Showing the latest 475 publications
Publications 321-330 of 475
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, A., Stephens, J., French, C., Gleadall, N., Mégy, K., Penkett, C., et al.
Genome Medicine
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Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration
Borooah, S., Stanton, C., Marsh, J., Carss, K., Waseem, N., Biswas, P., et al.
Ophthalmic Genetics
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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
Bariana, T., Labarque, V., Heremans, J., Thys, C., De Reys, M., Greene, D., et al.
Haematologica
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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