S. Abbs

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

Straub, F. Muntoni, S. Al-Sarraj, 2010, Annals of neurology.

Deletions in the 5' region of dystrophin and resulting phenotypes.

F. Muntoni, M. Bobrow, S. Hodgson, 1994, Journal of medical genetics.

ACGS Best Practice Guidelines for Variant Classification 2019

Diana M Eccles, Clare Turnbull, Emma L Baple, 2019 .

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

I. Graham, K. Bushby, F. Muntoni, 2009, The Lancet Neurology.

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

C. Lewis, C. Mathew, K. Davies, 1998, European Journal of Human Genetics.

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.

Axel Benner, Gillian Baird, Annemarie Poustka, 2001, Human molecular genetics.

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

F. Muntoni, J. Palace, N. Laing, 2010, Neuromuscular Disorders.

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

D. Baralle, F. Muntoni, S. Al-Sarraj, 2011, Neuromuscular Disorders.

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies

K. Bushby, F. Muntoni, U. Jensen, 2012, Human mutation.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

M. Roberts, B. Engelen, F. Muntoni, 2013, Neuromuscular Disorders.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Jonathan M. Mudge, Dmitri D. Pervouchine, J. Harrow, 2019, npj Genomic Medicine.

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Jonathan M. Mudge, Dmitri D. Pervouchine, J. Harrow, 2019, bioRxiv.

Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics .

A. Devereau, Z. Deans, S. Abbs, 2013 .

Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer.

R. Butler, Z. Deans, S. Abbs, 2011, Genetic testing and molecular biomarkers.

EMQN best practice guidelines for genetic testing in dystrophinopathies

R. Dalgleish, A. Ferlini, S. Abbs, 2020, European Journal of Human Genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

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

Susan C. Brown, F. Muntoni, K. Campbell, 2009, Brain pathology.

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

S. Mansour, S. Abbs, P. Vasudevan, 2017, American journal of medical genetics. Part A.

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

K. Bushby, F. Muntoni, F. Geranmayeh, 2010, Neuromuscular Disorders.

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

E. Mercuri, F. Muntoni, A. Manzur, 2012, Neuromuscular Disorders.

SEPN1-related myopathies

M. Main, M. Pane, E. Mercuri, 2011, Neurology.

Practice guidelines for Targeted Next Generation Sequencing Analysis and Interpretation

S. Ellard, Z. Deans, C. Mattocks, 2014 .

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

Sri V. V. Deevi, Courtney E. French, K. Stirrups, 2019, Intensive Care Medicine.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Katherine R. Smith, Karen M. Oprych, A. Need, 2020 .

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability

M. Bobrow, V. Dubowitz, S. Hodgson, 1992, Neuromuscular Disorders.

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

A. Covone, C. Broeckhoven, K. Bushby, 2004, Human Genetics.

Low Prevalence of BRCA1 Exon Rearrangements in Familial and Young Sporadic Breast Cancer Patients

S. Hodgson, S. Abbs, D. Ellis, 2006, Familial Cancer.

S. Mehta, A. Offiah, K. Rosendahl, 2019, American journal of medical genetics. Part A.

Investigation of a female manifesting Becker muscular dystrophy.

I. Glass, M. Johnson, S. Abbs, 1992, Journal of medical genetics.

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

F. Muntoni, S. Al-Sarraj, Haiyan Zhou, 2010, Neuromuscular Disorders.

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

F. Muntoni, M. Falzarano, A. Ferlini, 2008, BMC Genomics.

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

T. Yousry, J. Holton, F. Leturcq, 2010, Archives of neurology.

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting

R. Sandford, M. Tischkowitz, S. Abbs, 2018, Clinical and experimental dermatology.

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

M. Marlais, M. Saleem, S. Abbs, 2014, BMC Nephrology.

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

Soo-Mi Park, A. Powlson, R. Casey, 2018, Endocrinology, diabetes & metabolism case reports.

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

Soo-Mi Park, S. Abbs, R. Armstrong, 2017, neurogenetics.

