1. A family study implicates GBE1 in the etiology of autism spectrum disorder. Issue 1 (21st October 2021) Authors: Fanjul‐Fernández, Miriam; Brown, Natasha J.; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C.; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S.; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P.; Eichler, Evan E.; Del... Journal: Human mutation Issue: Volume 43:Issue 1(2022) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. Issue 2 (19th December 2016) Authors: Riley, Lisa G.; Cowley, Mark J.; Gayevskiy, Velimir; Roscioli, Tony; Thorburn, David R.; Prelog, Kristina; Bahlo, Melanie; Sue, Carolyn M.; Balasubramaniam, Shanti; Christodoulou, John Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 2(2017) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An α‐E‐catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. Issue 4 (15th February 2013) Authors: Majewski, Ian J; Kluijt, Irma; Cats, Annemieke; Scerri, Thomas S; de, Daphne; Kluin, Roelof JC; Hansford, Samantha; Hogervorst, Frans BL; Bosma, Astrid J; Hofland, Ingrid; Winter, Marcel; Huntsman, David; Jonkers, Jos; Bahlo, Melanie; Bernards, René Journal: Journal of pathology Issue: Volume 229:Issue 4(2013) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. (4th May 2021) Authors: Heron, Sarah E.; Regan, Brigid M.; Harris, Rebekah V.; Gardner, Alison E.; Coleman, Matthew J.; Bennett, Mark F.; Grinton, Bronwyn E.; Helbig, Katherine L.; Sperling, Michael R.; Haut, Sheryl; Geller, Eric B.; Widdess-Walsh, Peter; Pelekanos, James T.; Bahlo, Melanie; Petrovski, Slavé; Heinzen, E... Journal: Neurology Issue: Volume 96:Number 18(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Candidate disease gene prediction using Gentrepid: application to a genome‐wide association study on coronary artery disease. Issue 1 (13th November 2013) Authors: Ballouz, Sara; Liu, Jason Y.; Oti, Martin; Gaeta, Bruno; Fatkin, Diane; Bahlo, Melanie; Wouters, Merridee A. Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 1(2014:Jan.) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. Issue 1 (28th January 2021) Authors: Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara; Harvey, A Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander; Sc... Journal: Brain communications Issue: Volume 3:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Challenges of diagnostic exome sequencing in an inbred founder population. Issue 2 (22nd April 2013) Authors: Azmanov, Dimitar N.; Chamova, Teodora; Tankard, Rick; Gelev, Vladimir; Bynevelt, Michael; Florez, Laura; Tzoneva, Dochka; Zlatareva, Dora; Guergueltcheva, Velina; Bahlo, Melanie; Tournev, Ivailo; Kalaydjieva, Luba Journal: Molecular genetics & genomic medicine Issue: Volume 1:Issue 2(2013:Jul.) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical impact of whole-genome sequencing in patients with early-onset dementia. Issue 11 (29th July 2022) Authors: Huq, Aamira J; Thompson, Bryony; Bennett, Mark F; Bournazos, Adam; Bommireddipalli, Shobhana; Gorelik, Alexandra; Schultz, Joshua; Sexton, Adrienne; Purvis, Rebecca; West, Kirsty; Cotter, Megan; Valente, Giulia; Hughes, Andrew; Riaz, Moeen; Walsh, Maie; Farrand, Sarah; Loi, Samantha M; Kilpatrick... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 11(2022) Page Start: 1181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. (24th November 2020) Authors: Gisatulin, Maria; Dobricic, Valerija; Zühlke, Christine; Hellenbroich, Yorck; Tadic, Vera; Münchau, Alexander; Isenhardt, Klaus; Bürk, Katrin; Bahlo, Melanie; Lockhart, Paul J.; Lohmann, Katja; Helmchen, Christoph; Brüggemann, Norbert Journal: Neurology Issue: Volume 95:Number 21(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Comparative genomics revealed adaptive admixture in Cryptosporidium hominis in Africa. Issue 1 (23rd January 2021) Authors: Tichkule, Swapnil; Jex, Aaron R.; van Oosterhout, Cock; Sannella, Anna Rosa; Krumkamp, Ralf; Aldrich, Cassandra; Maiga-Ascofare, Oumou; Dekker, Denise; Lamshöft, Maike; Mbwana, Joyce; Rakotozandrindrainy, Njari; Borrmann, Steffen; Thye, Thorsten; Schuldt, Kathrin; Winter, Doris; Kremsner, Peter G... Journal: Microbial genomics Issue: Volume 7:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