1. Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. Issue 8 (17th June 2019) Authors: Carter, Lauren B.; Battaglia, Agatino; Cherry, Athena; Manning, Melanie A.; Ruzhnikov, Maura RZ; Bird, Lynne M.; Dowsett, Leah; Graham, John M.; Alkuraya, Fowzan S.; Hashem, Mais; Dinulos, Mary Beth; Vallee, Stephanie; Adam, Margaret P.; Glass, Ian; Beck, Anita E.; Stevens, Cathy A.; Zackai, Elai... Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Issue 2 (12th January 2012) Authors: Bachmann-Gagescu, Ruxandra; Ishak, Gisele E; Dempsey, Jennifer C; Adkins, Jonathan; O'Day, Diana; Phelps, Ian G; Gunay-Aygun, Meral; Kline, Antonie D; Szczaluba, Krzysztof; Martorell, Loreto; Alswaid, Abdulrahman; Alrasheed, Shatha; Pai, Shashidhar; Izatt, Louise; Ronan, Anne; Parisi, Melissa A; ... Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. EPCO-26. INTEGRATIVE MULTI-OMICS IDENTIFIES CONVERGING DEVELOPMENTAL ORIGINS OF DISTINCT MEDULLOBLASTOMA SUBGROUPS. (12th November 2021) Authors: Smith, Kyle; Bihannic, Laure; Gudenas, Brian; Gao, Qingsong; Haldipur, Parthiv; Hovestadt, Volker; Iskusnykh, Igor; Chizhikov, Viktor; Deng, Mei; Glass, Ian; Robinson, Giles; Orr, Brent; Patay, Zoltan; Aldinger, Kimberly; Millen, Kathleen; Northcott, Paul Journal: Neuro-oncology Issue: Volume 23: Supplement 6(2021) Page Start: vi7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The Cape Observatory at 200. Issue 5 (1st October 2020) Authors: Glass, Ian Journal: Astronomy and geophysics Issue: Volume 61:Issue 5(2020) Page Start: 5.34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MEDB-78. Unified rhombic lip origins of Group 3 and Group 4 medulloblastoma. (3rd June 2022) Authors: Smith, Kyle; Bihannic, Laure; Gudenas, Brian; Gao, Qingsong; Haldipur, Parthiv; Tao, Ran; Iskusnykh, Igor; Chizhikov, Viktor; Scoggins, Matthew; Zhang, Silu; Edwards, Angela; Deng, Mei; Glass, Ian; Overman, Lynne; Millman, Jake; Sjoboen, Alexandria; Hadley, Jennifer; Mankad, Kshitij; Onar-Thomas,... Journal: Neuro-oncology Issue: Volume 24(2022)Supplement 1 Page Start: i124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome. Issue 10 (6th July 2007) Authors: Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm Journal: Journal of medical genetics Issue: Volume 44:Issue 10(2007) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013) Authors: Handley, Mark T.; Morris‐Rosendahl, Deborah J.; Brown, Stephen; Macdonald, Fiona; Hardy, Carol; Bem, Danai; Carpanini, Sarah M.; Borck, Guntram; Martorell, Loreto; Izzi, Claudia; Faravelli, Francesca; Accorsi, Patrizia; Pinelli, Lorenzo; Basel‐Vanagaite, Lina; Peretz, Gabriela; Abdel‐Salam, Ghada... Journal: Human mutation Issue: Volume 34:Issue 5(2013:May) Page Start: 686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