Showing the latest 232 publications
Publications 21-30 of 232
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Cif, L., Demailly, D., Lin, J., Barwick, K., Sa, M., Abela, L., et al.
Brain: A Journal of Neurology
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'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
Swietlik, E., Prapa, M., Martin, J., Pandya, D., Auckland, K., Morrell, N., et al.
Genes
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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
Rodger, C., Flex, E., Allison, R., Sanchis-Juan, A., Hasenahuer, M., Cecchetti, S., et al.
American Journal of Human Genetics
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Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Ulrich, A., Otero-Núñez, P., Wharton, J., Swietlik, E., Gräf, S., Morrell, N., et al.
Genes
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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
Bertrand, R., Wang, J., Xiong, K., Thangavel, C., Qian, X., Ba-Abbad, R., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
de Bruijn, S., Fiorentino, A., Ottaviani, D., Fanucchi, S., Melo, U., Corral-Serrano, J., et al.
American Journal of Human Genetics
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Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn's disease: long-term outcomes for 11 928 patients in the UK inflammatory bowel disease bioresource
Stournaras, E., Qian, W., Pappas, A., Hong, Y., Shawky, R., et al.
Gut
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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees
Sprenkeler, E., Tool, A., Kreft, I., van Alphen, F., Seneviratne, S., et al.
British Journal of Haematology
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Combined Point-of-Care Nucleic Acid and Antibody Testing for SARS-CoV-2 following Emergence of D614G Spike Variant
Mlcochova, P., Collier, D., Ritchie, A., Assennato, S., Hosmillo, M., Goel, N., et al.
Cell Reports. Medicine
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The Polygenic and Monogenic Basis of Blood Traits and Diseases
Vuckovic, D., Bao, E., Akbari, P., Lareau, C., Mousas, A., Jiang, T., et al.
Cell