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Browsing publications by Dr Ana Topf.

Newcastle AuthorsTitleYearFull text
Dr Ana Topf
Dr Teresinha Evangelista
Professor Volker Straub
Professor John-Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy2022
Dr Ana Topf
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement2022
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects2022
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 1A2021
Professor Michael Hanna
Dr Ana Topf
Professor Volker Straub
A form of muscular dystrophy associated with pathogenic variants in JAG22021
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 patients2021
Sunitha Balaraju
Dr Ana Topf
Professor Rita Horvath
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease2021
Dr Ana Topf
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 10.1038/s41431-021-00900-2)2021
Dr Ana Topf
Professor Volker Straub
Dr 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 deficiency2021
Professor Hanns Lochmuller
Dr Ana Topf
Professor Rita Horvath
COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children2020
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 pattern2020
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 features2020
Professor Volker Straub
Dr Ana Topf
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity2020
Benjamin Munro
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families2020
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 FLNC2020
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 R92020
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 Myopathies2020
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 weakness2020
Dr Ana Topf
Sunitha Balaraju
Rachel Thompson
Dr Andreas Roos
Professor Hanns Lochmuller
et al.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant2020
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG2020
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy2019
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure2019
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 protein2019
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 variant2019
Dr Ana Topf
Dihydropyridine Receptor Congenital Myopathy in A Consangineous Turkish Family2019
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 population2019
Gabriella-Denisa Hathazi
Professor Rita Horvath
Dr Ana Topf
Identification of cellular pathogenicity markers for SIL1 mutations linked to marinesco-sjögren syndrome2019
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 disorder2019
Dr Ana Topf
MACF1 links rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses2019
Dr Ana Topf
Professor Volker Straub
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES2019
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 domain2019
Dr Lizzie Harris
Dr 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 phenotypes2018
Dr Ana Topf
Professor Hanns Lochmuller
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome2018
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 involvement2018
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 pair2018
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 syndromes2018
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 weakness2018
Dr Katherine Johnson
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Professor Volker Straub
Limb girdle muscular dystrophy due to mutations in POMT22018
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 weakness2018
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 Fallot2018
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 syndrome2018
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 dystrophy2017
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 dystrophy2017
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
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 Dystrophy2017
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 weakness2017
Dr Ana Topf
Professor Volker Straub
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing2017
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 syndromes2017
Dr Ana Topf
Dr Nuria Muelas Gomez
Dr Teresinha Evangelista
Dr Yoshiteru Azuma
Dr Grace McMacken
et al.
Molecular characterization of congenital myasthenic syndromes in Spain2017
Dr Lizzie Harris
Dr Rita Barresi
Dr Chiara Marini Bettolo
Dr Ana Topf
Professor Volker Straub
et al.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion2017
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 inhibitors2016
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 dystrophy2016
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 cohort2016
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 involvement2016
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 mutations2016
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy2016
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 syndrome2016
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 sequencing2016
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 Apnea2016
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings2016
Dr Teresinha Evangelista
Dr Ana Topf
Professor Hanns Lochmuller
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations2016
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 UK2016
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 origin2016
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 symphalangism2015
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 Fallot2015
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 Development2015
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 mutations2015
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 estimation2015
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 Estimation2015
Dr Ana Topf
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect2014
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 Fallot2014
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 analysis2014
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 Transmission2014
Dr Elise Glen
Dr Ana Topf
Professor Judith Goodship
A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti2013
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 Controls2013
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 Fallot2013
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 4p162013
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 Fallot2013
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 Fallot2012
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-Analysis2012
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 Disease2012
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 disease2012
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 malformation2012
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 controls2012
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-analysis2011
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 malformation2011
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 atresia2010
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 variants2010
Dr Ana Topf
Professor Bernard Keavney
Professor Judith Goodship
22q11 Deletions in Adults With Tetralogy of Fallot Are Highly Under Recognized2009
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 malformation2009
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 Malformation2009