MichelaNglo: sculpting protein views on web pages without coding

由 Ferla, Matteo P, Pagnamenta, Alistair T, Damerell, David, Taylor, Jenny C, Marsden, Brian D
發表在 Bioinformatics (2020)

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

由 Shields, Adrian M., Pagnamenta, Alistair T., Pollard, Andrew J., Taylor, Jenny C., Allroggen, Holger, Patel, Smita Y.
發表在 Front Immunol (2019)

Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum

由 Aoto, Saki, Katagiri, Saki, Wang, Yi, Pagnamenta, Alistair T., Sakamoto-Abutani, Rie, Toyoda, Masashi, Umezawa, Akihiro, Okamura, Kohji
發表在 Stem Cell Res Ther (2019)

Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

由 Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
發表在 Clin Case Rep (2016)

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

由 Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann
出版 2005

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly

由 Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
發表在 Hum Mutat (2018)

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

由 Pagnamenta, Alistair T., Holt, Richard, Yusuf, Mohammed, Pinto, Dalila, Wing, Kirsty, Betancur, Catalina, Scherer, Stephen W., Volpi, Emanuela V., Monaco, Anthony P.
出版 2011

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

由 Stevenson, Mark, Pagnamenta, Alistair T., Reichart, Silvia, Philpott, Charlotte, Lines, Kate E., Gorvin, Caroline M., Lhotta, Karl, Taylor, Jenny C., Thakker, Rajesh V.
發表在 Am J Med Genet A (2020)

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

由 Holt, Richard, Sykes, Nuala H, Conceição, Inês C, Cazier, Jean-Baptiste, Anney, Richard JL, Oliveira, Guiomar, Gallagher, Louise, Vicente, Astrid, Monaco, Anthony P, Pagnamenta, Alistair T
出版 2012

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

由 Sykes, Nuala H, Toma, Claudio, Wilson, Natalie, Volpi, Emanuela V, Sousa, Inês, Pagnamenta, Alistair T, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena, Bailey, Anthony J, Monaco, Anthony P
出版 2009

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

由 Vieland, Veronica J., Hallmayer, Joachim, Huang, Yungui, Pagnamenta, Alistair T., Pinto, Dalila, Khan, Hameed, Monaco, Anthony P., Paterson, Andrew D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter
出版 2011

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins

由 Yang, Cheng-Tao, French, Anna, Goh, Pollyanna Agnes, Pagnamenta, Alistair, Mettananda, Sachith, Taylor, Jenny, Knight, Sam, Nathwani, Amit, Roberts, David J, Watt, Suzanne M, Carpenter, Lee
發表在 Br J Haematol (2014)

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

由 Sousa, Inês, Clark, Taane G, Holt, Richard, Pagnamenta, Alistair T, Mulder, Erik J, Minderaa, Ruud B, Bailey, Anthony J, Battaglia, Agatino, Klauck, Sabine M, Poustka, Fritz, Monaco, Anthony P
出版 2010

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

由 Pagnamenta, Alistair T., Howard, Malcolm F., Wisniewski, Eva, Popitsch, Niko, Knight, Samantha J.L., Keays, David A., Quaghebeur, Gerardine, Cox, Helen, Cox, Phillip, Balla, Tamas, Taylor, Jenny C., Kini, Usha
發表在 Hum Mol Genet (2015)

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

由 Bolton, Chrissy, Burch, Nicola, Morgan, James, Harrison, Beth, Pandey, Sumeet, Pagnamenta, Alistair T, Taylor, Jenny C, Taylor, John M, Marsh, Judith C W, Potter, Victoria, Travis, Simon, Uhlig, Holm H
發表在 J Crohns Colitis (2020)

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

由 Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima
發表在 Hum Mol Genet (2015)

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

由 Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima
發表在 Hum Mol Genet (2010)

A 15q13.3 microdeletion segregating with autism

由 Pagnamenta, Alistair T, Wing, Kirsty, Akha, Elham Sadighi, Knight, Samantha JL, Bölte, Sven, Schmötzer, Gabriele, Duketis, Eftichia, Poustka, Fritz, Klauck, Sabine M, Poustka, Annemarie, Ragoussis, Jiannis, Bailey, Anthony J, Monaco, Anthony P
出版 2009

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

由 Pagnamenta, Alistair T, Murray, Jennie E, Yoon, Grace, Akha, Elham Sadighi, Harrison, Victoria, Bicknell, Louise S, Ajilogba, Kaseem, Stewart, Helen, Kini, Usha, Taylor, Jenny C, Keays, David A, Jackson, Andrew P, Knight, Samantha JL
出版 2012

Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

由 Piret, Sian E, Gorvin, Caroline M, Pagnamenta, Alistair T, Howles, Sarah A, Cranston, Treena, Rust, Nigel, Nesbit, M Andrew, Glaser, Ben, Taylor, Jenny C, Buchs, Andreas E, Hannan, Fadil M, Thakker, Rajesh V
發表在 J Bone Miner Res (2016)