Potential genetic causes of miscarriage in euploid pregnancies: a systematic review von Colley, Emily, Hamilton, Susan, Smith, Paul, Morgan, Neil V, Coomarasamy, Arri, Allen, Stephanie

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The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity von Damgaard, Rune Busk, Walker, Jennifer A., Marco-Casanova, Paola, Morgan, Neil V., Titheradge, Hannah L., Elliott, Paul R., McHale, Duncan, Maher, Eamonn R., McKenzie, Andrew N.J., Komander, David

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Editorial: Case reports in cardiovascular genetics and systems medicine: 2022 von Morgan, Neil V.

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STAT2 deficiency and susceptibility to viral illness in humans von Hambleton, Sophie, Goodbourn, Stephen, Young, Dan F., Dickinson, Paul, Mohamad, Siti M. B., Valappil, Manoj, McGovern, Naomi, Cant, Andrew J., Hackett, Scott J., Ghazal, Peter, Morgan, Neil V., Randall, Richard E.

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Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update von Markham-Lee, Zoe, Morgan, Neil V., Emsley, Jonas

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Post-translational polymodification of β1-tubulin regulates motor protein localisation in platelet production and function von Khan, Abdullah O, Slater, Alexandre, Maclachlan, Annabel, Nicolson, Phillip L R, Pike, Jeremy A, Reyat, Jasmeet S, Yule, Jack, Stapley, Rachel, Rayes, Julie, Thomas, Steven G, Morgan, Neil V

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Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth von Nieminen, Pekka, Morgan, Neil V., Fenwick, Aimée L., Parmanen, Satu, Veistinen, Lotta, Mikkola, Marja L., van der Spek, Peter J., Giraud, Andrew, Judd, Louise, Arte, Sirpa, Brueton, Louise A., Wall, Steven A., Mathijssen, Irene M.J., Maher, Eamonn R., Wilkie, Andrew O.M., Kreiborg, Sven, Thesleff, Irma

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Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding von Almazni, Ibrahim, Stapley, Rachel, Morgan, Neil V

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Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes von Lacey, Joanne, Webster, Simon J, Heath, Paul R, Hill, Chris J, Nicholson-Goult, Lucinda, Wagner, Bart E, Khan, Abdullah O, Morgan, Neil V, Makris, Michael, Daly, Martina E

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High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders von Khan, Abdullah O., Maclachlan, Annabel, Lowe, Gillian C., Nicolson, Phillip L. R., Al Ghaithi, Rashid, Thomas, Steven G., Watson, Steve P., Pike, Jeremy A., Morgan, Neil V.

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CRISPR-Cas9 Mediated Labelling Allows for Single Molecule Imaging and Resolution von Khan, Abdullah O., Simms, Victoria A., Pike, Jeremy A., Thomas, Steven G., Morgan, Neil V.

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Dual Proteolytic Pathways Govern Glycolysis and Immune Competence von Lu, Wei, Zhang, Yu, McDonald, David O., Jing, Huie, Carroll, Bernadette, Robertson, Nic, Zhang, Qian, Griffin, Helen, Sanderson, Sharon, Lakey, Jeremy H., Morgan, Neil V., Reynard, Louise N., Zheng, Lixin, Murdock, Heardley M., Turvey, Stuart E., Hackett, Scott J., Prestidge, Tim, Hall, Julie M., Cant, Andrew J., Matthews, Helen F., Koref, Mauro F. Santibanez, Simon, Anna Katharina, Korolchuk, Viktor I., Lenardo, Michael J., Hambleton, Sophie, Su, Helen C.

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Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy) von Hartley, Jane Louise, Zachos, Nicholas C, Dawood, Ban, Donowitz, Mark, Forman, Julia, Pollitt, Rodney J, Morgan, Neil V, Tee, Louise, Gissen, Paul, Kahr, Walter H.A, Knisely, Alex S, Watson, Steve, Chitayat, David, Booth, Ian W, Protheroe, Sue, Murphy, Stephen, de Vries, Esther, Kelly, Deirdre A, Maher, Eamonn R

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome von Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

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A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger von Bastida, José M, Malvestiti, Stefano, Boeckelmann, Doris, Palma-Barqueros, Verónica, Wolter, Mira, Lozano, María L, Glonnegger, Hannah, Benito, Rocío, Zaninetti, Carlo, Sobotta, Felix, Schilling, Freimut H, Morgan, Neil V, Freson, Kathleen, Rivera, José, Zieger, Barbara

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome von Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.

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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome von Maher, Eamonn R, Newbury-Ecob, Ruth, Tannahill, David, Tee, Louise, Dobyns, William B, Fieggen, Karen, Kjaer, Klaus W, Bond, Jacqueline, Woods, C Geoffery, Harris, Laura W, Rosser, Elisabeth, Cole, Trevor R P, Warburg, Mette, Mundlos, Stefan, Hoffmann, Katrin, Chen, Dongrong, Shield, Julian P, Morgan, Neil V, Clayton-Smith, Jill, Morton, Jenny, Hampshire, Daniel, Mégarbané, André, Stolte-Dijkstra, Irene, Maina, Esther N, Aligianis, Irene A, Trembath, Richard C, Horn, Denise, Johnson, Colin A, Ainsworth, John R, Gissen, Paul, Graham, John M, Takai, Yoshimi

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Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients von Vogt, Julie, Harrison, Benjamin J., Spearman, Hayley, Cossins, Judy, Vermeer, Sascha, ten Cate, Lambert Naudin, Morgan, Neil V., Beeson, David, Maher, Eamonn R.

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A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8) von Morgan, Neil V., Pasha, Shanaz, Johnson, Colin A., Ainsworth, John R., Eady, Robin A.J., Dawood, Ban, McKeown, Carole, Trembath, Richard C., Wilde, Jonathan, Watson, Steve P., Maher, Eamonn R.

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Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life von Lowe, Gillian C., Guiu, Isabel Sánchez, Chapman, Oliver, Rivera, José, Lordkipanidzé, Marie, Dovlatova, Natalia, Wilde, Jonathan, Watson, Steve P., Morgan, Neil V.

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