Showing the latest 472 publications
Publications 321-330 of 472
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Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Gilly, A., Suveges, D., Kuchenbaecker, K., Pollard, M., Southam, L., Hatzikotoulas, K., et al.
Nature Communications
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GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting
Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., et al.
Blood
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig, K., Lauerer, R., Bahr, J., Souza, I., Myers, C., Uysal, B., et al.
American Journal of Human Genetics
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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Alston, C., Heidler, J., Dibley, M., Kremer, L., Taylor, L., Fratter, C., et al.
American Journal of Human Genetics
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, P., Lango Allen, H., Burns, S., Greene, D., Jansen, M., Staples, E., et al.
The Journal of Allergy and Clinical Immunology
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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
Ba-Abbad, R., Leys, M., Wang, X., Chakarova, C., Waseem, N., Carss, K., et al.
Investigative Ophthalmology & Visual Science
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Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension
Bohnen, M., Ma, L., Zhu, N., Qi, H., McClenaghan, C., Gonzaga-Jauregui, C., et al.
Circulation. Genomic and Precision Medicine
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Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
Westbury, S., Downes, K., Burney, C., Lozano, M., Obaji, S., Toh, C., et al.
Blood Advances
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Reduced monocyte and macrophage TNFSF15/TL1A expression is associated with susceptibility to inflammatory bowel disease
Richard, A., Peters, J., Savinykh, N., Lee, J., Hawley, E., Meylan, F., et al.
PLoS genetics
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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
Fiorentino, A., Yu, J., Arno, G., Pontikos, N., Halford, S., Broadgate, S., et al.
Molecular Vision