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List of works by Alan H. Beggs

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands

scientific article published in November 2004

A Cross-Sectional Study of Nemaline Myopathy

scientific article published on 04 January 2021

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

scientific article published in April 1999

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

scientific article

A curated gene list for reporting results of newborn genomic sequencing.

scientific article published on 12 January 2017

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

scientific article published on 17 November 2017

A natural history study of X-linked myotubular myopathy

scientific article published on 25 August 2017

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

scientific article published on September 2016

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

scientific article published in April 1990

A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin

scientific article published on September 1995

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish

scientific article

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

scientific article

ACTN3 genotype is associated with human elite athletic performance

scientific article

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

scientific article published on March 2017

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

scientific article published on 01 May 2020

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

scientific article published on 27 December 2019

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

scientific article

Acute appendicitis is characterized by a uniform and highly selective pattern of inflammatory gene expression

scientific article published on July 2008

Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions

scientific article published on 01 October 1992

Adult-onset nemaline myopathy and monoclonal gammopathy.

scientific article

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

scientific article

Altered translation of GATA1 in Diamond-Blackfan anemia

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

scientific article published on 26 June 2018

Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays

scientific article

Approach to the diagnosis of congenital myopathies

scientific article

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

scientific article

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

scientific article

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

scientific article published on 20 July 2017

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy

scientific article

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

scientific article

Children's rare disease cohorts: an integrative research and clinical genomics initiative

scientific article published on 06 July 2020

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

scientific article published on 05 December 2018

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

scientific article published on 22 September 2015

Clinical utility gene card for: Centronuclear and myotubular myopathies

scientific article

Competitive binding of alpha-actinin and calmodulin to the NMDA receptor

scientific article

Congenital Fiber-Type Disproportion

scientific article published on 11 April 2013

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

scientific article

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

scientific article

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

scientific article published on 25 April 2018

Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

scientific article published on 01 February 2020

Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.

scientific article

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

scientific article published on 13 November 2018

Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy

scientific article published on 01 August 1996

Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance

scientific article published in February 2003

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

scientific article published on 28 May 2013

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.

scientific article

Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice

scientific article

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores ⬇️

scientific article published on July 19, 2012

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

scientific article published on February 2017

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

scientific article published on 12 January 2018

Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis

scientific article published on 01 January 1992

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.

scientific article published on 28 April 2015

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

scientific article published on 9 January 2013

Evidence by molecular profiling for a placental origin of infantile hemangioma

scientific article

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

scientific article

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

scientific article

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

scientific article

Expanding the phenotypic spectrum associated with OPHN1 variants

scientific article published on 28 June 2018

Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study

scientific article

Expression of the myelin basic protein gene in transgenic mice expressing human neurotropic virus, JCV, early protein

scientific article

Expression profiling and identification of novel genes involved in myogenic differentiation.

scientific article published on 19 December 2003

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

scientific article published on 10 December 2019

Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.

scientific article published on June 2009

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

scientific article

Functional muscle analysis of the Tcap knockout mouse.

scientific article

Gait characteristics in a canine model of X-linked myotubular myopathy

scientific article

Gene expression profiling of Duchenne muscular dystrophy skeletal muscle

scientific article published on 16 April 2003

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs

scientific article published on October 2015

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

scientific article

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

scientific article

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

article

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

scientific article published in July 2004

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

scientific article

Human pituitary adenomas show no loss of heterozygosity at the retinoblastoma gene locus

scientific article published in April 1994

Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo

scientific article

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice ⬇️

scientific article published on February 1, 2011

Kelch proteins: emerging roles in skeletal muscle development and diseases.

scientific article

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 02 January 2015

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy

scientific article published on 29 March 2017

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish

scientific article (publication date: June 2013)

