Search Results - "Blakes, Alexander J.M."

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy by Blakes, Alexander J. M., English, Joel, Banka, Siddharth, Basu, Helen

“…Pathogenic variants in glutamate receptor, ionotropic, NMDA‐1 (GRIN1) cause an autosomal dominant or recessive neurodevelopmental disorder with global…”
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Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants by Lord, Jenny, Oquendo, Carolina J., Wai, Htoo A., Holloway, John G., Martin-Geary, Alexandra, Blakes, Alexander J.M., Arciero, Elena, Domcke, Silvia, Childs, Anne-Marie, Low, Karen, Rankin, Julia, Baralle, Diana, Martin, Hilary C., Whiffin, Nicola

“…Identifying pathogenic noncoding variants is challenging. A single protein-altering variant is often identified in a recessive gene in individuals with…”
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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design by Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

“…Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP3) receptor type 1 (IP3R1), a critical player in cerebellar intracellular calcium…”
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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity by Blakes, Alexander J M, Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M, Bicknell, Louise S, Jackson, Meremaihi R, Wade, Emma M, Robertson, Stephen, White, Susan M, Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G L

“…ABL1 is a proto-oncogene encoding a nonreceptor tyrosine kinase, best known in the somatic BCR-ABL fusion gene associated with chronic myeloid leukaemia…”
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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project by Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny

“…Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are…”
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