Alba Segarra Casas Yolande Parkhurst Robert Muni Lofra Professor Chiara Marini Bettolo Professor Volker Straub et al. | An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy | 2024 |
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Dr Ana Topf Dr Karin Engelhardt Professor Sophie Hambleton Professor Jordi Diaz Manera Professor Chiara Marini Bettolo et al. | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 2024 |
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Dr Ana Topf Daniel Cox Dr Valeria Di Leo Professor Chiara Marini Bettolo Professor Jordi Diaz Manera et al. | Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | 2024 |
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Professor Volker Straub Dr Ana Topf
| Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy | 2024 |
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Dr Ana Topf Dr Jennifer Duff Dr Lizzie Harris Professor Chiara Marini Bettolo Professor Volker Straub et al. | Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement | 2024 |
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Dr Ana Topf
| Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series | 2024 |
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Dr Ana Topf
| Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes | 2024 |
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Dr Ana Topf Professor Rita Horvath Professor Hanns Lochmuller Dr Andreas Roos
| A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function | 2023 |
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Dr Andreas Roos Dr Hadil Alrohaif Dr Rita Barresi Dr Ana Topf Dr Teresinha Evangelista et al. | Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects | 2023 |
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Dr Ana Topf Dr Jennifer Duff Dr Richard Charlton Professor Volker Straub
| Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure | 2023 |
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Professor Giorgio Tasca Professor Chiara Marini Bettolo Dr Ana Topf Professor Michela Guglieri Professor Volker Straub et al. | Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis | 2023 |
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Dr William Macken Dr Mahmoud Fassad Dr Fei Gao Krutik Patel Dr Ana Topf et al. | Neuromuscular disease genetics in under-represented populations: increasing data diversity | 2023 |
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Dr Ana Topf
| Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases | 2023 |
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Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al. | The John Walton Muscular Dystrophy Research Centre Biobank | 2023 |
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Dr Ana Topf Dr Teresinha Evangelista Professor Volker Straub Professor John-Paul Taylor
| Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy | 2022 |
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Dr Ana Topf
| Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement | 2022 |
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Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath Dr Andreas Roos
| Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects | 2022 |
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Dr Ana Topf Daniel Cox Dr Lizzie Harris
| STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39 | 2022 |
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Dr Sabine Specht Dr Jennifer Duff Dr Richard Charlton Dr Tuomo Polvikoski Dr Rita Barresi et al. | A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A | 2021 |
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Professor Michael Hanna Dr Ana Topf Professor Volker Straub
| A form of muscular dystrophy associated with pathogenic variants in JAG2 | 2021 |
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Dr Ana Topf
| A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients | 2021 |
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Sunitha Balaraju Dr Ana Topf Professor Rita Horvath
| Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease | 2021 |
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Dr Ana Topf
| Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis | 2021 |
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Dr Ana Topf Professor Volker Straub Professor Chiara Marini Bettolo Dr Sabine Specht
| Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 10.1038/s41431-021-00901-1) | 2021 |
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Dr Ana Topf Dr Angela Pyle Dr Helen Griffin Professor Patrick Chinnery Dr Andreas Roos et al. | Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) | 2021 |
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Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath Dr Andreas Roos
| Molecular pathophysiology of human MICU1 deficiency | 2021 |
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Professor Hanns Lochmuller Dr Ana Topf Professor Rita Horvath
| COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children | 2020 |
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Dr Katherine Johnson Dr Ana Topf Professor Volker Straub
| POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern | 2020 |
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Dr Albert Lim Dr Grace McMacken Francesca Rastelli Dr Monika Olahova Karen Baty et al. | A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features | 2020 |
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Professor Volker Straub Dr Ana Topf
| Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity | 2020 |
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Benjamin Munro Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath
| Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families | 2020 |
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Dr Katherine Johnson Dr Ana Topf Professor Volker Straub
| First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC | 2020 |
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Dr Lindsay Murphy Agata Robertson Dr Ana Topf Professor Volker Straub
| Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9 | 2020 |
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Dr Katherine Johnson Dr Ana Topf Rachel Thompson Professor Hanns Lochmuller Professor Volker Straub et al. | Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies | 2020 |
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Dr Ana Topf Dr Katherine Johnson Adam Bates Lauren Charlotte Phillips Phillips Dr Marta Bertoli et al. | Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness | 2020 |
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Dr Ana Topf Sunitha Balaraju Rachel Thompson Dr Andreas Roos Professor Hanns Lochmuller et al. | Severe neurodevelopmental disease caused by a homozygous TLK2 variant | 2020 |
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Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath
| Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG | 2020 |
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Dr Katherine Johnson Dr Ana Topf Professor Jordi Diaz Manera Professor Volker Straub
| POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy | 2019 |
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Dr Katherine Johnson Dr Ana Topf Professor Volker Straub
| ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure | 2019 |
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Dr Ana Topf Dr Katherine Johnson Professor Volker Straub
| Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein | 2019 |
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Sunitha Balaraju Dr Ana Topf Dr Grace McMacken Professor Robert Taylor Professor Rita Horvath et al. | Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant | 2019 |
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Dr Ana Topf
| Dihydropyridine Receptor Congenital Myopathy in A Consangineous Turkish Family | 2019 |
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Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr James Miller et al. | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population | 2019 |
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Gabriella-Denisa Hathazi Professor Rita Horvath Dr Ana Topf
| Identification of cellular pathogenicity markers for SIL1 mutations linked to marinesco-sjögren syndrome | 2019 |
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Rachel Thompson Dr Ana Topf Professor Paolo Missier Professor Hanns Lochmuller
| Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder | 2019 |
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Dr Ana Topf
| MACF1 links rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses | 2019 |
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Dr Ana Topf Professor Volker Straub
| Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES | 2019 |
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Dr Katherine Johnson Dr Ana Topf Professor Volker Straub Dr Teresinha Evangelista
| SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain | 2019 |
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Dr Lizzie Harris Professor Chiara Marini Bettolo Dr Ana Topf Dr Rita Barresi Dr Tuomo Polvikoski et al. | MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes | 2018 |
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Dr Ana Topf Professor Hanns Lochmuller
| A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome | 2018 |
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Dr Ana Topf Professor Volker Straub Professor Jordi Diaz Manera
| A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement | 2018 |
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Dr Katherine Johnson Dr Ana Topf Professor Volker Straub
| A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair | 2018 |
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Emily O'Connor Dr Ana Topf Dr Sally Spendiff Daniel Cox Dr Andreas Roos et al. | Clinical and research strategies for limb-girdle congenital myasthenic syndromes | 2018 |
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Dr Katherine Johnson Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr Ana Topf Roberto Fernandez-Torron et al. | Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness | 2018 |
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Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub
| Limb girdle muscular dystrophy due to mutations in POMT2 | 2018 |
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Dr David Owen Dr Ana Topf Daniel Cox Dr Teresinha Evangelista John Dawson et al. | Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness | 2018 |
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Matthieu Miossec Professor Heather Cordell Dr Lou Sutcliffe Dr Ana Topf Dr John O'Sullivan et al. | Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot | 2018 |
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Dr Hadil Alrohaif Dr Ana Topf Dr Teresinha Evangelista Professor Hanns Lochmuller
| Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome | 2018 |
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Dr Katherine Johnson Lauren Phillips Dr Ana Topf Professor Volker Straub
| A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy | 2017 |
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Dr Lizzie Harris Dr Ana Topf Dr Rita Barresi Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al. | A 'second truncation' in TTN causes early onset recessive muscular dystrophy | 2017 |
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Dr Lizzie Harris Dr Umar Burki Professor Chiara Marini Bettolo Dr Marta Bertoli Dr Teresinha Evangelista et al. | Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains | 2017 |
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Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub
| Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046] | 2017 |
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Dr Lizzie Harris Dr Ana Topf Dr Rita Barresi Dr Debbie Hicks Dr Anna Porter et al. | Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy | 2017 |
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Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Phillips Professor Volker Straub et al. | Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness | 2017 |
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Dr Ana Topf Professor Volker Straub
| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing | 2017 |
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Dr Yoshiteru Azuma Dr Ana Topf Dr Teresinha Evangelista Dr Paulo Lorenzoni Dr Andreas Roos et al. | Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes | 2017 |
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Dr Ana Topf Professor Jordi Diaz Manera Dr Nuria Muelas Gomez Dr Teresinha Evangelista Dr Yoshiteru Azuma et al. | Molecular characterization of congenital myasthenic syndromes in Spain | 2017 |
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Dr Lizzie Harris Dr Rita Barresi Professor Chiara Marini Bettolo Dr Ana Topf Professor Volker Straub et al. | Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion | 2017 |
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Dr Juliane Mueller Dr Teresinha Evangelista Dr Ana Topf Professor Hanns Lochmuller
| KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors | 2016 |
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Dr Katherine Johnson Lauren Phillips Dr Ana Topf Professor Volker Straub
| A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy | 2016 |
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Dr Ana Topf Dr Jelena Nikodinovic Glumac Dr Marta Bertoli Dr Katherine Johnson Lauren Phillips et al. | A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort | 2016 |
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Dr Ana Topf Emerita Professor Katherine Bushby Professor Volker Straub
| Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement | 2016 |
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Dr Katherine Johnson Dr Marta Bertoli Lauren Phillips Dr Ana Topf Professor Volker Straub et al. | Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations | 2016 |
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Dr Ana Topf Dr Katherine Johnson Professor Volker Straub
| Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy | 2016 |
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Emily O'Connor Dr Ana Topf Dr Juliane Mueller Daniel Cox Dr Teresinha Evangelista et al. | Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome | 2016 |
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Lauren Phillips Dr Ana Topf Dr Katherine Johnson Dr Marta Bertoli Professor Volker Straub et al. | Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing | 2016 |
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Dr Yoshiteru Azuma Dr Grace McMacken Dr Ana Topf Professor Hanns Lochmuller
| Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea | 2016 |
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Dr Ana Topf Dr Katherine Johnson Professor Volker Straub
| Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings | 2016 |
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Dr Teresinha Evangelista Dr Ana Topf Professor Hanns Lochmuller
| Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations | 2016 |
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Sebastian Figueroa Bonaparte Dr Rita Barresi Dr Tuomo Polvikoski Dr Timothy Williams Dr Ana Topf et al. | Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK | 2016 |
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Dr Katherine Johnson Dr Marta Bertoli Lauren Phillips Dr Ana Topf Professor Volker Straub et al. | The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin | 2016 |
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Dr Marta Bertoli Dr Ana Topf Dr Lizzie Harris Dr Steven Laval Dr Anna Sarkozy et al. | A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism | 2015 |
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Professor Judith Goodship Matthieu Miossec Dr Danielle Brown Dr Ian Wilson Dr Lou Sutcliffe et al. | Analysis of rare variants and CNVs in non-syndromic tetralogy of Fallot | 2015 |
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Dr Ana Topf Professor Judith Goodship
| Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development | 2015 |
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Dr Lizzie Harris Dr Ana Topf Professor Volker Straub