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers ⬇️

scientific article published on August 3, 2010

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing

scientific article published on 01 August 2019

Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion

scientific article

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

scientific article published on 7 November 2011

Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression

scientific article

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

scientific article published on 04 September 2019

Multiminicore Disease

scientific article published on 24 January 2013

Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome ⬇️

scientific article published on March 1, 1998

Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.

scientific article

Multiplex PCR for identifying DMD gene deletions.

scientific article published on May 2006

Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.

scientific article published on 7 October 2016

Muscle function in A canine model of X‐linked myotubular myopathy ⬇️

scientific article published on October 1, 2012

Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy

scientific article

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

scientific article

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

scientific article published on 28 October 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

scientific article (publication date: July 2014)

Mutation update: the spectra of nebulin variants and associated myopathies

scientific article

Mutation-specific effects on thin filament length in thin filament myopathy

scientific article published on 13 April 2016

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

scientific article

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Mutations in dynamin 2 cause dominant centronuclear myopathy

scientific article

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

scientific article

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

scientific article

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

scientific article

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

scientific article

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines

scholarly article

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

scientific article

Nemaline myopathy: a clinical study of 143 cases

scientific article (publication date: September 2001)

Newborn Sequencing in Genomic Medicine and Public Health

scientific article

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

scientific journal article

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians

scientific article published on 08 February 2020

Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure

scientific article

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

scientific article published on 30 June 2013

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

scientific article published on 26 September 2016

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy ⬇️

scientific article published on June 20, 2011

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

scientific article

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

scientific article published on 11 December 2018

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

scientific article

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

scientific article published on 16 February 2016

Phenotypic Spectrum of<i>DNM2</i>-Related Centronuclear Myopathy

scientific article published in 2022

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy

scientific article published on 01 November 1992

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

scientific article published in October 2004

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

scientific article published on 8 March 2018

Reactivation of X-linked genes in human fibroblasts transformed by origin-defective SV40.

scientific article published in November 1986

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

scientific article published on 23 August 2013

Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

article by Jaclyn B Murry et al published August 2018 in Cold Spring Harbor molecular case studies

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

scientific article

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

scientific article

Rod distribution and muscle fiber type modification in the progression of nemaline myopathy

scientific article published on 01 March 2003

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures

scientific article published on 28 July 2016

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy

scientific article

SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling

scientific article published on 01 May 2018

Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling

scientific article published on 01 January 2021

Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines

scientific article published on 01 April 2018

Selenoprotein N deficiency in mice is associated with abnormal lung development ⬇️

scientific article published on January 16, 2013

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials

scientific article published on 10 October 2020

Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population

scientific article

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

scientific article

Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.

scientific article published on 11 November 2004

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

scientific article

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration

scientific article published on 13 April 2015

Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations

scientific article published on 01 October 1999

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

scientific article published on 22 February 2017

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

scholarly article

Telethonin protein expression in neuromuscular disorders

scientific article (publication date: 9 October 2002)

The BabySeq project: implementing genomic sequencing in newborns

article by Ingrid A Holm et al published 9 July 2018 in BMC Pediatrics

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

scientific article published on 04 September 2019

The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy

scientific article published on 01 December 1997

The influence of muscle type and dystrophin deficiency on murine expression profiles

scientific article published on 29 October 2005

The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.

scientific article

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

scientific article

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

scientific article

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

scientific article published on 04 April 2009

Tissue triage and freezing for models of skeletal muscle disease.

scientific article

Transcriptional profile of postmortem skeletal muscle

scientific article published on 15 January 2004

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.

scientific article published on 18 April 2016

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

scientific article

Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis.

scientific article published on November 2007

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy

scientific article

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

scientific article published on 16 March 2021

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

scientific article published on 12 April 2019

Variations in gene expression among different types of human skeletal muscle

scientific article published on 01 October 2005

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome

scientific article published on 17 March 2015

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

scientific article

alpha-actinin-2 is a new component of the dystrophin-glycoprotein complex.

scientific article

α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.

scientific article published on 17 January 2012

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