, Tracy Journal: Human mutation Issue: Volume 40:Issue 1(2019) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain. Issue 1 (6th April 2022) Authors: Shoubridge, Cheryl; Dudding‐Byth, Tracy; Pasquier, Laurent; Goel, Himanshu; Yap, Patrick; McConnell, Vivienne Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation. (December 2017) Authors: Buckberry, Sam; Bianco-Miotto, Tina; Bent, Stephen; Clifton, Vicki; Shoubridge, Cheryl; Shankar, Kartik; Roberts, Claire Journal: BMC genomics Issue: Volume 18:Number 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. Issue 8 (30th May 2019) Authors: Shoubridge, Cheryl; Jackson, Matilda; Grinton, Bronwyn; Berkovic, Samuel F.; Scheffer, Ingrid E.; Huskins, Shannon; Thomas, Alison; Ware, Tyson Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The molecular and phenotypic spectrum of IQSEC2‐related epilepsy. (26th September 2016) Authors: Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D.; Kossoff, Eric H.; Willems, Marjolaine; Geneviève, David; Tran‐Mau‐Them, Frederic; Epstein, O... Journal: Epilepsia Issue: Volume 57:issue 11(2016) Page Start: 1858 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