A. Beggs

Voichita D. Marinescu, I. Kohane, M. Ramoni, 2004, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

The BabySeq project: implementing genomic sequencing in newborns

R. Green, H. Rehm, S. Waisbren, 2018, BMC Pediatrics.

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Larry N. Singh, Timothy L. Tickle, Noor B. Dawany, 2019, Developmental cell.

Developmental Cell Perspective The Pediatric Cell Atlas : Defining the Growth Phase of Human Development at Single-Cell Resolution

Timothy L. Tickle, Deanne M. Taylor, Jo Lynne Rokita, 2022 .

Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project

R. Green, S. Waisbren, A. McGuire, 2018, Genetics in Medicine.

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

Frank B Sachse, Alan H Beggs, Michael C Sanguinetti, 2005, Proceedings of the National Academy of Sciences of the United States of America.

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

Bertil Glader, P. Newburger, A. Beggs, 2012, Human mutation.

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

P. Newburger, A. Beggs, M. O'Donohue, 2013, Human Genetics.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

X-Linked Myotubular and Centronuclear Myopathies

A. Beggs, C. Pierson, P. Agrawal, 2005, Journal of neuropathology and experimental neurology.

Distinctive patterns of microRNA expression in primary muscular disorders

Isaac S. Kohane, Alan H. Beggs, Alal Eran, 2007, Proceedings of the National Academy of Sciences.

Molecular genetics of long-QT syndrome.

A. Beggs, D. Wattanasirichaigoon, 1998, Current opinion in pediatrics.

Withdrawn Article

Niklas Smedemark-Margulies, C. Brownstein, W. Gahl, 2019, Molecular Genetics and Metabolism Reports.

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

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

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

G. Ravenscroft, L. Swanson, A. Beggs, 2014, American journal of human genetics.

The Genetic Landscape of Diamond-Blackfan Anemia

Beryl B. Cummings, Jacob C. Ulirsch, Michael H. Guo, 2018, bioRxiv.

The Genetic Landscape of Diamond-Blackfan Anemia

S. Gabriel, R. Handsaker, E. Lander, 2018, bioRxiv.

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

W. Wiktor-Jedrzejczak, J. Zaucha, A. Beggs, 2004, British journal of haematology.

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

I. Kohane, A. Kho, S. Greenberg, 2004, Neurobiology of Disease.

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

C. Brownstein, A. Beggs, P. Pearl, 2016, Pediatric neurology.

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

S. Coppens, E. Pierce-Hoffman, L. Servais, 2019, Annals of neurology.

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

A. Buj-Bello, A. Beggs, J. Mandel, 2009, Proceedings of the National Academy of Sciences.

Cloning and Characterization of Two Human Skeletal Muscle 0-actinin Genes Located on Chromosomes 1 and 11*

L. Kunkel, G. Bruns, A. Beggs, 2022 .

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

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular disorders : NMD.

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

L. Kunkel, A. Beggs, L. Kunkel, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

Keith Marsolo, In-Hee Lee, Bria Morgan, 2019, Genetics in Medicine.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Molecular Pathogenesis of Genetic and Inherited Diseases Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice

A. Buj-Bello, A. Beggs, C. Pierson, 2011 .

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

R. Fitts, E. Hardeman, R. Hoffmann, 2016, The American journal of pathology.

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

Simon C Watkins, A. Beggs, A H Beggs, 1999, Archives of biochemistry and biophysics.

Human Skeletal Muscle-Specific α-Actinin-2 and -3 Isoforms Form Homodimers and Heterodimersin Vitroandin Vivo

L. Kunkel, A. Beggs, H. Tong, 1998 .

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

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

Sarcomeres regulate cardiomyocyte maturation through MRTF-SRF signaling

Guocheng Yuan, W. Pu, A. Beggs, 2019, bioRxiv.

Clinical Phenotype of X‐Linked Myotubular Myopathy in Labrador Retriever Puppies

A. Beggs, G. Shelton, E. Snead, 2015, Journal of veterinary internal medicine.

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

A. Buj-Bello, A. Beggs, V. E. Kelly, 2014, Journal of the Neurological Sciences.

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.

R. Green, A. Beggs, R. Parad, 2020, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2009, Human mutation.

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

Jason E. Farrar, P. Meltzer, R. Arceci, 2008 .

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

R. Grange, L. Swanson, A. Beggs, 2014, Journal of visualized experiments : JoVE.

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

A. Kho, M. Ramoni, A. Beggs, 2006, Journal of Cell Science.

Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration

A. Beggs, S. Morton, P. Agrawal, 2015, PloS one.

Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations

Daniel E. Newburger, T. Crawford, A. Beggs, 2004 .

