A. Töpf

发表

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Marc Gewillig, Rachel Soemedi, Koenraad Devriendt, 2012, American journal of human genetics.

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

P. Missier, S. Beltran, Hanns Lochmüller, 2019, Human mutation.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

T. Crawford, C. Bruno, E. Zanoteli, 2021, Brain : a journal of neurology.

A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A

V. Straub, S. Specht, R. Barresi, 2021, Neuromuscular Disorders.

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

K. Claeys, L. Medne, C. Bönnemann, 2020, Acta Neuropathologica.

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

S. Dunin-Horkawicz, A. Kaminska, V. Straub, 2019, Scientific Reports.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

H. Cordell, B. Keavney, J. Goodship, 2015, American journal of human genetics.

Hanns Lochmüller, H. Lochmüller, C. Ortez, 2016, Journal of Neurology.

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Julius O. B. Jacobsen, Orion J. Buske, D. Smedley, 2022, Human mutation.

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

I. Illa, E. Gallardo, V. Straub, 2018, Neuromuscular Disorders.

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

P. Scambler, H. Cordell, B. Keavney, 2010, Heart.

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Hanns Lochmüller, R. Horvath, A. Sickmann, 2021, The Journal of pathology.

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

K. Bushby, Hanns Lochmüller, M. Farrugia, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

P. Chinnery, H. Lochmüller, R. Horvath, 2021, Brain : a journal of neurology.

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

B. Keavney, J. Goodship, A. G. Stuart, 2014, PloS one.

Abstract 1772: 22q11 Deletions in Adults With Tetralogy of Fallot Are Highly Under Recognized

A. Moorman, B. Mulder, B. Keavney, 2009 .

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

K. Bushby, Hanns Lochmüller, A. Ferlini, 2017, Neuromuscular Disorders.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

H. Lochmüller, T. Evangelista, J. Colomer, 2016, Neuromuscular Disorders.

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

D. MacArthur, H. Lochmüller, R. Horvath, 2019, European Journal of Human Genetics.

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC

A. Sickmann, P. F. van der Ven, D. Fürst, 2020, Human mutation.

Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene

H. Lochmüller, D. Beeson, C. Rodolico, 2020, Neuromuscular Disorders.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Jacqueline Palace, S. Banka, E. Zanoteli, 2019 .

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

Hanns Lochmüller, R. Horvath, G. Diniz, 2019, Journal of neuromuscular diseases.

S. Beltran, H. Lochmüller, R. Horvath, 2020, Neurology: Genetics.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Robert W. Taylor, H. Lochmüller, R. Horvath, 2019, European Journal of Human Genetics.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

C. Ortez, Miroslav P. Milev, M. Sacher, 2019, Scientific Reports.

Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease

D. Zafeiriou, M. Mroczek, V. Straub, 2020, Neuropediatrics.

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

H. Lochmüller, R. Horvath, M. Faruq, 2021, neurogenetics.

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

M. Lek, D. Macarthur, R. Wevers, 2016, Neuromuscular Disorders.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population

D. MacArthur, M. Lek, Hanns Lochmüller, 2017, European Journal of Human Genetics.

Molecular pathophysiology of human MICU1 deficiency

T. Eggermann, H. Lochmüller, R. Horvath, 2021, Neuropathology and applied neurobiology.

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis

H. Lochmüller, Rachel Thompson, E. Zanoteli, 2021, European journal of neurology.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

H. True, G. Ravenscroft, N. Laing, 2022, bioRxiv.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

H. Lochmüller, W. Marques, E. Zanoteli, 2018, Journal of Neurology.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

B. Bender, R. Schüle, L. Schöls, 2020, Journal of neuromuscular diseases.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

K. Bushby, A. De Grassi, Jacqueline A Palace, 2016, Journal of neuromuscular diseases.

Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.

J. Rosenfeld, B. Keavney, J. Goodship, 2015, Congenital heart disease.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Jacqueline A Palace, S. Banka, E. Zanoteli, 2019, Brain : a journal of neurology.

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

S. Heath, G. Lathrop, A. Moorman, 2013, Human molecular genetics.

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2020, Human mutation.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

D. MacArthur, I. Vernos, S. Beltran, 2020, iScience.

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

T. Hornemann, Sita D Gupta, K. Gable, 2021, Nature Medicine.

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

J. Vissing, M. Duno, P. Sarathchandra, 2019, Annals of neurology.

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

Robert W. Taylor, H. Lochmüller, G. Falkous, 2020, Neuromuscular Disorders.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

M. Gut, I. Gut, S. Beltran, 2018, American journal of medical genetics. Part A.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

