Identifying biological pathways that underlie primordial short stature using network analysis

Yazar: Hanson, Dan, Stevens, Adam, Murray, Philip G, Black, Graeme C M, Clayton, Peter E
Baskı/Yayın Bilgisi 2014

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

Yazar: Jun, Albert S., Meng, Huan, Ramanan, Naren, Matthaei, Mario, Chakravarti, Shukti, Bonshek, Richard, Black, Graeme C.M., Grebe, Rhonda, Kimos, Martha
Baskı/Yayın Bilgisi 2012

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

Yazar: Ramsden, Simon C, Davidson, Alice E, Leroy, Bart P, Moore, Anthony T, Webster, Andrew R, Black, Graeme C M, Manson, Forbes D C
Baskı/Yayın Bilgisi 2012

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

Yazar: Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.
Baskı/Yayın Bilgisi 2010

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

Yazar: Sallah, Shalaw R., Sergouniotis, Panagiotis I., Barton, Stephanie, Ramsden, Simon, Taylor, Rachel L., Safadi, Amro, Kabir, Mitra, Ellingford, Jamie M., Lench, Nick, Lovell, Simon C., Black, Graeme C. M.
Yayımlandı Eur J Hum Genet (2020)

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

Yazar: Ellingford, Jamie M, Sergouniotis, Panagiotis I, Lennon, Rachel, Bhaskar, Sanjeev, Williams, Simon G, Hillman, Kate A, O’Sullivan, James, Hall, Georgina, Ramsden, Simon C, Lloyd, I Christopher, Woolf, Adrian S, Black, Graeme C M
Yayımlandı Lancet (2015)

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Yazar: Kolehmainen, Juha, Black, Graeme C. M., Saarinen, Anne, Chandler, Kate, Clayton-Smith, Jill, Träskelin, Ann-Liz, Perveen, Rahat, Kivitie-Kallio, Satu, Norio, Reijo, Warburg, Mette, Fryns, Jean-Pierre, Chapelle, Albert de la, Lehesjoki, Anna-Elina
Baskı/Yayın Bilgisi 2003

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

Yazar: Hanson, Dan, Murray, Philip G., Sud, Amit, Temtamy, Samia A., Aglan, Mona, Superti-Furga, Andrea, Holder, Sue E., Urquhart, Jill, Hilton, Emma, Manson, Forbes D.C., Scambler, Peter, Black, Graeme C.M., Clayton, Peter E.
Baskı/Yayın Bilgisi 2009

Genetic and Functional Analyses Identify DISC1 as a Novel Callosal Agenesis Candidate Gene

Yazar: Osbun, Nathan, Li, Jiang, O’Driscoll, Mary C., Strominger, Zoe, Wakahiro, Mari, Rider, Eric, Bukshpun, Polina, Boland, Elena, Spurrell, Cailyn H., Schackwitz, Wendy, Pennacchio, Len A., Dobyns, William B., Black, Graeme C.M., Sherr, Elliott H.
Yayımlandı Am J Med Genet A (2011)

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Yazar: Boland, Elena , Clayton-Smith, Jill , Woo, Victoria G. , McKee, Shane , Manson, Forbes D. C. , Medne, Livija , Zackai, Elaine , Swanson, Eric A. , Fitzpatrick, David , Millen, Kathleen J. , Sherr, Elliott H. , Dobyns, William B. , Black, Graeme C. M. 
Baskı/Yayın Bilgisi 2007

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Yazar: Hanson, Dan, Murray, Philip G., O'Sullivan, James, Urquhart, Jill, Daly, Sarah, Bhaskar, Sanjeev S., Biesecker, Leslie G., Skae, Mars, Smith, Claire, Cole, Trevor, Kirk, Jeremy, Chandler, Kate, Kingston, Helen, Donnai, Dian, Clayton, Peter E., Black, Graeme C.M.
Baskı/Yayın Bilgisi 2011

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Yazar: Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
Baskı/Yayın Bilgisi 2013

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

Yazar: O'Sullivan, James, Bitu, Carolina C., Daly, Sarah B., Urquhart, Jill E., Barron, Martin J., Bhaskar, Sanjeev S., Martelli-Júnior, Hercilio, dos Santos Neto, Pedro Eleuterio, Mansilla, Maria A., Murray, Jeffrey C., Coletta, Ricardo D., Black, Graeme C.M., Dixon, Michael J.
Baskı/Yayın Bilgisi 2011

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

Yazar: Mitchell, Karen, O'Sullivan, James, Missero, Caterina, Blair, Ed, Richardson, Rose, Anderson, Beverley, Antonini, Dario, Murray, Jeffrey C., Shanske, Alan L., Schutte, Brian C., Romano, Rose-Anne, Sinha, Satrajit, Bhaskar, Sanjeev S., Black, Graeme C.M., Dixon, Jill, Dixon, Michael J.
Baskı/Yayın Bilgisi 2012

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Yazar: Conte, Ivan, Hadfield, Kristen D., Barbato, Sara, Carrella, Sabrina, Pizzo, Mariateresa, Bhat, Rajeshwari S., Carissimo, Annamaria, Karali, Marianthi, Porter, Louise F., Urquhart, Jill, Hateley, Sofie, O’Sullivan, James, Manson, Forbes D. C., Neuhauss, Stephan C. F., Banfi, Sandro, Black, Graeme C. M.
Yayımlandı Proc Natl Acad Sci U S A (2015)

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Yazar: Ellingford, Jamie M, Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I, Taylor, Rachel L, Carss, Keren J, Raymond, Lucy F L, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme C M
Yayımlandı J Med Genet (2018)

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Yazar: Burgess, Rosemary, Millar, Ian D., Leroy, Bart P., Urquhart, Jill E., Fearon, Ian M., De Baere, Elfrida, Brown, Peter D., Robson, Anthony G., Wright, Genevieve A., Kestelyn, Philippe, Holder, Graham E., Webster, Andrew R., Manson, Forbes D.C., Black, Graeme C.M.
Baskı/Yayın Bilgisi 2008

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Yazar: Nishimura, Darryl Y., Baye, Lisa M., Perveen, Rahat, Searby, Charles C., Avila-Fernandez, Almudena, Pereiro, Ines, Ayuso, Carmen, Valverde, Diana, Bishop, Paul N., Manson, Forbes D.C., Urquhart, Jill, Stone, Edwin M., Slusarski, Diane C., Black, Graeme C.M., Sheffield, Val C.
Baskı/Yayın Bilgisi 2010

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

Yazar: MacLaren, Robert E, Groppe, Markus, Barnard, Alun R, Cottriall, Charles L, Tolmachova, Tanya, Seymour, Len, Clark, K Reed, During, Matthew J, Cremers, Frans P M, Black, Graeme C M, Lotery, Andrew J, Downes, Susan M, Webster, Andrew R, Seabra, Miguel C
Baskı/Yayın Bilgisi 2014

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Yazar: Davidson, Alice E., Millar, Ian D., Urquhart, Jill E., Burgess-Mullan, Rosemary, Shweikh, Yusrah, Parry, Neil, O'Sullivan, James, Maher, Geoffrey J., McKibbin, Martin, Downes, Susan M., Lotery, Andrew J., Jacobson, Samuel G., Brown, Peter D., Black, Graeme C.M., Manson, Forbes D.C.
Baskı/Yayın Bilgisi 2009