Clinical course correlates poorly with muscle pathology in nemaline myopathy

U. de Girolami, B. Ilkovski, A. Beggs, 2003, Neurology.

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

P. Dormitzer, V. Lehtokari, A. Beggs, 2007, American journal of human genetics.

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

B. Sanchez, A. Beggs, L. Kunkel, 2018, PloS one.

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

Simon C Watkins, L. Kunkel, D. V. Vander Woude, 2001, Proceedings of the National Academy of Sciences of the United States of America.

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

A. Buj-Bello, F. Walker, A. Beggs, 2014, Muscle & nerve.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

R. Weksberg, F. Muntoni, J. Dowling, 2022, Acta Neuropathologica.

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

A. Beggs, J. Glickman, B. Horwitz, 2008, Mucosal Immunology.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy

F. Muntoni, L. Servais, G. Rafferty, 2022, Journal of neuromuscular diseases.

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

A. Buj-Bello, P. Denéfle, A. Beggs, 2008, Human molecular genetics.

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

R. Kucherlapati, D. Ward, R. Kucherlapati, 1995, American journal of human genetics.

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

A. Beggs, K. North, 1996, Neuromuscular Disorders.

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

S. Easteal, A. Beggs, K. North, 1999, Nature genetics.

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

S. Kong, K. Parker, S. Greenberg, 2009, Muscle & nerve.

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

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling

Guocheng Yuan, W. Pu, A. Beggs, 2020, Proceedings of the National Academy of Sciences.

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

A. McGuire, A. Beggs, I. Holm, 2022, Frontiers in Genetics.

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Matthew S. Lebo, R. Green, H. Rehm, 2021, Genetics in Medicine.

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

S. Kingsmore, S. Brenner, J. Berg, 2019, NPJ genomic medicine.

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

S. Kingsmore, S. Brenner, J. Berg, 2019, npj Genomic Medicine.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species

A. Wagers, P. Sabeti, A. Beggs, 2021, Cell.

Cell type-specific expression of JC virus T antigen in primary and established cell lines from transgenic mice.

A. Beggs, J. Miner, G. Scangos, 1990, The Journal of general virology.

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

Robert C. Green, Matthew S. Lebo, Heidi L. Rehm, 2018, Cold Spring Harbor molecular case studies.

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

C. Brownstein, A. Beggs, S. Morton, 2017, Human molecular genetics.

Clinical, Genetic and Histopathologic Findings in Two Siblings with Muscle-Eye-Brain Disease

A. Beggs, E. Traboulsi, H. Gazda, 2002, European journal of ophthalmology.

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

R. Grange, A. Beggs, D. Mack, 2014, Science Translational Medicine.

Childers Canine Models of Myotubular Myopathy Gene Therapy Prolongs Survival and Restores Function in Murine and

R. Grange, A. Beggs, D. Mack, 2014 .

Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia

A. Beggs, D. Yuan, S. Kazerounian, 2019, Discoveries.

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

Meghan C Towne, A. Beggs, I. Holm, 2016, PloS one.

D. Glahn, L. Almasy, A. Alexander-Bloch, 2022, The American journal of psychiatry.

Extinction of JC virus tumor-antigen expression in glial cell--fibroblast hybrids.

A. Beggs, R. Frisque, G. Scangos, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy

A. Beggs, A. Lloyd, D. Bilder, 2021, Journal of neuromuscular diseases.

KBTBD13 is an actin-binding protein that modulates muscle kinetics.

Christopher N. Johnson, R. Bryson-Richardson, R. Rodenburg, 2020, The Journal of clinical investigation.

Congenital and Other Structural Myopathies

H. Goebel, J. Dowling, A. Beggs, 2015 .

Approach to the diagnosis of congenital myopathies

Ching H. Wang, J. Dowling, C. Bönnemann, 2014, Neuromuscular Disorders.

Approach to the diagnosis of congenital myopathies q

Ching H. Wang, J. Dowling, C. Bönnemann, 2014 .

Thin Filament Proteins: Nemaline and Related Congenital Myopathies

A. Beggs, M. Lawlor, 2013 .

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

K. Pelin, V. Lehtokari, C. Ottenheijm, 2011, Skeletal Muscle.

Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy

M. Zatz, A. Beggs, E. Zanoteli, 2003, Journal of child neurology.

Nemaline myopathy: A clinical study of 143 cases

A. Beggs, N. Laing, K. North, 2001, Annals of neurology.

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

U. de Girolami, A. Beggs, K. Markianos, 2014, JAMA neurology.

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

M. Main, F. Muntoni, A. Beggs, 2020, Annals of clinical and translational neurology.

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

Priya D. Duggal, A. Beggs, G. Wolff, 1999, American journal of medical genetics.

