A major focus over the years has been on gene discovery and improving methods for identification of pathogenic mutations, with return of these research results to patients in a clinical setting. Current research in the Beggs laboratory utilizes genomic approaches in human patients and animal models to understand the pathophysiology of rare genetic conditions, and to develop animal models for use in creating targeted therapies to treat these devastating childhood disorders.

Laboratory Projects

  1. Gene discovery and disease mechanisms in neuromuscular disease:Much of our work has focused on understanding the genetics of congenital myopathies such as nemaline myopathy (NM), centronuclear myopathy, and related conditions. We have one of the largest data and specimen banks for patients with congenital myopathy, and have used this in contributing to discoveries of over a dozen disease genes for myopathies and related neuromuscular diseases. We continue to enroll patients, find new disease genes, and study the mechanisms leading to weakness in these children.

  2. Development of therapies for congenital myopathies:Availability of faithful animal models and our knowledge of the genetic basis for rare diseases has led to development and testing of new therapies for some of these conditions. We have tested and/or developed myostatin inhibition as well as both protein and gene replacement therapies for myotubular myopathy, resulting in the awarding of a patent for gene therapy of MTM and the creation of a biotechnology company that is now planning clinical trials of gene therapy. Collaborations with colleagues expert in muscle mechanics, have led to tests of drugs (troponin activators) to increase strength. Ongoing work is focusing on small molecule drug screens in zebrafish models and has already resulted in identification of several promising candidates for several neuromuscular mutants.

  3. Discovery of rare Mendelian disease genes: Recent technological advances have revolutionized our ability to sequence entire genomes. With the Manton Center for Orphan Disease Research, we have built an institutional infrastructure to ascertain, consent, and enroll patients with rare genetic diseases into a research program that allows us to study patients with unknown diagnoses who otherwise would be discharged and potentially lost to follow up without the benefit of any research investigation. The Center provides expertise in genomics to junior clinical and research staff and collaborative support in new gene discovery, which has led to numerous genetic discoveries as well as spawning new research projects throughout the hospital.


Alan H. Beggs PhD. is the Director of the Manton Center for Orphan Disease Research at Boston Children's Hospital and Sir Edwin & Lady Manton Professor of Pediatrics at Harvard Medical School. Following undergraduate studies at Cornell University, Dr. Beggs obtained his PhD in Human Genetics at Johns Hopkins University, with subsequent postdoctoral fellowship training in medical and molecular genetics at Johns Hopkins and Boston Children’s hospitals. He has general expertise in laboratory and clinical applications of genetics to human disease, and since 1992 has directed an independent research program in the Division of Genetics and Genomics.

Over the years, he has used the toolset of human molecular genetics to study normal biology and pathophysiology of a variety of disorders including muscular dystrophies, cardiac arrhythmias, developmental brainstem defects, hereditary anemias, sudden infant death syndrome, and congenital myopathies. Dr. Beggs has been a standing and ad hoc member of numerous NIH study sections and grant reviewer for the Muscular Dystrophy Association and March of Dimes. He is a member of several scientific advisory boards and boards of directors for nonprofit and commercial entities.