M. Lek, Hanns Lochmüller, T. Evangelista, 2018, Neurology: Genetics.

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

D. MacArthur, M. Lek, K. Claeys, 2018, Skeletal Muscle.

Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study

F. Zimprich, W. Löscher, N. Embacher, 2022, European journal of neurology.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

H. Lochmüller, J. Senderek, S. Laval, 2016, Brain : a journal of neurology.

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation

L. Eichinger, A. Azmi, A. Hofmann, 2019, Neurology.

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency

G. Caravias, V. Straub, K. Visuttijai, 2019, Neuromuscular Disorders.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

B. Asselbergh, I. Nelson, A. Boland, 2019, Neurology: Genetics.

FSHD type 2 and Bosma arhinia microphthalmia syndrome

S. Tapscott, J. Graham, H. Brand, 2018, Neurology.

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

B. Keavney, J. Goodship, C. Wren, 2012, Human mutation.

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

Gary Saunders, R. Horvath, M. Freeberg, 2023, Cell genomics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

H. Lochmüller, T. Neubert, A. Töpf, 2019, The Journal of cell biology.

Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with ‘unexplained’ limb-girdle muscular weakness

H. Lochmüller, L. Werneck, A. Töpf, 2020, Journal of Clinical Neuroscience.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls Running title: Mamasoula: MTHFR C677T polymorphism and congenital heart disease

G. Lathrop, M. Farrall, D. Zélénika, 2017 .

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

G. Lathrop, M. Farrall, A. Moorman, 2013, Circulation. Cardiovascular genetics.

Association between C 677 T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease : Meta-Analysis of 7 , 697 Cases and 13 , 125 Controls Running title : Mamasoula : MTHFR C 677 T polymorphism and congenital heart disease

Faith, G. Lathrop, D. Zélénika, 2013 .

Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)

M. Mroczek, H. Najmabadi, F. Fatehi, 2020, European journal of neurology.

The phenotypic and genotypic features of a Scottish cohort with McArdle disease

M. Farrugia, R. Quinlivan, V. Straub, 2021, Neuromuscular Disorders.

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

R. Rojas-García, I. Illa, V. Straub, 2021, Neuromuscular Disorders.

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Y. Parman, M. Mroczek, V. Straub, 2020, Genes.

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

D. MacArthur, M. Lek, C. Wallgren‐Pettersson, 2018, Neuromuscular Disorders.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

D. MacArthur, M. Lek, T. Mongini, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

D. MacArthur, M. Lek, K. Claeys, 2017, Orphanet Journal of Rare Diseases.

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

H. Lochmüller, R. Horvath, A. Sickmann, 2022, Orphanet Journal of Rare Diseases.

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

D. MacArthur, M. Mroczek, S. Cooper, 2020, Neuromuscular Disorders.

Molecular characterization of congenital myasthenic syndromes in Spain

J. Senderek, D. Beeson, T. Evangelista, 2017, Neuromuscular Disorders.

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

C. Gatz, R. Horvath, J. Weis, 2019, Front. Neurol..

Clinical and research strategies for limb‐girdle congenital myasthenic syndromes

Hanns Lochmüller, R. Zahedi, A. Töpf, 2018, Annals of the New York Academy of Sciences.

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

Hanns Lochmüller, R. Horvath, H. Kölbel, 2021, American journal of medical genetics. Part A.

OD11 The MYO-SEQ project: application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin

M. Lek, D. Macarthur, H. Lochmüller, 2017, Neuromuscular Disorders.

Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis

Hanns Lochmüller, L. Werneck, A. Töpf, 2020, Arquivos de Neuro-Psiquiatria.

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

S. Heath, G. Lathrop, M. Farrall, 2013, Nature Genetics.

P. Scambler, H. Cordell, B. Keavney, 2010, Heart.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

M. Reilly, E. Bertini, G. Tasca, 2023, Neuromuscular Disorders.

K. Bushby, Hanns Lochmüller, V. Straub, 2018, Neuromuscular Disorders.

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

H. Kurahashi, Hanns Lochmüller, T. Evangelista, 2017, Neurology: Genetics.

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

R. Horvath, U. Yiş, A. Töpf, 2020, Brain and Development.

Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7697 Cases and 13 125 Controls

M. Farrall, K. Devriendt, D. Zélénika, 2013, Circulation. Cardiovascular genetics.

Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.

E. Zanoteli, A. Hentschel, Y. Azuma, 2023, Journal of neurology.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Neuromuscular disease genetics in under-represented populations: increasing data diversity

K. Thangaraj, P. Chinnery, S. Efthymiou, 2023, Brain : a journal of neurology.

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

M. Azkargorta, F. Elortza, A. Töpf, 2024, Brain : a journal of neurology.

Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy

M. Lek, K. Claeys, D. Macarthur, 2018 .

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

H. Cordell, B. Keavney, J. Goodship, 2015, American journal of human genetics.