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

E. Haan, L. Kunkel, A. Beggs, 1992, American journal of human genetics.

Withdrawn Article

Niklas Smedemark-Margulies, C. Brownstein, W. Gahl, 2019, Astronomy & Astrophysics.

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

J. Dowling, A. Beggs, C. Pierson, 2012, Disease Models & Mechanisms.

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

Y. Hérault, K. Mathews, J. Dowling, 2019, Neuromuscular Disorders.

Genotype-Phenotype Correlation in the Long-QT Syndrome

G. Breithardt, S. Priori, A. Moss, 2001 .

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

A. Beggs, J. Towfighi, G. Miller, 1992, Neuromuscular Disorders.

Dystrophin analysis in idiopathic dilated cardiomyopathy.

L. Kunkel, D. Driscoll, A. Beggs, 1993, Journal of medical genetics.

Dystrophin is transcribed in brain from a distant upstream promoter.

L. Kunkel, A. Beggs, F. Boyce, 1991, Proceedings of the National Academy of Sciences of the United States of America.

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

A. Beggs, Vandana A Gupta, L. L. Smith, 2014, Human molecular genetics.

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

Ping Huang, A. Beggs, L. Kunkel, 2012, The American journal of pathology.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

A. Beggs, N. Romero, Hanns Lochmüller, 2005, Nature genetics.

Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy

A. Beggs, C. Genetti, B. Cowling, 2022, Neurology: Genetics.

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

A. Beggs, P. Agrawal, Mugdha A Joshi, 2012, Human molecular genetics.

Selenoproteins and their impact on human health through diverse physiological pathways.

A. Beggs, B. Moghadaszadeh, 2006, Physiology.

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

Meghan C Towne, J. Hirschhorn, C. Brownstein, 2015, The Journal of clinical endocrinology and metabolism.

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

A. Beggs, J. Widrick, C. Pierson, 2018, Human molecular genetics.

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

Daniel E. Newburger, T. Crawford, A. Beggs, 2004, Annals of neurology.

Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy.

A. Beggs, 1997, Circulation.

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

J. Dowling, A. Beggs, B. Schoser, 2016, Journal of neuropathology and experimental neurology.

Arrythmogenic Right Ventricular Dysplasia

Colin A. Johnson, T. Bourgeron, K. Lesch, 2016 .

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

L. Zon, A. Beggs, L. Kunkel, 2011, Human molecular genetics.

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

K. Bushby, F. Muntoni, C. Bönnemann, 2004, Neuromuscular Disorders.

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

J. D. Porter, A. Beggs, E. Engle, 1997, Annals of neurology.

Duchenne muscular dystrophy (Oxford monographs on medical genetics, Vol. 15) (revised edn): A.E.H. Emery, Oxford University Press, 1988. £17.50 (xv + 317 pages) ISBN 0 19 261798 2

L. Kunkel, E. Hoffman, A. Beggs, 1989 .

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

O. Ceyhan-Birsoy, A. Beggs, H. Topaloglu, 2017, Journal of clinical neuromuscular disease.

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

D. Gilliland, A. Beggs, L. Busque, 1994, The Journal of clinical endocrinology and metabolism.

Clinical utility gene card for: Centronuclear and myotubular myopathies

A. Beggs, N. Romero, I. Nishino, 2012, European Journal of Human Genetics.

Congenital Muscular Dystrophy Associated With Merosin Deficiency

A. Beggs, K. North, L. Specht, 1996, Journal of child neurology.

Mutations of the Genes for Ribosomal Proteins L5 and L11 Are a Common Cause of Diamond-Blackfan Anemia.

P. Newburger, A. Beggs, J. Lipton, 2007 .

Gene expression profiling of Duchenne muscular dystrophy skeletal muscle

Mei Han, Isaac S. Kohane, Despina Sanoudou, 2003, Neurogenetics.

Genetic Predisposition to Neurological Complications in Patients with COVID-19

A. Hoischen, M. Zody, A. Randolph, 2023, Biomolecules.

Evidence by molecular profiling for a placental origin of infantile hemangioma.

Gabriel S. Eichler, D. Ingber, Yuchun Guo, 2005, Proceedings of the National Academy of Sciences of the United States of America.

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Peter D. Currie, Alan H. Beggs, Leonard I. Zon, 2012, PloS one.

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

Melissa A. Kinney, L. Zon, G. Daley, 2017, Science Translational Medicine.