Publications powered by Harvard Catalyst Profiles

  1. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 Mar 26. View abstract
  2. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 Mar 16; 23(3):e21023. View abstract
  3. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 Mar 03. View abstract
  4. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 Feb 17. View abstract
  5. Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling. Proc Natl Acad Sci U S A. 2021 Jan 12; 118(2). View abstract
  6. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021 03 09; 96(10):e1425-e1436. View abstract
  7. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. View abstract
  8. Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. Ann Clin Transl Neurol. 2020 11; 7(11):2288-2296. View abstract
  9. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020 Jul 29; 29(12):1996-2003. View abstract
  10. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View abstract
  11. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View abstract
  12. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Sci Transl Med. 2020 05 20; 12(544). View abstract
  13. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health. 2020 05; 23(5):559-565. View abstract
  14. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020 04; 87(4):568-583. View abstract
  15. KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2020 02 03; 130(2):754-767. View abstract
  16. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 Feb; 22(2):449. View abstract
  17. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol. 2020 02; 87(2):217-232. View abstract
  18. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019; 4:32. View abstract
  19. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 Dec 10; 4(1):32. View abstract
  20. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. View abstract
  21. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View abstract
  22. Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia. Discoveries (Craiova). 2019 Sep 30; 7(3):e96. View abstract
  23. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child. 2020 04; 105(4):332-338. View abstract
  24. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020 02; 22(2):371-380. View abstract
  25. MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). View abstract
  26. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View abstract
  27. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Hum Mutat. 2019 07; 40(7):962-974. View abstract
  28. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Dev Cell. 2019 04 08; 49(1):10-29. View abstract
  29. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View abstract
  30. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93. View abstract
  31. Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S37-S43. View abstract
  32. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S6-S13. View abstract
  33. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 01; 143(Suppl 1):S27-S32. View abstract
  34. Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis. 2019; 6(3):271-287. View abstract
  35. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. . 2018 12; 176(12):2768-2776. View abstract
  36. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med. 2019 07; 21(7):1585-1593. View abstract
  37. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View abstract
  38. 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. BMC Med Genet. 2018 11 13; 19(1):197. View abstract
  39. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. View abstract
  40. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). View abstract
  41. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View abstract
  42. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View abstract
  43. An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 2018; 13(6):e0199712. View abstract
  44. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. View abstract
  45. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 06; 83(6):1105-1124. View abstract
  46. SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. Hum Mol Genet. 2018 05 01; 27(9):1608-1617. View abstract
  47. Sarcomeric and nonmuscle a-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines. Cytoskeleton (Hoboken). 2018 05; 75(5):213-228. View abstract
  48. RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes. PLoS Genet. 2018 03; 14(3):e1007226. View abstract
  49. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). Ann Neurol. 2018 02; 83(2):269-282. View abstract
  50. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle Nerve. 2018 04; 57(4):550-560. View abstract
  51. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017 09 15; 26(18):3545-3552. View abstract
  52. A natural history study of X-linked myotubular myopathy. Neurology. 2017 Sep 26; 89(13):1355-1364. View abstract
  53. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View abstract
  54. Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. Muscle Nerve. 2017 Nov; 56(5):943-953. View abstract
  55. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). View abstract
  56. A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. J Clin Neuromuscul Dis. 2017 Mar; 18(3):147-151. View abstract
  57. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View abstract
  58. Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. Mol Ther. 2017 04 05; 25(4):839-854. View abstract
  59. Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. Sci Transl Med. 2017 02 08; 9(376). View abstract
  60. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765. View abstract
  61. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View abstract
  62. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. View abstract
  63. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 11 01; 48(11):850-860. View abstract
  64. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. View abstract
  65. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View abstract
  66. Mutation-specific effects on thin filament length in thin filament myopathy. Ann Neurol. 2016 06; 79(6):959-69. View abstract
  67. Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. Am J Pathol. 2016 06; 186(6):1568-81. View abstract
  68. 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. PLoS One. 2016; 11(4):e0153597. View abstract
  69. 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. . 2016 May; 170A(5):1165-73. View abstract
  70. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol. 2016 Feb; 75(2):102-10. View abstract
  71. Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice. J Cancer. 2016; 7(1):32-6. View abstract
  72. 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. Ann Transl Med. 2015 Oct; 3(18):262. View abstract
  73. Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs. Ann Transl Med. 2015 Oct; 3(17):257. View abstract
  74. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View abstract
  75. Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Hum Mol Genet. 2015 Nov 15; 24(22):6278-92. View abstract
  76. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol. 2015 Jun; 72(6):689-98. View abstract
  77. Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. Skelet Muscle. 2015; 5:12. View abstract
  78. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. PLoS One. 2015; 10(4):e0123829. View abstract
  79. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. View abstract
  80. X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle. 2015; 5(1):1. View abstract
  81. Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies. J Vet Intern Med. 2015 Jan; 29(1):254-60. View abstract
  82. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2015 Jan; 125(1):456-7. View abstract
  83. Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. J Neuromuscul Dis. 2015; 2(1):87-92. View abstract
  84. Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat. 2014 Dec; 35(12):1418-26. View abstract
  85. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol. 2014 Nov; 71(11):1413-20. View abstract
  86. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov; 124(11):4693-708. View abstract
  87. Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy. Muscle Nerve. 2014 Oct; 50(4):607-9. View abstract
