Nature Encyclopaedia of the Human Genome

per Abbs, Stephen, Bussoli, Tracy, Kavalier, Fred
Publicat 2004

Clinical utility gene card for: Central core disease

per Lillis, Suzanne, Abbs, Stephen, Mueller, Clemens R, Muntoni, Francesco, Jungbluth, Heinz
Publicat 2012

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

per Storey, Helen, Savige, Judy, Sivakumar, Vanessa, Abbs, Stephen, Flinter, Frances A.
Publicat 2013

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

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

EMQN best practice guidelines for genetic testing in dystrophinopathies

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

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

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

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

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

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

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

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

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

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

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

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

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

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

per 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
Publicat 2013

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

per 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
Publicat a Eur J Hum Genet (2018)

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

per 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
Publicat a Intensive Care Med (2019)

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

per 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.
Publicat a Int J Endocrinol (2015)

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

per 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
Publicat 2008

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

per 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
Publicat 2008

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

per 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
Publicat 2010

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

per 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
Publicat 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...

per 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
Publicat 2009