Information

Related Research Units

The Manton Center for Orphan Disease Research
Genetics and Genomics Research

Research Overview

Dr. O’Donnell-Luria is dedicated to finding a diagnosis for every individual with rare disease. Despite significant diagnostic advances with exome sequencing, 70% of patients remain undiagnosed after clinical exome sequencing. Through the Center for Mendelian Genomics (CMG) at Broad, she focuses on diagnosing these challenging cases. Through sequencing thousands of individuals with rare disease, she found patterns in the sequence data that become apparent while not apparent in focused studies. Under the mentorship of Daniel MacArthur and Heidi Rehm at the CMG, her team applies novel methods such as RNA-sequencing, multinucleotide variant interpretation, structural variant calling, short tandem repeats, and long-range sequencing to diagnose challenging cases. She is interested in evaluating epigenetic changes in undiagnosed patients as a novel approach to improve diagnosis and the understanding of rare disease pathophysiology. Additionally, she is interested in mechanisms of genomic variation, including how new genes arise de novo in human populations and function in brain and germline.

Laboratory Projects

  1. Center for Mendelian Genomics: An NIH-funded center focused on exome, genome, and RNAsequencing undiagnosed families in collaboration with researchers around the world, including many labs in Boston. The team uses in-house genomic analysis software seqr to empower diagnosis and applies novel methods improve rare disease diagnosis. 
     
  2. EpiChroma Clinic research: By evaluating alterations in the chromatin landscape in patients with mutations in chromatin modifying proteins, we can learn what genes underlie these disorders through epigenetic dysregulation. Characterization of altered chromatin profiles will also help to diagnose additional patients. Finally, a long-term goal is to evaluate the potential for therapeutics for these disorders which are often caused by mutated enzymes. Better understanding of these conditions

Research Background

Dr. Anne O’Donnell-Luria obtained her M.D./Ph.D. degrees from Columbia University Medical Center in New York, NY. She completed a five-year combined Pediatrics-Medical Genetics residency training program and an additional year of clinical training in Medical Biochemical genetics at Boston Children’s Hospital and Harvard Medical School, during which she was awarded the American College of Medical Genetics/Pfizer Translation Genomic Scholar Fellowship. In 2017, she joined the Division where she focuses on patients with Mendelian disorders of epigenetic machinery in the EpiChroma Genetics Clinic and follows patients with inborn errors of metabolism. She is the Associate Director of the Center for Mendelian Genomics at the Broad Institute of MIT and Harvard. She is an expert on how to use reference population data (ExAC/gnomAD) for interpreting genomic variation and is a member of the ClinGen Sequence Variant Interpretation Committee. She sees genetics and metabolism patients in clinic and inpatient consultations, while spending a majority of her time in the laboratory.

Selected Publications

  1. Carlston CM*, O'Donnell-Luria AH*, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP; Exome Aggregation Consortium., Tvrdik T, MacArthur DG, Mao R. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum Mutat. 2017 May; 38(5):517-523. PMID: 28229513.
  2. Lek M, Karczewski KJ*, Minikel EV*, Samocha KE*, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, …, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 Aug 17;536(7616):285- 91.
  3. Whiffin N*, Minikel E*, Walsh R, O'Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur D, Ware JS. Using highresolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 Oct;19(10):1151-1158. PMID: 28518168.
  4. O'Donnell-Luria AH and Miller DT. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 Jun;135(6):643-54.
  5. O'Donnell-Luria AH*, Lin AP*, Merugumala SK, Rohr F, Waisbren SE, Lynch R, Tchekmedyian V, Goldberg AD, Bellinger A, McFaline-Figueroa JR, Simon T, Gershanik EF, Levy BD, Cohen DE, Samuels MA, Berry GT**, Frank NY**. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 May; 121(1):9-15. PMID: 28408159. [Cover article]
  6. Edwards JR*, O'Donnell AH*, Rollins RA, Peckham HE, Lee C, Milekic MH, Chanrion B, Fu Y, Su T, Hibshoosh H, Gingrich JA, Haghighi F, Nutter R, Bestor TH. Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns. Genome Res. 2010; 20:972- 980.