  88. Gait characteristics in a canine model of X-linked myotubular myopathy. J Neurol Sci. 2014 Nov 15; 346(1-2):221-6. View abstract
  89. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 07; 95(2):218-26. View abstract
  90. Biomarker-based treatment selection in early-stage rectal cancer to promote organ preservation. Br J Surg. 2014 Sep; 101(10):1299-309. View abstract
  91. Tissue triage and freezing for models of skeletal muscle disease. J Vis Exp. 2014 Jul 15; (89). View abstract
  92. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014 Jul; 20(7):748-53. View abstract
  93. Kelch proteins: emerging roles in skeletal muscle development and diseases. Skelet Muscle. 2014; 4:11. View abstract
  94. Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy. Hum Mutat. 2014 Jul; 35(7):868-79. View abstract
  95. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul; 35(7):779-90. View abstract
  96. Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. Am J Pathol. 2014 Jun; 184(6):1831-42. View abstract
  97. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. View abstract
  98. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014 Oct; 22(10):1229-32. View abstract
  99. Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Hum Mol Genet. 2014 Jul 01; 23(13):3566-78. View abstract
  100. Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med. 2014 Jan 22; 6(220):220ra10. View abstract
  101. Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. J Vis Exp. 2013 Dec 13; (82):e50925. View abstract
  102. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. View abstract
  103. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014 Feb; 24(2):97-116. View abstract
  104. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82. View abstract
  105. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 01; 81(14):1205-14. View abstract
  106. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013 Nov; 132(11):1265-74. View abstract
  107. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet. 2013 Jun; 9(6):e1003583. View abstract
  108. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013 Jul 11; 93(1):6-18. View abstract
  109. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain. 2013 Jun; 136(Pt 6):1718-31. View abstract
  110. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. J Med Genet. 2013 Jun; 50(6):383-92. View abstract
  111. Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB J. 2013 Apr; 27(4):1585-99. View abstract
  112. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet. 2013 Apr 15; 22(8):1525-38. View abstract
  113. Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord. 2013 Mar; 23(3):214-8. View abstract
  114. Muscle function in a canine model of X-linked myotubular myopathy. Muscle Nerve. 2012 Oct; 46(4):588-91. View abstract
  115. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 07; 91(3):541-7. View abstract
  116. A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One. 2012; 7(8):e43794. View abstract
  117. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8. View abstract
  118. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10; 91(2):365-71. View abstract
  119. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012 Jul; 122(7):2439-43. View abstract
  120. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech. 2012 Nov; 5(6):852-9. View abstract
  121. Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet. 2012 Oct; 20(10). View abstract
  122. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord. 2012 Jul; 22(7):632-9. View abstract
  123. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat. 2012 Jul; 33(7):1037-44. View abstract
  124. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59. View abstract
  125. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24. View abstract
  126. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet. 2012 May 15; 21(10):2341-56. View abstract
  127. a-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by a-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB J. 2012 May; 26(5):1892-908. View abstract
  128. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet. 2012 Feb 15; 21(4):811-25. View abstract
  129. Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skelet Muscle. 2011 Jun 20; 1(1):23. View abstract
  130. Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Blood. 2011 Jul 28; 118(4):903-15. View abstract
  131. Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet. 2011 May 15; 20(10):2015-25. View abstract
  132. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011 May 01; 20(9):1712-25. View abstract
  133. Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. Am J Pathol. 2011 Feb; 178(2):784-93. View abstract
  134. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest. 2011 Jan; 121(1):70-85. View abstract
  135. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat. 2010 Dec; 31(12):1269-79. View abstract
  136. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A. 2010 Aug 17; 107(33):14697-702. View abstract
  137. Functional muscle analysis of the Tcap knockout mouse. Hum Mol Genet. 2010 Jun 01; 19(11):2268-83. View abstract
  138. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat. 2010 Feb; 31(2):176-83. View abstract
  139. Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry. 2010 Jan 12; 49(1):166-78. View abstract
  140. Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatr Res. 2009 Dec; 66(6):631-5. View abstract
  141. Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010 May; 170(2):334-43. View abstract
  142. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A. 2009 Nov 03; 106(44):18763-8. View abstract
  143. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66. View abstract
  144. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009 Sep; 30(9):1267-77. View abstract
  145. Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. Muscle Nerve. 2009 Jun; 39(6):739-53. View abstract
  146. Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet. 2009 Jul 01; 18(13):2359-69. View abstract
  147. The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord. 2009 Mar; 19(3):179-81. View abstract
  148. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec; 83(6):769-80. View abstract
  149. Acute appendicitis is characterized by a uniform and highly selective pattern of inflammatory gene expression. Mucosal Immunol. 2008 Jul; 1(4):297-308. View abstract
  150. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008 Sep 01; 112(5):1582-92. View abstract
  151. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet. 2008 Jul 15; 17(14):2132-43. View abstract
  152. Dynamic regulation of endothelial NOS mediated by competitive interaction with alpha-actinin-4 and calmodulin. FASEB J. 2008 May; 22(5):1450-7. View abstract
  153. Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis Rheum. 2007 Nov; 56(11):3784-92. View abstract
  154. Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007 Oct 23; 104(43):17016-21. View abstract
  155. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord. 2007 Jul; 17(7):562-8. View abstract
  156. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan; 80(1):162-7. View abstract
  157. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006 Dec; 79(6):1110-8. View abstract
  158. Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA. 2006 Nov 01; 296(17):2124-32. View abstract
  159. Selenoproteins and their impact on human health through diverse physiological pathways. Physiology (Bethesda). 2006 Oct; 21:307-15. View abstract
  160. Skeletal muscle repair in a mouse model of nemaline myopathy. Hum Mol Genet. 2006 Sep 01; 15(17):2603-12. View abstract
  161. Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. J Cell Sci. 2006 Aug 01; 119(Pt 15):3117-27. View abstract
  162. Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells. 2006 Sep; 24(9):2034-44. View abstract
  163. Multiplex PCR for identifying DMD gene deletions. Curr Protoc Hum Genet. 2006 May; Chapter 9:Unit 9.3. View abstract
  164. Adult-onset nemaline myopathy and monoclonal gammopathy. Arch Neurol. 2006 Jan; 63(1):132-4. View abstract
  165. Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A. 2005 Dec 27; 102(52):19097-102. View abstract
  166. The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome. 2005 Oct; 16(10):739-48. View abstract
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