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

C. Bönnemann, A. Beggs, M. Gautel, 2017, Neuromuscular Disorders.

Gene Discovery in Congenital Myopathy

A. Beggs, Vandana A Gupta, L. L. Smith, 2016 .

Kelch proteins: emerging roles in skeletal muscle development and diseases

A. Beggs, Vandana A Gupta, 2014, Skeletal Muscle.

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

I. Nonaka, A. Beggs, N. Romero, 2003, Neuromuscular Disorders.

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

J. Kaplan, A. Beggs, K. North, 2000, Nature genetics.

Reproducibility of gene expression across generations of Affymetrix microarrays

Atul J. Butte, Isaac S. Kohane, Despina Sanoudou, 2003, BMC Bioinformatics.

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

A. Look, N. Bolli, O. Abdel-Wahab, 2011, Blood.

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

A. Beggs, L. D. Da Costa, C. Niemeyer, 2006, American journal of human genetics.

Adult-onset nemaline myopathy and monoclonal gammopathy.

G. Bhagat, A. Beggs, C. Keller, 2006, Archives of neurology.

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

K. Pelin, F. Muntoni, R. Sutphen, 1999, Nature Genetics.

Myozenin: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines

L. Kunkel, A. Beggs, S. Watkins, 2001 .

250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands

L. Servais, C. Bönnemann, A. Beggs, 2020, Neuromuscular Disorders.

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

R. Grange, A. Beggs, D. Mack, 2017, Muscle & nerve.

A Cross-Sectional Study of Nemaline Myopathy

Ching H. Wang, M. Brudno, J. Dowling, 2021, Neurology.

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

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

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

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular Disorders.

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.

A. Beggs, D. Sanoudou, D Sanoudou, 2001, Trends in molecular medicine.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Nigel, K. Pelin, M. Bang, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Skeletal muscle repair in a mouse model of nemaline myopathy.

E. Hardeman, A. Beggs, D. Sanoudou, 2006, Human Molecular Genetics.

Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle

Isaac S Kohane, Steven A Greenberg, Alan H Beggs, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Mutations of the slow muscle &agr;-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2002, Neurology.

51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 1998, Neuromuscular disorders : NMD.

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

K. Pelin, B. Engelen, V. Lehtokari, 2016, Annals of neurology.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

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

C. Ottenheijm, A. Beggs, H. Granzier, 2010, Journal of structural biology.

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

C. Ottenheijm, A. Beggs, H. Granzier, 2009, Human molecular genetics.

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

K. Pelin, V. Lehtokari, A. Beggs, 2009, Neuromuscular Disorders.

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

Alan H Beggs, Bianca Haase, G Diane Shelton, 2015, Skeletal Muscle.

Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy

L. Kunkel, T. Tsukahara, I. Nonaka, 1991, Journal of the Neurological Sciences.

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

Janel O. Johnson, R. Finkel, M. Devoto, 2015, JAMA neurology.

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

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

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

P. Meltzer, R. Arceci, D. Esposito, 2011 .

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

C Conover Talbot, Jeanne Kowalski, Alan H Beggs, 2008, Blood.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

C. Brownstein, A. Beggs, L. Kunkel, 2022, Advanced genetics.

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

David A. Williams, Piotr Sliz, Lily Wang, 2020, npj Genomic Medicine.

Chromatin loop structure of the human X chromosome: relevance to X inactivation and CpG clusters

B. Migeon, A. Beggs, A. Beggs, 1989, Molecular and cellular biology.

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

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

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

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Jinkuk Kim, Annapurna Poduri, P Ellen Grant, 2019, The New England journal of medicine.

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

Nasim Vasli, Jocelyn Laporte, Alan H Beggs, 2013, Neurology.

C.O.6 Complete genetic analysis by whole exome sequencing of a cohort with centronuclear myopathy identifies titin gene mutations

A. Beggs, K. Markianos, P. Agrawal, 2012, Neuromuscular Disorders.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians

B. Brais, A. Beggs, D. Brunet, 2020, Annals of neurology.

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

J. Hartwig, A. Beggs, B. Moghadaszadeh, 2018, Cytoskeleton.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

Niklas Smedemark-Margulies, K. Maski, C. Brownstein, 2018, Molecular genetics and metabolism reports.

Altered translation of GATA1 in Diamond-Blackfan anemia

E. Lander, H. Lodish, Stephen W. Eichhorn, 2014, Nature Medicine.

Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

A. Beggs, P. Agrawal, Mugdha A Joshi, 2020, Human molecular genetics.

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

G. Ravenscroft, B. Ilkovski, C. Ottenheijm, 2015, Human molecular genetics.

Muscle weakness in TPM 3-myopathy is due to reduced Ca 2 +-sensitivity and impaired acto-myosin cross-bridge cycling in slow fi bres

G. Ravenscroft, B. Ilkovski, C. Ottenheijm, 2015 .

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

P. Newburger, A. Beggs, M. O'Donohue, 2013, Human Genetics.

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

Alan H Beggs, Pierre-Emmanuel Gleizes, Joerg J Meerpohl, 2008, American journal of human genetics.

