Miguel Barroso‐Gil

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Brooke Latour, Julie C. Van De Weghe, Tamara D. S. Rusterholz et al. · Journal of Clinical Investigation · 2020 · 88 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

Hugo Lemoine, Loann Raud, François Foulquier et al. · The American Journal of Human Genetics · 2022 · 71 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

Vinh Toan Huynh, Marie‐Pierre Audrézet, John A. Sayer et al. · Kidney International · 2020 · 69 citations · Full text

Medicine, Molecular Genetics, Nephrology +8

Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

María Teruel, Guillermo Barturen, Manuel Martínez‐Bueno et al. · Scientific Reports · 2021 · 33 citations · Full text

Life Sciences, Genetics, Immunology +17

A discarded synonymous variant in <i>NPHP3</i> explains nephronophthisis and congenital hepatic fibrosis in several families

Eric Olinger, Intisar Al Alawi, Mohammed S. Al Riyami et al. · Human Mutation · 2021 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17