Journal of Medical Genetics: 61 (4)

Position statement

Next generation of free? Points to consider when navigating sponsored genetic testing (6 November, 2023)
Kirsten Bartels, Samantha Afonso, Lindsay Brown, Claudia Carriles, Raymond Kim, Joanna Lazier, Saadet Mercimek-Andrews, Tanya N Nelson, Ian Stedman, Emily Thain, Rachel Vanneste, Lauren Chad

Original research: Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey (22 December, 2023)
Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George J Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Clare Turnbull

Original research:
De novo variants in KCNJ3 are associated with early-onset epilepsy
(14 November, 2023)
Juan Li, Shiyue Mei, Xiao Mao, Lily Wan, Hua Wang, Bo Xiao, Yanmin Song, Weiyue Gu, Yan Liu, Lili Long
Original research:
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
(27 October, 2023)
Ling Xu, Yaru Wang, Wenqing Wang, Rui Zhang, Dandan Zhao, Yan Yun, Fuchen Liu, Yuying Zhao, Chuanzhu Yan, Pengfei Lin
Original research:
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation
(21 November, 2023)
Diego Lopergolo, Silvia Bianchi, Gian Nicola Gallus, Sara Locci, Barbara Pucci, Valerio Leoni, Daniele Gasparini, Elisa Tardelli, Andrea Chincarini, Stelvio Sestini, Filippo Maria Santorelli, Henrik Zetterberg, Nicola De Stefano, Andrea Mignarri
Original research:
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy
(3 November, 2023)
Xinyu Gu, Jiaxi Yu, Kexin Jiao, Jianwen Deng, Xingyu Xia, Kai Qiao, Dongyue Yue, Mingshi Gao, Chongbo Zhao, Jihong Dong, Gongchun Huang, Jingli Shan, Chuanzhu Yan, Li Di, Yuwei Da, Wenhua Zhu, Jianying Xi, Zhaoxia Wang

Original research:
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
(18 November, 2023)
Ummey Hany, Christopher M Watson, Lu Liu, Claire E L Smith, Asmaa Harfoush, James A Poulter, Georgios Nikolopoulos, Richard Balmer, Catriona J Brown, Anesha Patel, Jenny Simmonds, Ruth Charlton, María Gabriela Acosta de Camargo, Helen D Rodd, Hussain Jafri, Agne Antanaviciute, Michelle Moffat, Maisoon Al-Jawad, Chris F Inglehearn, Alan J Mighell
Original research: Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study (29 November, 2023)
Alayne P Meyer, Cara L Barnett, Katherine Myers, Carly E Siskind, Tia Moscarello, Rachel Logan, Jennifer Roggenbuck, Kelly A Rich
Short report:
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
(30 January, 2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys

Original research: Titin copy number variations associated with dominant inherited phenotypes (7 November, 2023)
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A Genetti, Minttu Marttila, Michel Koenig, Alan H Beggs, Bjarne Udd, Gisèle Bonne, Mireille Cossée

Original research: Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries (18 November, 2023)
Gregory Mougel, Amira Mohamed, Nelly Burnichon, Sophie Giraud, Pascal Pigny, Brigitte Bressac-de Paillerets, Delphine Mirebeau-Prunier, Alexandre Buffet, Frédérique Savagner, Pauline Romanet, Yannick Arlot, Betty Gardie, Anne-Paule Gimenez-Roqueplo, Christophe Beroud, Stephane Richard, Anne Barlier
Original research:
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400
(16 December, 2023)
Emma R Woodward, Fiona Lalloo, Claire Forde, Sarah Pugh, George J Burghel, Helene Schlecht, Elaine F Harkness, Anthony Howell, Sacha J Howell, Ashu Gandhi, D Gareth Evans
Original research:
Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSO
(16 December, 2023)
Akiko Abe, Hidetaka Nomura, Atsushi Fusegi, Mayu Yunokawa, Arisa Ueki, Eri Habano, Hiromi Arakawa, Keika Kaneko, Yuko Minoura, Hitoshi Inari, Takayuki Ueno, Hiroyuki Kanao

Original research: Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals (16 December, 2023)
Saskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, Tamara Rybak, Floor Wildschut, Dagmar Berghuis, Angela Morgan, Maria Pilar Trelles, Jeroen Ronald Scheepe, Regina Bökenkamp, Cacha M P C D Peeters-Scholte, Ruth Braden, Gijs W E Santen
Short report:
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
(27 November, 2023)
Jack Gibb, Elizabeth Wall, Ella Fields, Anna Seale, Catherine Armstrong, Andrew Bamber, Piers Daubeney, Makaela Jacobs-Pearson, Tamas Marton, Karen Stals, Karen Low, Juan Pablo Kaski, Georgia Spentzou