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

Meghan C Towne, Lovelace J. Luquette, C. Brownstein, 2013, European journal of medical genetics.

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

S. Scherer, J. Rosenfeld, J. Howe, 2021, Molecular Psychiatry.

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

L. Kunkel, M. Koenig, A. Beggs, 1990, Human Genetics.

Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

D. V. Vander Woude, S. Easteal, A. Beggs, 2001, Human molecular genetics.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Kiely N. James, S. Kingsmore, 2021, Genome Medicine.

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

John Reynders, Jignesh R. Parikh, Piotr Sliz, 2021, HGG advances.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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

Meghan C Towne, Catherine A. Brownstein, Pankaj B. Agrawal, 2016, Cold Spring Harbor molecular case studies.

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

J. Kaplan, A. Beggs, K. North, 2000, Nature Genetics.

Dynamic regulation of endothelial NOS mediated by competitive interaction with α‐actinin‐4 and calmodulin

Y. Hiroi, A. Beggs, J. Liao, 2008, The FASEB Journal.

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

S. Easteal, A. Beggs, K. North, 1999, Nature Genetics.

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

Alan H Beggs, A. Beggs, Laura L Smith, 2013, Journal of visualized experiments : JoVE.

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

L. Kunkel, A. Beggs, N. Laing, 1992, Genomics.

Telethonin protein expression in neuromuscular disorders.

M. Passos-Bueno, M. Zatz, A. Beggs, 2002, Biochimica et biophysica acta.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Matthew S. Lebo, R. Green, H. Rehm, 2019, American journal of human genetics.

Newborn Sequencing in Genomic Medicine and Public Health

Tiina K. Urv, N. Risch, P. Kwok, 2017, Pediatrics.

A curated gene list for reporting results of newborn genomic sequencing

Matthew S. Lebo, H. Rehm, A. McGuire, 2017, Genetics in Medicine.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

E. Lander, S. Orkin, R. Do, 2012, The Journal of clinical investigation.

Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond‐Blackfan Anemia

Isaac S Kohane, Alan H Beggs, Despina Sanoudou, 2006, Stem cells.

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

S. Kong, S. Greenberg, A. Beggs, 2007, Arthritis and rheumatism.

Analysis of meningiomas by methylation- and transcription-based clonality assays.

D. Gilliland, A. Beggs, L. Busque, 1995, Cancer research.

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

M. Daly, A. Beggs, C. Niemeyer, 2001, Blood.

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

Allison P. Heath, Andrew Joseph Guidetti, I. Krantz, 2019, Genetics in Medicine.

The ribosomal basis of diamond‐blackfan anemia: mutation and database update

Mutlu Kartal, Thierry Leblanc, A. Beggs, 2010, Human mutation.

Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.

R. Green, S. Waisbren, A. McGuire, 2021, JAMA pediatrics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

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

A. Beggs, J. Mandel, P. Schultz, 2011, The Journal of clinical investigation.

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

O. Ceyhan-Birsoy, L. Swanson, A. Beggs, 2015, Journal of Neuromuscular Diseases.

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy

A. Beggs, C. Pierson, P. Agrawal, 2007, Neuromuscular Disorders.

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

B. Byrne, F. Muntoni, A. Beggs, 2019, Archives of Disease in Childhood.

A natural history study of X-linked myotubular myopathy

J. Dowling, A. Beggs, C. Nguyen, 2017, Neurology.

Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.

Amy E. Chadwick, H. Kinney, F. Trachtenberg, 2006, JAMA.

Exome sequencing identifies GATA 1 mutations resulting in Diamond-Blackfan anemia

E. Lander, S. Orkin, R. Do, 2012 .

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Jill A. Madden, J. Stoler, T. Yu, 2019, Genetics in Medicine.

Array Comparative Genomic Hybridization of Ribosomal Protein Genes In Diamond-Blackfan Anemia Patients; Evidence for Three New DBA Genes, RPS8, RPS14 and RPL15, with Large Deletion or Duplication

P. Newburger, A. Beggs, J. Lipton, 2010 .

Altered translation of GATA 1 in Diamond-Blackfan anemia

E. Lander, H. Lodish, Stephen W. Eichhorn, 2014 .

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

A. Beggs, Hong Zhang, D. Yuan, 2016, Journal of Cancer.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Expanding the phenotypic spectrum associated with OPHN1 variants.

