Nature Encyclopaedia of the Human Genome

Autor Abbs, Stephen, Bussoli, Tracy, Kavalier, Fred
Vydáno 2004

Clinical utility gene card for: Central core disease

Autor Lillis, Suzanne, Abbs, Stephen, Mueller, Clemens R, Muntoni, Francesco, Jungbluth, Heinz
Vydáno 2012

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Autor Storey, Helen, Savige, Judy, Sivakumar, Vanessa, Abbs, Stephen, Flinter, Frances A.
Vydáno 2013

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy

Autor Plumb, Lucy A, Marlais, Matko, Bierzynska, Agnieszka, Martin, Howard, Brugger, Kim, Abbs, Stephen, Saleem, Moin A
Vydáno 2014

EMQN best practice guidelines for genetic testing in dystrophinopathies

Autor Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Vydáno v Eur J Hum Genet (2020)

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report

Autor Clissold, Rhian L., Clarke, Helen C., Spasic-Boskovic, Olivera, Brugger, Kim, Abbs, Stephen, Bingham, Coralie, Shaw-Smith, Charles
Vydáno v BMC Nephrol (2017)

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Autor Schon, Katherine, Spasic-Boskovic, Olivera, Brugger, Kim, Graves, Tracey D., Abbs, Stephen, Park, Soo-Mi, Ambegaonkar, Gautam, Armstrong, Ruth
Vydáno v Neurogenetics (2017)

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Autor Nixon, Thomas, Richards, Allan J., Lomas, Adrian, Abbs, Stephen, Vasudevan, Pradeep, McNinch, Annie, Alexander, Philip, Snead, Martin P.
Vydáno v Mol Genet Genomic Med (2020)

Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome

Autor Dhami, Pawandeep, Coffey, Alison J., Abbs, Stephen, Vermeesch, Joris R., Dumanski, Jan P., Woodward, Karen J., Andrews, Robert M., Langford, Cordelia, Vetrie, David
Vydáno 2005

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Autor Hague, Jennifer, Casey, Ruth, Bruty, Jonathan, Legerton, Tom, Abbs, Stephen, Oddy, Susan, Powlson, Andrew S, Majeed, Mohamed, Gurnell, Mark, Park, Soo-Mi, Simpson, Helen
Vydáno v Endocrinol Diabetes Metab Case Rep (2018)

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Autor Nixon, Thomas R. W., Richards, Allan, Towns, Laura K., Fuller, Gavin, Abbs, Stephen, Alexander, Philip, McNinch, Annie, Sandford, Richard N., Snead, Martin P.
Vydáno v Eur J Hum Genet (2018)

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Autor Scoto, Mariacristina, Cullup, Thomas, Cirak, Sebahattin, Yau, Shu, Manzur, Adnan Y, Feng, Lucy, Jacques, Thomas S, Anderson, Glenn, Abbs, Stephen, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco
Vydáno 2013

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Autor Jurkute, Neringa, Majander, Anna, Bowman, Richard, Votruba, Marcela, Abbs, Stephen, Acheson, James, Lenaers, Guy, Amati-Bonneau, Patrizia, Moosajee, Mariya, Arno, Gavin, Yu-Wai-Man, Patrick
Vydáno v Eur J Hum Genet (2018)

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Autor French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Vydáno v Intensive Care Med (2019)

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

Autor Luchetti, Andrea, Walsh, Diana, Rodger, Fay, Clark, Graeme, Martin, Tom, Irving, Richard, Sanna, Mario, Yao, Masahiro, Robledo, Mercedes, Neumann, Hartmut P. H., Woodward, Emma R., Latif, Farida, Abbs, Stephen, Martin, Howard, Maher, Eamonn R.
Vydáno v Int J Endocrinol (2015)

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Autor Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra
Vydáno 2008

A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Seve...

Autor Jimenez‐Mallebrera, Cecilia, Torelli, Silvia, Feng, Lucy, Kim, Jihee, Godfrey, Caroline, Clement, Emma, Mein, Rachael, Abbs, Stephen, Brown, Susan C., Campbell, Kevin P., Kröger, Stephan, Talim, Beril, Topaloglu, Haluk, Quinlivan, Ros, Roper, Helen, Childs, Anne M., Kinali, Maria, Sewry, Caroline A., Muntoni, Francesco
Vydáno 2008

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Autor Zhou, Haiyan, Lillis, Suzanne, Loy, Ryan E., Ghassemi, Farshid, Rose, Michael R., Norwood, Fiona, Mills, Kerry, Al-Sarraj, Safa, Lane, Russell J.M., Feng, Lucy, Matthews, Emma, Sewry, Caroline A., Abbs, Stephen, Buk, Stefan, Hanna, Michael, Treves, Susan, Dirksen, Robert T., Meissner, Gerhard, Muntoni, Francesco, Jungbluth, Heinz
Vydáno 2010

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-...

Autor Cirak, Sebahattin, Arechavala-Gomeza, Virginia, Guglieri, Michela, Feng, Lucy, Torelli, Silvia, Anthony, Karen, Abbs, Stephen, Garralda, Maria Elena, Bourke, John, Wells, Dominic J, Dickson, George, Wood, Matthew JA, Wilton, Steve D, Straub, Volker, Kole, Ryszard, Shrewsbury, Stephen B, Sewry, Caroline, Morgan, Jennifer E, Bushby, Kate, Muntoni, Francesco
Vydáno 2011

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-conce...

Autor Kinali, Maria, Arechavala-Gomeza, Virginia, Feng, Lucy, Cirak, Sebahattin, Hunt, David, Adkin, Carl, Guglieri, Michela, Ashton, Emma, Abbs, Stephen, Nihoyannopoulos, Petros, Garralda, Maria Elena, Rutherford, Mary, Mcculley, Caroline, Popplewell, Linda, Graham, Ian R, Dickson, George, Wood, Matthew JA, Wells, Dominic J, Wilton, Steve D, Kole, Ryszard, Straub, Volker, Bushby, Kate, Sewry, Caroline, Morgan, Jennifer E, Muntoni, Francesco
Vydáno 2009