1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018) Authors: Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 5α‐Reductase type 2 deficiency in families from an isolated Andean population in Venezuela. (15th October 2019) Authors: Avendaño, Andrea; González‐Coira, Mercedes; Paradisi, Irene; Rojas, Ascanio; Da Silva, Gloria; Gómez‐Pérez, Roald; Ceballos, Jesús Osuna Journal: Annals of human genetics Issue: Volume 84:Number 2(2020:Mar.) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A 3′ untranslated region polymorphism rs2304277 in the DNA repair pathway gene OGG1 is a novel risk modulator for urothelial bladder carcinoma. (15th November 2017) Authors: Ahmed, Tayyaba; Nawaz, Saira; Noreen, Rabia; Bangash, Kashif Sardar; Rauf, Abdur; Younis, Muhammad; Anwar, Khursheed; Khawaja, Muhammad Athar; Azam, Maleeha; Qureshi, Abid Ali; Akhter, Saeed; Kiemeney, Lambertus A.; Qamar, Raheel; Ali, Syeda Hafiza benish Journal: Annals of human genetics Issue: Volume 82:Number 2(2018:Mar.) Page Start: 74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A. (15th January 2015) Authors: Meshcheryakova, Tatiana I.; Zinchenko, Rena A.; Vasilyeva, Tatiana A.; Marakhonov, Andrey V.; Zhylina, Svetlana S.; Petrova, Nika V.; Kozhanova, Tatiana V.; Belenikin, Maxim S.; Petrin, Alexander N.; Mutovin, Gennady R. Journal: Annals of human genetics Issue: Volume 79:Number 2(2015:Mar.) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. Issue 2 (February 2018) Authors: Borges-Medeiros, Rayssa; Mendes de Oliveira, João Journal: Journal of human genetics Issue: Volume 63:Issue 2(2018) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop. Issue 11 (November 2018) Authors: Yamamoto, Kayono; Shimizu, Atsushi; Aizawa, Fumie; Kawame, Hiroshi; Tokutomi, Tomoharu; Fukushima, Akimune Journal: Journal of human genetics Issue: Volume 63:Issue 11(2018) Page Start: 1139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A Comparison of the Likelihood Ratio Test and the Variance‐Stabilising Transformation‐Based Tests for Detecting Association of Rare Variants. (14th March 2013) Authors: Xing, Guan; Ku, Hung‐Chih; Xing, Chao Journal: Annals of human genetics Issue: Volume 77:Number 4(2013:Jul.) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7‐CAG Expansion Loci in the Indian and Mexican Population. (9th June 2017) Authors: Faruq, Mohammed; Magaña, Jonathan J.; Suroliya, Varun; Narang, Ankita; Murillo‐Melo, Nadia M.; Hernández‐Hernández, Oscar; Srivastava, Achal K.; Mukerji, Mitali Journal: Annals of human genetics Issue: Volume 81:Number 5(2017:Sep.) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. (December 2018) Authors: Ainscough, Benjamin; Barnell, Erica; Ronning, Peter; Campbell, Katie; Wagner, Alex; Fehniger, Todd; Dunn, Gavin; Uppaluri, Ravindra; Govindan, Ramaswamy; Rohan, Thomas; Griffith, Malachi; Mardis, Elaine; Swamidass, S.; Griffith, Obi Journal: Nature genetics Issue: Volume 50:Number 12(2018) Page Start: 1735 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss. (10th February 2014) Authors: Nishio, Ayako; Noguchi, Yoshihiro; Sato, Tatsuya; Naruse, Taeko K.; Kimura, Akinori; Takagi, Akira; Kitamura, Ken Journal: Annals of human genetics Issue: Volume 78:Number 2(2014:Mar.) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