Journal of Medical Genetics: 58 (4)

Screening

Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors (29 January, 2021)
Mikey B Lebrett, Emma J Crosbie, Miriam J Smith, Emma R Woodward, D Gareth Evans, Philip A J Crosbie

Original research: Sporadic vestibular schwannoma: a molecular testing summary (23 June, 2020)
Katherine V Sadler, Naomi L Bowers, Claire Hartley, Philip T Smith, Simon Tobi, Andrew J Wallace, Andrew King, Simon K W Lloyd, Scott Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon Freeman, Emma Stapleton, Amy Taylor, Adam Shaw, Dorothy Halliday, Miriam Jane Smith, D Gareth Evans
Communication:
Loss-of-function variants in POT1 predispose to uveal melanoma
(9 September, 2020)
Vaishnavi Nathan, Jane M Palmer, Peter A Johansson, Hayley R Hamilton, Sunil K Warrier, William Glasson, Lindsay A McGrath, Vivian F S Kahl, Raja S Vasireddy, Hilda A Pickett, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward

Original research:
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
(21 May, 2020)
Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz, Ashleigh Schaffer

Original research: TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents (2 June, 2020)
Julien H Park, Jiraporn Ousingsawat, Inês Cabrita, Ruth E Bettels, Jörg Große-Onnebrink, Christian Schmalstieg, Saskia Biskup, Janine Reunert, Stephan Rust, Rainer Schreiber, Karl Kunzelmann, Thorsten Marquardt

Original research:
Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis
(11 June, 2020)
Ohad Wormser, Ygal Levy, Anna Bakhrat, Silvia Bonaccorsi, Lucia Graziadio, Maurizio Gatti, Ali AbuMadighem, Richard J McKenney, Kyoko Okada, Saad El Riati, Iris Har-Vardi, Mahmoud Huleihel, Eliahu Levitas, Ohad S Birk, Uri Abdu

Original research:
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
(1 June, 2020)
Kasper A Overbeek, Mar DM Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C van den Akker, Jan C Oosterwijk, Theo A van Os, Lizet E van der Kolk, Hans F A Vasen, Frederik J Hes, Djuna L Cahen, Marco J Bruno, Thomas P Potjer
Short report:
Analysis of genotype–phenotype correlations in PAX6-associated aniridia
(28 May, 2020)
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Barbara Käsmann-Kellner, Natella V. Sukhanova, Lyudmila A. Katargina, Sergey I. Kutsev, Rena A. Zinchenko

Original research: Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study (24 June, 2020)
Salma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Conxi Lázaro, Jessica Gu, Jamie Goltz, Dakota Kleinman, Abdul Noor, Sam Khalouei, Chloe Mighton, Emma Reble, Rita Kodida, Yvonne Bombard, Stephanie DiTroia, Samantha Baxter, Nicholas Watkins, Melanie Care, Arnon Adler, Sheri Horsburgh, Oana Morar, Jillian Murphy, Dayna-Lynn Nevay, Marta Szybowska, Melyssa Aronson, Seema Panchal, Ruth Godoy, Spring Holter, Susan Randall Armel, Kara Semotiuk, Christine Elser, Raymond H Kim, David Chitayat, Joyce So, Hanna Faghfoury, Josh Silver, Chantal F Morel, Jordan Lerner-Ellis
Short report: Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients (6 May, 2020)
Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, Michael Levy, Lauren I Brady, Mark Tarnopolsky, Hanxin Lin, Peter Ainsworth, Bekim Sadikovic