MichelaNglo: sculpting protein views on web pages without coding

por Ferla, Matteo P, Pagnamenta, Alistair T, Damerell, David, Taylor, Jenny C, Marsden, Brian D
Publicado 2020

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation

por Ferla, Matteo P., Pagnamenta, Alistair T., Koukouflis, Leonidas, Taylor, Jenny C., Marsden, Brian D.
Publicado 2022

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

por Shields, Adrian M., Pagnamenta, Alistair T., Pollard, Andrew J., Taylor, Jenny C., Allroggen, Holger, Patel, Smita Y.
Publicado 2019

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

por Aoto, Saki, Katagiri, Saki, Wang, Yi, Pagnamenta, Alistair T., Sakamoto-Abutani, Rie, Toyoda, Masashi, Umezawa, Akihiro, Okamura, Kohji
Publicado 2019

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

por Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Publicado 2016

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

por Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
Publicado 2018

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

por Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V
Publicado 2022

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

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

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

por Stevenson, Mark, Pagnamenta, Alistair T., Reichart, Silvia, Philpott, Charlotte, Lines, Kate E., Gorvin, Caroline M., Lhotta, Karl, Taylor, Jenny C., Thakker, Rajesh V.
Publicado 2020

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

por Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C
Publicado 2023

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

por 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
Publicado 2012

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

por 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
Publicado 2009

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

por 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
Publicado 2011

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

por 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
Publicado 2014

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

por 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
Publicado 2010

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

por 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
Publicado 2015

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

por 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
Publicado 2020

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

por Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C
Publicado 2022

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

por 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
Publicado 2012

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

por 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
Publicado 2016