Publications by Dr Ana Topf - ePrints

Browsing publications by Dr Ana Topf.

Newcastle Authors	Title	Year
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
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
Professor Volker Straub Dr Ana Topf	Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy	2024
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
Dr Ana Topf	Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series	2024
Dr Ana Topf	Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes	2024
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
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
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
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
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
Dr Ana Topf	Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases	2023
Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al.	The John Walton Muscular Dystrophy Research Centre Biobank	2023
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
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
Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath Dr Andreas Roos	Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects	2022
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
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
Professor Michael Hanna Dr Ana Topf Professor Volker Straub	A form of muscular dystrophy associated with pathogenic variants in JAG2	2021
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
Sunitha Balaraju Dr Ana Topf Professor Rita Horvath	Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease	2021
Dr Ana Topf	Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis	2021
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
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
Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath Dr Andreas Roos	Molecular pathophysiology of human MICU1 deficiency	2021
Professor Hanns Lochmuller Dr Ana Topf Professor Rita Horvath	COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children	2020
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
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
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
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
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
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
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
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
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
Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath	Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG	2020
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
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
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
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
Dr Ana Topf	Dihydropyridine Receptor Congenital Myopathy in A Consangineous Turkish Family	2019
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
Gabriella-Denisa Hathazi Professor Rita Horvath Dr Ana Topf	Identification of cellular pathogenicity markers for SIL1 mutations linked to marinesco-sjögren syndrome	2019
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
Dr Ana Topf	MACF1 links rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses	2019
Dr Ana Topf Professor Volker Straub	Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES	2019
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
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
Dr Ana Topf Professor Hanns Lochmuller	A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome	2018
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
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
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
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
Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub	Limb girdle muscular dystrophy due to mutations in POMT2	2018
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
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
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
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
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
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
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
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
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
Dr Ana Topf Professor Volker Straub	Improving genetic diagnosis in Mendelian disease with transcriptome sequencing	2017
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
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
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
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
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
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
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
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
Dr Ana Topf Dr Katherine Johnson Professor Volker Straub	Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy	2016
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
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
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
Dr Ana Topf Dr Katherine Johnson Professor Volker Straub	Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings	2016
Dr Teresinha Evangelista Dr Ana Topf Professor Hanns Lochmuller	Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations	2016
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
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
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
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
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
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
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
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
Dr Ana Topf Dr Teresinha Evangelista Professor Hanns Lochmuller	Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect	2014
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
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
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
Dr Elise Glen Dr Ana Topf Professor Judith Goodship	A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti	2013
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Dr Ana Topf Professor Bernard Keavney Professor Judith Goodship	22q11 Deletions in Adults With Tetralogy of Fallot Are Highly Under Recognized	2009
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
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