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JAMA Ophthalmology|July 9, 2016
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal DysfunctionSarah Hull, Aeesha N J Malik, Gavin Arno, et al.
Human Mutation|April 27, 2022
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosisHtoo A Wai, Matthew Constable, Cosima Drewes, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctataMichelle Nino, Claudia Matos-Miranda, Momoe Maeda, et al.
American Journal of Ophthalmology|May 12, 2019
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With MicrocephalySarah Hull, Gavin Arno, Pia Ostergaard, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Traffic (Copenhagen, Denmark)|April 14, 2017
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion diseaseGeorg F Vogel, Andreas R Janecke, Iris M Krainer, et al.
European Journal of Immunology|May 26, 2025
Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon SignallingNic Robertson, Aakash Joshi, Francesca Ritchie, et al.
European Journal of Medical Genetics|October 15, 2022
Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)Nele Devoogdt, Malou Van Zanten, Robert Damstra, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
Nature Communications|September 4, 2015
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
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