Gene of the issue: RUNX1 mutations and inherited bleeding

Por Morgan, Neil V., Daly, Martina E.
Publicado no Platelets (2017)

Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan

Por Johnson, Ben, Fletcher, Sarah J., Morgan, Neil V.
Publicado no Platelets (2016)

Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing

Por Maclachlan, Annabel, Watson, Steve P., Morgan, Neil V.
Publicado no Platelets (2017)

High Frequency of Large Intragenic Deletions in the Fanconi Anemia Group A Gene

Por Morgan, Neil V., Tipping, Alex J., Joenje, Hans, Mathew, Christopher G.
Publicado em 1999

CRISPR-Cas9 Mediated Labelling Allows for Single Molecule Imaging and Resolution

Por Khan, Abdullah O., Simms, Victoria A., Pike, Jeremy A., Thomas, Steven G., Morgan, Neil V.
Publicado no Sci Rep (2017)

Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function

Por Maclachlan, Annabel, Dolan, Gerry, Grimley, Charlotte, Watson, Steve P., Morgan, Neil V., on behalf of the UK GAPP Study Group
Publicado no Platelets (2017)

Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation

Por Fletcher, Sarah J., Pisareva, Vera P., Khan, Abdullah O., Tcherepanov, Andrew, Morgan, Neil V., Pisarev, Andrey V.
Publicado no RNA (2018)

Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

Por Meyer, Esther, Rahman, Fatimah, Owens, Jessica, Pasha, Shanaz, Morgan, Neil V., Trembath, Richard C., Stone, Edwin M., Moore, Anthony T., Maher, Eamonn R.
Publicado em 2009

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

Por Lowe, Gillian C., Guiu, Isabel Sánchez, Chapman, Oliver, Rivera, José, Lordkipanidzé, Marie, Dovlatova, Natalia, Wilde, Jonathan, Watson, Steve P., Morgan, Neil V.
Publicado em 2013

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Por Vogt, Julie, Harrison, Benjamin J., Spearman, Hayley, Cossins, Judy, Vermeer, Sascha, ten Cate, Lambert Naudin, Morgan, Neil V., Beeson, David, Maher, Eamonn R.
Publicado em 2008

Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication

Por Seong, Rak-Kyun, Seo, Seong-wook, Kim, Ji-Ae, Fletcher, Sarah J., Morgan, Neil V., Kumar, Mukesh, Choi, Young-Ki, Shin, Ok Sarah
Publicado no Immunobiology (2017)

AstuteClinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 ofICOSCauses a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

Por Robertson, Nic, Engelhardt, Karin R., Morgan, Neil V., Barge, Dawn, Cant, Andrew J., Hughes, Stephen M., Abinun, Mario, Xu, Yaobo, Koref, Mauro Santibanez, Arkwright, Peter D., Hambleton, Sophie
Publicado no J Clin Immunol (2015)

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Por 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.
Publicado em 2006

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Por Morgan, Neil V, Hartley, Jane L, Setchell, Kenneth DR, Simpson, Michael A, Brown, Rachel, Tee, Louise, Kirkham, Sian, Pasha, Shanaz, Trembath, Richard C, Maher, Eamonn R, Gissen, Paul, Kelly, Deirdre A
Publicado em 2013

Diversity and Impact of Rare Variants in Genes Encoding the Platelet G Protein-Coupled Receptors

Por Jones, Matthew L., Norman, Jane E., Morgan, Neil V., Mundell, Stuart J., Lordkipanidzé, Marie, Lowe, Gillian C., Daly, Martina E., Simpson, Michael A., Drake, Sian, Watson, Steve P., Mumford, Andrew D.
Publicado no Thromb Haemost (2015)

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

Por 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
Publicado no Cell (2016)

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

Por Aligianis, Irene A., Morgan, Neil V., Mione, Marina, Johnson, Colin A., Rosser, Elisabeth, Hennekam, Raoul C., Adams, Gill, Trembath, Richard C., Pilz, Daniela T., Stoodley, Neil, Moore, Anthony T., Wilson, Steve, Maher, Eamonn R.
Publicado em 2006

STAT2 deficiency and susceptibility to viral illness in humans

Por 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.
Publicado em 2013

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ(+) T cells

Por Morgan, Neil V., Goddard, Sarah, Cardno, Tony S., McDonald, David, Rahman, Fatimah, Barge, Dawn, Ciupek, Andrew, Straatman-Iwanowska, Anna, Pasha, Shanaz, Guckian, Mary, Anderson, Graham, Huissoon, Aarnoud, Cant, Andrew, Tate, Warren P., Hambleton, Sophie, Maher, Eamonn R.
Publicado em 2011

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

Por Fletcher, Sarah J., Johnson, Ben, Lowe, Gillian C., Bem, Danai, Drake, Sian, Lordkipanidzé, Marie, Guiú, Isabel Sánchez, Dawood, Ban, Rivera, José, Simpson, Michael A., Daly, Martina E., Motwani, Jayashree, Collins, Peter W., Watson, Steve P., Morgan, Neil V.
Publicado no J Clin Invest (2015)