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

C. Mathew, J. McGrath, N. Whittock, 1999, The Journal of investigative dermatology.

Prenatal diagnosis of Duchenne and Becker muscular dystrophy

S. Abbs, 1996, Prenatal diagnosis.

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

R. Bowman, M. Votruba, P. Yu-Wai-Man, 2018, European Journal of Human Genetics.

Clinical utility gene card for Jurkute , Neringa 2019-03

R. Bowman, M. Votruba, P. Yu-Wai-Man, 2022 .

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients

F. Muntoni, S. Abbs, E. Clement, 2011, Muscle & nerve.

Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family

M. Bobrow, S. Abbs, S. Yau, 1999, Journal of medical genetics.

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.

M. Pane, E. Mercuri, F. Muntoni, 2011, Archives of neurology.

Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy

Susan C. Brown, F. Muntoni, Y. Shapira, 2006, Annals of neurology.

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

D. Birchall, K. Bushby, F. Muntoni, 2013, Neuromuscular Disorders.

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy.

C. Mathew, A. Thornhill, A. Handyside, 2001, Molecular human reproduction.

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

F. Muntoni, M. Zatz, N. Romero, 2005, Neuromuscular Disorders.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Susan C. Brown, F. Muntoni, C. Sewry, 2008, Archives of neurology.

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

F. Muntoni, Haiyan Zhou, H. Jungbluth, 2010, Neuromuscular Disorders.

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.

R. Andrews, P. Dhami, D. Vetrie, 2005, American journal of human genetics.

Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis.

Peter Braude, Stephen Abbs, Hiva Fassihi, 2006, Reproductive biomedicine online.

Determination of the genetic status of cleavage‐stage human embryos by microsatellite marker analysis following multiple displacement amplification

C. Lewis, S. Abbs, C. Ogilvie, 2007, Prenatal diagnosis.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

F. Muntoni, J. Dowling, K. Mills, 2009, Neuromuscular Disorders.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.

C. Mathew, M. Bobrow, S. Abbs, 1991, Journal of medical genetics.

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

F. Muntoni, M. Scoto, A. Manzur, 2013, Neuromuscular Disorders.

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

J. Bourke, K. Bushby, F. Muntoni, 2011, The Lancet.

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

M. Swash, F. Muntoni, Haiyan Zhou, 2009, Neuromuscular Disorders.

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

G. Danieli, F. Muntoni, C. Angelini, 2002, Genomics.

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.

D. Bentley, C. Mathew, M. Bobrow, 1990, Genomics.

EMQN best practice guidelines for genetic testing in dystrophinopathies

R. Dalgleish, A. Ferlini, S. Abbs, 2020, European Journal of Human Genetics.

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

Stephen J. Guter, A. Bailey, G. Baird, 2001, American journal of human genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

F. Muntoni, E. Calzolari, C. Angelini, 2006, Gene.

Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics .

A. Devereau, Z. Deans, S. Abbs, 2013 .

Localization of the gene for classic Alport syndrome.

M. Bobrow, S. Abbs, F. Flinter, 1989, Genomics.

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

A. Ferlini, T. Sejersen, E. Bakker, 2010, Neuromuscular Disorders.

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.

D. Bentley, A. Covone, C. Junien, 1992, JAMA.

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

T. Jacques, Amanda J Murphy, N. Dlamini, 2013, Neuromuscular Disorders.

Dystrophin point mutation screening using a multiplexed protein truncation test.

C. Mathew, N. Whittock, S. Abbs, 1997, Genetic testing.

X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations

S. Holden, R. McGowan, A. Hunter, 2011, American journal of medical genetics. Part A.

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

S. Abbs, P. Vasudevan, P. Alexander, 2020, Molecular genetics & genomic medicine.

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study

Suzanne Miller, H. Earl, P. Pharoah, 2016, Journal of Medical Genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

S. Abbs, C. Ogilvie, Z. Docherty, 2001, The Lancet.

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Susan C. Brown, E. Mercuri, K. Bushby, 2007, Brain : a journal of neurology.

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Sri V. V. Deevi, Nicholas S. Gleadall, W. Ouwehand, 2018, bioRxiv.

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.

M. Bobrow, S. Abbs, Martin Bobrow, 1992, Journal of medical genetics.

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

E. Mercuri, K. Bushby, F. Muntoni, 2008, Annals of neurology.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Jonathan M. Mudge, J. Harrow, A. Frankish, 2019, npj Genomic Medicine.

