Phenotype

Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype
Emilia Ip, Catriona McNeil, Peter Grimison, Tahlia Scheinberg, Emma Tudini, Gladys Ho, Rodney J Scott, Christina Brown, Charbel Sandroussi, Pascale Guitera, Amanda B Spurdle, Annabel Goodwin

Journal of Medical Genetics Oct 2021, jmedgenet-2021-108072; DOI: 10.1136/jmedgenet-2021-108072
Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort
Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais

Journal of Medical Genetics Oct 2021, 58 (10) 692-700; DOI: 10.1136/jmedgenet-2020-107162
Determinants of quality of life in Rett syndrome: new findings on associations with genotype
Jonathan Mendoza, Jenny Downs, Kingsley Wong, Helen Leonard

Journal of Medical Genetics Sep 2021, 58 (9) 637-644; DOI: 10.1136/jmedgenet-2020-107120
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
Mirta Basha, Bénédicte Demeer, Nicole Revencu, Raphael Helaers, Stephanie Theys, Sami Bou Saba, Odile Boute, Bernard Devauchelle, Geneviève Francois, Bénédicte Bayet, Miikka Vikkula

Journal of Medical Genetics Jul 2018, 55 (7) 449-458; DOI: 10.1136/jmedgenet-2017-105110
Genetic Severity Score predicts clinical phenotype in NF2
Dorothy Halliday, Beatrice Emmanouil, Pieter Pretorius, Samuel MacKeith, Sally Painter, Helen Tomkins, D Gareth Evans, Allyson Parry

Journal of Medical Genetics Oct 2017, 54 (10) 657-664; DOI: 10.1136/jmedgenet-2017-104519
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Bouwien E Smid, Linda van der Tol, Marieke Biegstraaten, Gabor E Linthorst, Carla E M Hollak, Ben J H M Poorthuis

Journal of Medical Genetics Apr 2015, 52 (4) 262-268; DOI: 10.1136/jmedgenet-2014-102872

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