Meghan C Towne, A. Beggs, I. Holm, 2019, European journal of medical genetics.

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

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.

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

J. Dowling, A. Beggs, D. Chandler, 2012, Human molecular genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

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

M. Wheeler, G. Bejerano, C. Brownstein, 2018, bioRxiv.

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

Sanjay P. Prabhu, Matthew N. Bainbridge, Catherine A. Brownstein, 2017, Cold Spring Harbor molecular case studies.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

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

Ellen F. Macnamara, J. Schmahmann, C. Tifft, 2018, American journal of medical genetics. Part A.

Large duplication in MTM1 associated with myotubular myopathy

J. Dowling, A. Beggs, M. Lawlor, 2013, Neuromuscular Disorders.

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

Jill A. Madden, A. O’Donnell-Luria, C. Brownstein, 2019, European Journal of Human Genetics.

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

Catherine A Brownstein, Alan H Beggs, Timothy W Yu, 2019, European Journal of Human Genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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

Undiagnosed Diseases Network, M. Wheeler, G. Bejerano, 2018, Genetics in Medicine.

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12

L. Kunkel, A. Beggs, E. Engle, 1994, Nature Genetics.

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice

C. Ottenheijm, A. Beggs, L. Brocca, 2021, Human molecular genetics.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

F. Muntoni, K. Mathews, G. Meola, 2019, Human mutation.

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

C. Ottenheijm, A. Beggs, N. Clarke, 2015, Skeletal Muscle.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

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

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human genetics.

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

R. Grange, A. Beggs, J. Widrick, 2013, Human molecular genetics.

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

C. Ottenheijm, A. Beggs, N. Clarke, 2013, Journal of Medical Genetics.

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

Jun Z. Li, M. Burmeister, J. Dowling, 2012, American journal of human genetics.

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

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

L. Kunkel, J. Mendell, C. Bönnemann, 2012, neurogenetics.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

F. Hanefeld, H. Goebel, C. Bönnemann, 2003, Journal of the Neurological Sciences.

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

R. Grange, A. Beggs, D. Mack, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

The Genetic Landscape of Diamond-Blackfan Anemia.

Beryl B. Cummings, Jacob C. Ulirsch, Michael H. Guo, 2019, American journal of human genetics.

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

Meghan C Towne, M. Wegner, C. Brownstein, 2017, Muscle & nerve.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders

Jill A. Madden, C. Brownstein, A. Beggs, 2023, European Journal of Human Genetics.

Human Skeletal Muscle-Specific a-Actinin-2 and-3 Isoforms Form Homodimers and Heterodimers in Vitro and in Vivo

L. Kunkel, A. Beggs, H. Tong, 1998 .

Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.

Mohamed Chahine, Alan H Beggs, Hai Huang, 2010, Biochemistry.

Sporadic, Adult-Onset Nemaline Myopathy Presenting as Camptocormia (Bent-Spine Syndrome)

A. Beggs, L. Adelman, C. Pierson, 2006 .

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

K. Davies, M. Passos-Bueno, M. Zatz, 1993, American journal of medical genetics.

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

C. Brownstein, Andrew Quitadamo, T. Yu, 2020, npj Genomic Medicine.

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

Ann Marie Craig, Alan H. Beggs, Anuradha Rao, 1997, Nature.

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

M. Sheng, M. Wyszynski, A. Beggs, 1997, Nature.

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

A. Beggs, D. Lacomis, H. Abdel-Hamid, 2019, Cold Spring Harbor molecular case studies.

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

A. Beggs, L. Amoasii, J. Laporte, 2013, PLoS genetics.

Effect of ageing on reactivation of the human X-linked HPRT locus

B. Migeon, J. Axelman, A. Beggs, 1988, Nature.

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

Yiping Shen, Va Lip, Catherine A Brownstein, 2016, American journal of medical genetics. Part A.

Mutations in ACTN 4 , encoding α-actinin-4 , cause familial focal segmental glomerulosclerosis

J. Kaplan, A. Beggs, K. North, 2000 .

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project

R. Green, H. Rehm, A. McGuire, 2019, Pediatrics.

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

P. Mullaney, A. Beggs, E. Engle, 1998, American journal of human genetics.

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

B. Migeon, J. Axelman, A. Beggs, 1986, Somatic cell and molecular genetics.

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

J. Brownstein, M. Haendel, C. Brownstein, 2020, Journal of medical Internet research.

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens

A. Beggs, L. Kunkel, J. Widrick, 2019, Journal of neuromuscular diseases.

ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies

L. Kunkel, A. Beggs, P. Neumann, 1992, Neurology.

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

G. Ginsburg, A. Beggs, P. Duggal, 1998, Human Genetics.

ASPIRO Gene Therapy Trial In X-Linked Myotubular Myopathy (XLMTM): Update on Preliminary Safety And Efficacy Findings up to 72 Weeks Post-Treatment (1053)

F. Muntoni, L. Servais, J. Dowling, 2020 .

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

B. Byrne, L. Swanson, A. Beggs, 2017, Muscle & nerve.

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

A. Beggs, E. Engle, J. Knoll, 1997, American journal of human genetics.

Challenging the Current Recommendations for Carrier Testing in Children

R. Green, A. McGuire, A. Beggs, 2019, Pediatrics.

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.