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020

S. Ellard, D. Eccles, W. Newman, 2020 .

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

E. Bertini, M. Simpson, H. Goebel, 2012, Nature Genetics.

Primary or secondary laminin-alpha 2 deficiency?

Francesco Muntoni, Sc Brown, Caroline A. Sewry, 2004 .

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

F. Muntoni, N. Laing, V. Dubowitz, 2012, Neuromuscular Disorders.

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

C. Mathew, M. Bobrow, S. Abbs, 1996, Journal of medical genetics.

242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.

C. van Broeckhoven, J. D. den Dunnen, M. Bobrow, 1991, Genomics.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein

S. Abbs, K. Becker, R. Roberts, 2003, Human mutation.

M. Main, M. Pane, E. Mercuri, 2011, Neuromuscular Disorders.

Development of NMD Gene Chips for the complete DNA diagnosis of Inherited Neuromuscular Disorders

Francesco Muntoni, Shu Yau, Sebahattin Cirak, 2010 .

A deletion hot spot in the Duchenne muscular dystrophy gene.

J. D. den Dunnen, M. Wapenaar, M. Bobrow, 1988, Genomics.

Clinical utility gene card for: Multi-minicore disease

F. Muntoni, A. Ferreiro, H. Jungbluth, 2011, European Journal of Human Genetics.

Clinical utility gene card for: Central core disease

F. Muntoni, H. Jungbluth, S. Lillis, 2011, European Journal of Human Genetics.

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman–Sheldon Syndrome caused by a pathogenic MYH3 mutation

Soo-Mi Park, S. Abbs, I. Delon, 2016, American journal of medical genetics. Part A.

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.

M. Bobrow, V. Dubowitz, S. Hodgson, 1989, Journal of medical genetics.

Correlation ofclinical anddeletion datain Duchenne andBecker muscular dystrophy

M. Bobrow, S. Hodgson, S. Abbs, 1989 .

ABSENCE OF DYSTROPHIN IN BECKER MUSCULAR DYSTROPHY

M. Bobrow, V. Dubowitz, S. Abbs, 1989, The Lancet.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

J. Savige, S. Abbs, F. Flinter, 2013, Journal of the American Society of Nephrology : JASN.

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene

Z. Deans, S. Abbs, E. Ashton, 2008, European Journal of Human Genetics.

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome: A First Report

M. Tischkowitz, S. Abbs, Kieren Allinson, 2015, Journal of neuropathology and experimental neurology.

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

F. Muntoni, T. Jacques, M. Scoto, 2013, European Journal of Human Genetics.

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

R. Sandford, S. Abbs, P. Alexander, 2018, European Journal of Human Genetics.

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

F. Muntoni, H. Jungbluth, T. Cullup, 2012, Neuromuscular Disorders.

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

I. Simonic, Soo-Mi Park, S. Abbs, 2017, American Journal of Medical Genetics. Part A.

Pathogenic and nonpathogenic deletions in two families with Duchenne muscular dystrophy.

M. Bobrow, S. Abbs, K. Hart, 1989, American journal of medical genetics.

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

Soo-Mi Park, S. Abbs, R. Armstrong, 2017, neurogenetics.

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

I. Graham, F. Muntoni, P. Nihoyannopoulos, 2009, The Lancet. Neurology.

Nature Encyclopaedia of the Human Genome

Fred Kavalier, Stephen Abbs, Tracy Bussoli, 2004, BMJ : British Medical Journal.

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

Tomi D. Berney, E Maestrini, Stephen J. Guter, 2009, Molecular Psychiatry.

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

K. Bushby, F. Muntoni, K. Anthony, 2011, Lancet.

Molecular deletions in the Duchenne/Becker muscular dystrophy gene

C. Cole, M. Wapenaar, M. Bobrow, 1989, Clinical genetics.

A novel and rapid mutation screening approach facilitates prenatal diagnosis

Z. Deans, S. Abbs, E. Ashton, 2005, Prenatal Diagnosis.

Report on the 16th ENMC workshop—Carrier diagnosis of Duchenne and Becker muscular dystrophy Baarn, The Netherlands, 18–20 September 1992

M. Bobrow, S. Abbs, 1993, Neuromuscular Disorders.