1. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium. Issue 1 (13th November 2013) Authors: Thomas, Sophie; Wright, Kevin J.; Corre, Stéphanie Le; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean‐Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, S... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A newly discovered mechanism driving neuronal mutations in Alzheimer's disease. (29th November 2018) Authors: Chai, Guoliang; Gleeson, Joseph G. Journal: Nature Issue: Volume 563:Number 7733(2018) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020) Authors: Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations. Issue 4 (11th January 2019) Authors: Mahmoud, Iman G.; Elmonem, Mohamed A.; Elkhateeb, Nour M.; Elnaggar, Walaa; Sobhi, Ahmed; Girgis, Marian Y.; Kamel, Mona; Shaheen, Yara; Samaha, Mona; Ramadan, Areef; Zaki, Maha S.; El‐Hawary, Bahaa; Hassan, Sawsan A.; Khalifa, Iman A.; Mossad, Fawzya; Al‐Menabawy, Nihal M.; Zielke, Susanne; Glee... Journal: Clinical genetics Issue: Volume 95:Issue 4(2019) Page Start: 537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Closing in on Mechanisms of Open Neural Tube Defects. Issue 7 (July 2020) Authors: Lee, Sangmoon; Gleeson, Joseph G. Journal: Trends in neurosciences Issue: Volume 43:Issue 7(2020) Page Start: 519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dandy–Walker malformation, genitourinary abnormalities, and intellectual disability in two families. (24th June 2015) Authors: Zaki, Maha S.; Masri, Amira; Gregor, Anne; Gleeson, Joseph G.; Rosti, Rasim Ozgur Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2503 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. DCLK1 phosphorylates the microtubule‐associated protein MAP7D1 to promote axon elongation in cortical neurons. Issue 4 (24th November 2016) Authors: Koizumi, Hiroyuki; Fujioka, Hiromi; Togashi, Kazuya; Thompson, James; Yates, John R.; Gleeson, Joseph G.; Emoto, Kazuo Journal: Developmental neurobiology Issue: Volume 77:Issue 4(2017) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018) Authors: Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ... Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Issue 7 (23rd May 2013) Authors: Paciorkowski, Alex R.; Keppler‐Noreuil, Kim; Robinson, Luther; Sullivan, Christopher; Sajan, Samin; Christian, Susan L.; Bukshpun, Polina; Gabriel, Stacy B.; Gleeson, Joseph G.; Sherr, Elliott H.; Dobyns, William B. Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