| Clinical data and MRI findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations | 2015 |
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Dr Richard Howey Valentina Mamasoula Dr Ana Topf Professor Judith Goodship Professor Bernard Keavney et al. | Increased power for detection of parent-of-origin effects via the use of haplotype estimation | 2015 |
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Dr Richard Howey Valentina Mamasoula Dr Ana Topf Professor Judith Goodship Professor Bernard Keavney et al. | Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation | 2015 |
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Dr Ana Topf Dr Teresinha Evangelista Professor Hanns Lochmuller
| Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect | 2014 |
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Dr Ana Topf Dr Helen Griffin Dr Elise Glen Rachel Soemedi Dr Danielle Brown et al. | Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot | 2014 |
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Matthieu Miossec Raf Hussain Dr Thahira Rahman Dr Ana Topf Dr Mauro Santibanez Koref et al. | Investigating the cause of transposition of great arteries; exome sequencing analysis | 2014 |
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Dr Amina Chaouch Daniel Cox Dr Steven Laval Dr Helen Griffin Dr Teresinha Evangelista et al. | Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission | 2014 |
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Dr Elise Glen Dr Ana Topf Professor Judith Goodship
| A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti | 2013 |
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Valentina Mamasoula Dr Tomasz Pierscionek Dr Darroch Hall Dr Ana Topf Dr Danielle Brown et al. | Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls | 2013 |
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Professor Heather Cordell Dr Ana Topf Valentina Mamasoula Dr Rebecca Darlay Rachel Soemedi et al. | Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot | 2013 |
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Professor Heather Cordell Dr Ana Topf Valentina Mamasoula Rachel Soemedi Dr Ruairidh Martin et al. | Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 | 2013 |
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Addison Palomino Doza Dr Ana Topf Dr John O'Sullivan Professor Caroline Relton Professor Judith Goodship et al. | Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot | 2013 |
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Professor Judith Goodship Dr Darroch Hall Dr Ana Topf Valentina Mamasoula Dr Helen Griffin et al. | A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot | 2012 |
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Valentina Mamasoula Dr Tomasz Pierscionek Dr Ana Topf Dr Thahira Rahman Dr John O'Sullivan et al. | Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From "Mendelian Randomisation" And Meta-Analysis | 2012 |
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Rachel Soemedi Dr Ian Wilson Dr Rebecca Darlay Dr Ana Topf Dr Simon Zwolinski et al. | Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease | 2012 |
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Dr Ana Topf Professor Judith Goodship Professor Deborah Henderson Dr John O'Sullivan Professor Bernard Keavney et al. | Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to congenital heart disease | 2012 |
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Dr Elise Glen Dr Ana Topf Dr Darroch Hall Dr John O'Sullivan Linda Sneddon et al. | Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation | 2012 |
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Rachel Soemedi Dr Ana Topf Dr Ian Wilson Dr Rebecca Darlay Dr Thahira Rahman et al. | Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls | 2012 |
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Valentina Mamasoula Dr Tomasz Pierscionek Addison Palomino Doza Dr Ana Topf Dr Thahira Rahman et al. | Aetiological role of folate deficiency in congenital heart disease: evidence from Mendelian randomisation and meta-analysis | 2011 |
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Dr Elise Glen Dr Ana Topf Dr Darroch Hall Dr John O'Sullivan Linda Sneddon et al. | Non-synonymous SMAD6 mutations impaired inhibition of BMP signalling in patients with congenital cardiovascular malformation | 2011 |
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Dr Ana Topf Professor Bernard Keavney Professor Judith Goodship
| 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia | 2010 |
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Dr Helen Griffin Dr Ana Topf Dr Elise Glen Dr John O'Sullivan Professor Sir John Burn et al. | Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants | 2010 |
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Dr Ana Topf Professor Bernard Keavney Professor Judith Goodship
| 22q11 Deletions in Adults With Tetralogy of Fallot Are Highly Under Recognized | 2009 |
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Dr Helen Griffin Dr Darroch Hall Dr Ana Topf James Eden Professor Sir John Burn et al. | Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation | 2009 |
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Angeline Tan Dr Ana Topf Dr Helen Griffin Raf Hussain James Eden et al. | Role of Genetic Variation in the Transcriptional Inhibitor Protein SMAD6 in the Predispoition to Congenital Cardiovascular Malformation | 2009 |
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