Priya D. Duggal, A. Beggs, P. Duggal, 1998, Circulation.

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

R. Weksberg, F. Muntoni, J. Dowling, 2022, Acta Neuropathologica.

Isoform Cloning, Actin Binding, and Chromosomal Localization of Human Erythroid Dematin, a Member of the Villin Superfamily (*)

A. Beggs, A. Chishti, J. Knoll, 1995, The Journal of Biological Chemistry.

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

L. Kunkel, A. Beggs, A. Puca, 2001, BMC Genetics.

Genomic organization and single-nucleotide polymorphism map of desmuslin , a novel intermediate filament protein on chromosome 15 q 26 . 3

L. Kunkel, A. Beggs, A. Puca, 2001 .

Genomic Organization and Single-Nucleotide Polymorphism Map of Desmuslin , a Novel Intermediate Filament Protein on Chromosome

L. Kunkel, A. Beggs, A. Puca, 2001 .

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

T. Tsukahara, I. Nonaka, A. Beggs, 1995, Neuromuscular Disorders.

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

L. Zon, A. Chakraborty, A. Beggs, 2018, PLoS genetics.

RNA helicase, DDX27 regulates proliferation and myogenic commitment of muscle stem cells

L. Zon, A. Chakraborty, A. Beggs, 2017, bioRxiv.

Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.

B. Sanchez, A. Beggs, L. Kunkel, 2016, Physiological genomics.

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

L. Kunkel, I. Kohane, A. Kho, 2005, Mammalian Genome.

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

Yiping Shen, Bai-Lin Wu, A. Beggs, 2009, BMC Genetics.

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

A. Chapelle, K. Pelin, F. Muntoni, 1999, Neuromuscular Disorders.

Multiplex PCR for Identifying Dystrophin Gene Deletions

A. Beggs, 1996 .

Molecular profiles of inflammatory myopathies

L. Kunkel, I. Kohane, S. Greenberg, 2002, Neurology.

CME Molecular profiles of inflammatory myopathies

L. Kunkel, I. Kohane, S. Greenberg, 2002 .

H. Kinney, A. Beggs, I. Holm, 2009, Pediatric Research.

Patient-customized oligonucleotide therapy for a rare genetic disease

S. Waisbren, P. Grant, Jinkuk Kim, 2020 .

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

M. Bainbridge, C. Brownstein, A. Beggs, 2018, BMC Medical Genetics.

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

E. Bertini, K. Pelin, E. Mercuri, 2014, Human mutation.

Selenoprotein N deficiency in mice is associated with abnormal lung development

R. Grange, A. Beggs, C. Owen, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

C. Ottenheijm, A. Beggs, H. Granzier, 2011, Human molecular genetics.

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

A. Beggs, M. Lawlor, E. Dechene, 2010, Human mutation.

Multiplex PCR for Identifying DMD Gene Deletions

J. T. Dunnen, A. Beggs, 2006, Current protocols in human genetics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

R. Green, A. McGuire, A. Beggs, 2019, Pediatrics.

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

D. Glahn, Richard Smith, C. Brownstein, 2023, Genes.

Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression

R. Green, S. Waisbren, A. McGuire, 2021, Journal of genetic counseling.

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

Fujun Liu, Lin Yang, Alan H Beggs, 2014, The American journal of pathology.

Risk of Cardiac Arrhythmia Variant of SCN 5 A Sodium Channel Implicated in

F. Cappuccio, A. Beggs, R. Kass, 2007 .

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

Meghan C Towne, A. Beggs, A. McIntyre, 2014, European Journal of Human Genetics.

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

L. Kunkel, A. Beggs, H. Tong, 1998, Biochemical and biophysical research communications.

Microsatellite instability analysis of primary human brain tumors.

A. Beggs, J. Zhu, P. Black, 1996, Oncogene.

Host genome analysis of structural variations by Optical Genome Mapping provides clinically valuable insights into genes implicated in critical immune, viral infection, and viral replication pathways in patients with severe COVID-19.

A. Hoischen, V. Bafna, M. Zody, 2021, medRxiv.

Andersen disease

Colin A. Johnson, T. Bourgeron, K. Lesch, 2019 .

Differential Regional Expression and Ultrastructural Localization of α-Actinin-2, a Putative NMDA Receptor-Anchoring Protein, in Rat Brain

R. Weinberg, M. Sheng, M. Wyszynski, 1998, The Journal of Neuroscience.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

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

A. Beggs, M. Childers, A. Buj-Bello, 2015, Annals of translational medicine.

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.

R. Grange, A. Beggs, D. Mack, 2015, Annals of translational medicine.

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

T. Irving, E. Malfatti, C. Ottenheijm, 2018, Annals of neurology.

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

R. Pfundt, N. Alfen, A. Beggs, 2012, Neuromuscular Disorders.

Adenylosuccinic Acid: An Orphan Drug with Untapped Potential

A. Beggs, E. Rybalka, C. Timpani, 2023, Pharmaceuticals.

Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy.

M. Passos-Bueno, M. Zatz, A. Beggs, 1997, Neuropediatrics.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

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

M. Zatz, A. Beggs, E. Zanoteli, 2003, Journal of Molecular Neuroscience.

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

A. Beggs, C. Wallgren‐Pettersson, E. Tahvanainen, 1994, Journal of medical genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

A. Beggs, B. Darras, C. Genetti, 2023, Orphanet Journal of Rare Diseases.

Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19

A. Hoischen, V. Bafna, M. Zody, 2022, iScience.

A. Beggs, M. Ronan, B. Moghadaszadeh, 2007, Neuromuscular Disorders.

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

Meghan C Towne, S. Ferdinandusse, C. Brownstein, 2018, JIMD reports.

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

R. Knobler, A. Beggs, K. Khalili, 1994, Virology.

Optimizing assays of zebrafish larvae swimming performance for drug discovery

A. Beggs, L. Kunkel, J. Widrick, 2023, Expert opinion on drug discovery.

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Meghan C Towne, C. Brownstein, A. Beggs, 2015, neurogenetics.

Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project.

Matthew S. Lebo, H. Rehm, S. Waisbren, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

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

Gill Bejerano, Johannes Birgmeier, Cole A. Deisseroth, 2018, Genetics in Medicine.

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

L. Kunkel, A. Covone, N. Archidiacono, 1989, American journal of human genetics.

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

R. Grange, A. Beggs, M. Childers, 2012, Muscle & nerve.

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

H Sugita, L. Kunkel, E. Hoffman, 1991, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex

A. Beggs, P. Agrawal, M. Perrella, 2023, bioRxiv.

Adenomatous Polyposis, Familial

Colin A. Johnson, T. Bourgeron, K. Lesch, 2009 .

Enormous dystrophin in a patient with Becker muscular dystrophy

L. Kunkel, E. Hoffman, A. Beggs, 1990, Neurology.

Acute colonic pseudo‐obstruction

T. Bourgeron, J. Sznajder, E. Viding, 1992, The British journal of surgery.

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.

Matthew S. Lebo, H. Rehm, A. McGuire, 2023, American journal of human genetics.

P.9.10 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

C. Ottenheijm, A. Beggs, C. Poggesi, 2013, Neuromuscular Disorders.

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

L. Kunkel, A. Beggs, A. H. Beggs, 1990, Nucleic acids research.

Aromatic L-amino acid decarboxylase deficiency

T. Bourgeron, K. Lesch, J. Sznajder, 2020, Definitions.

Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.

A. Beggs, M. Milone, J. Andersen, 2023, American journal of physiology. Cell physiology.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

C. Marshall, A. Beggs, G. Costain, 2023, medRxiv.

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Larry N. Singh, Timothy L. Tickle, Noor B. Dawany, 2019, Developmental cell.

Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia

F. Cappuccio, A. Beggs, R. Kass, 2002, Science.

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project

R. Green, H. Rehm, A. McGuire, 2019, Pediatrics.

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

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

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.

Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2009, Human mutation.

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

C. Ottenheijm, A. Beggs, H. Granzier, 2011, Human molecular genetics.

Traitement de la myopathie

A. Beggs, Vandana A Gupta, L. L. Smith, 2016 .

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

J. Dowling, A. Beggs, C. Pierson, 2012, Disease Models & Mechanisms.

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

S. Gabriel, K. Shianna, C. Walsh, 2012, American journal of human genetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

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

R. Fitts, E. Hardeman, A. Beggs, 2016, American Journal of Pathology.

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

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

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

R. Grange, A. Beggs, M. Childers, 2012, Muscle & nerve.

Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.

L. Kunkel, E. Hoffman, A. Beggs, 1989, Clinical chemistry.