Education

Medical School

Columbia University Medical School
2011 New York NY

Residency

Medical Genetics Boston Combined Pediatrics Residency Program (BCRP)
2017 Boston MA

Fellowship

Boston Children's Hospital
2016 Boston MA

Publications

  1. Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease. bioRxiv. 2024 Nov 22. View Abstract
  2. Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. medRxiv. 2024 Nov 18. View Abstract
  3. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. medRxiv. 2024 Aug 22. View Abstract
  4. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. Genet Med. 2024 Nov; 26(11):101213. View Abstract
  5. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17; 101216. View Abstract
  6. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. Am J Hum Genet. 2024 Aug 08; 111(8):1626-1642. View Abstract
  7. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. View Abstract
  8. Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Res Sq. 2024 Jul 02. View Abstract
  9. Improving transparency of computational tools for variant effect prediction. Nat Genet. 2024 Jul; 56(7):1324-1326. View Abstract
  10. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv. 2024 Jun 29. View Abstract
  11. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv. 2024 Jun 13. View Abstract
  12. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 06; 390(21):1985-1997. View Abstract
  13. De novoTLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency. iScience. 2024 Jun 21; 27(6):109984. View Abstract
  14. The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv. 2024 May 03. View Abstract
  15. Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Hum Genomics. 2024 04 29; 18(1):44. View Abstract
  16. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract
  17. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Ann Clin Transl Neurol. 2024 May; 11(5):1250-1266. View Abstract
  18. Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. medRxiv. 2024 Mar 22. View Abstract
  19. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024 Mar; 56(3):395-407. View Abstract
  20. Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA. medRxiv. 2024 Feb 07. View Abstract
  21. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Ann Clin Transl Neurol. 2024 Mar; 11(3):629-640. View Abstract
  22. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Feb; 626(7997):E1. View Abstract
  23. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. View Abstract
  24. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. Genet Med. 2024 05; 26(5):101076. View Abstract
  25. A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project. Genet Med. 2024 04; 26(4):101073. View Abstract
  26. Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat Med. 2024 Jan; 30(1):302. View Abstract
  27. A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel). 2023 Dec 15; 11(24). View Abstract
  28. Inferring compound heterozygosity from large-scale exome sequencing data. Nat Genet. 2024 Jan; 56(1):152-161. View Abstract
  29. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Jan; 625(7993):92-100. View Abstract
  30. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract
  31. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. Am J Hum Genet. 2023 09 07; 110(9):1496-1508. View Abstract
  32. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Am J Hum Genet. 2023 09 07; 110(9):1454-1469. View Abstract
  33. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248. View Abstract
  34. Advancing Understanding of Inequities in Rare Disease Genomics. Clin Ther. 2023 08; 45(8):745-753. View Abstract
  35. DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. J Pediatr Neurol. 2023 Dec; 21(6):475-478. View Abstract
  36. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD Rep. 2023 Sep; 64(5):312-316. View Abstract
  37. Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron. 2023 09 20; 111(18):2800-2810.e5. View Abstract
  38. Rare penetrant mutations confer severe risk of common diseases. Science. 2023 06 02; 380(6648):eabo1131. View Abstract
  39. The landscape of tolerated genetic variation in humans and primates. Science. 2023 06 02; 380(6648):eabn8153. View Abstract
  40. First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Genet Med Open. 2023; 1(1). View Abstract
  41. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View Abstract
  42. National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians. Circ Genom Precis Med. 2023 06; 16(3):275-276. View Abstract
  43. Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv. 2023 Mar 30. View Abstract
  44. Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurol Genet. 2023 Apr; 9(2):e200064. View Abstract
  45. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathol. 2023 04; 145(4):479-496. View Abstract
  46. Interpreting variants in genes affected by clonal hematopoiesis in population data. Hum Genet. 2024 Apr; 143(4):545-549. View Abstract
  47. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515. View Abstract
  48. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat Med. 2023 01; 29(1):180-189. View Abstract
  49. Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project. Hum Genet. 2023 Mar; 142(3):351-362. View Abstract
  50. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. Am J Hum Genet. 2022 12 01; 109(12):2163-2177. View Abstract
  51. Developmental dynamics of RNA translation in the human brain. Nat Neurosci. 2022 10; 25(10):1353-1365. View Abstract
  52. Response to Ramos et al. Genet Med. 2022 Dec; 24(12):2593-2594. View Abstract
  53. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524. View Abstract
  54. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med. 2022 07 19; 14(1):73. View Abstract
  55. Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 08; 9(8):1302-1309. View Abstract
  56. A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes. Genet Med. 2022 08; 24(8):1697-1707. View Abstract
  57. seqr: A web-based analysis and collaboration tool for rare disease genomics. Hum Mutat. 2022 06; 43(6):698-707. View Abstract
  58. Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. Am J Psychiatry. 2022 03; 179(3):189-203. View Abstract
  59. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):750-758. View Abstract
  60. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797. View Abstract
  61. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Hum Mutat. 2022 04; 43(4):487-498. View Abstract
  62. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. View Abstract
  63. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  64. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022 08; 43(8):1012-1030. View Abstract
  65. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. J Med Genet. 2022 08; 59(8):748-758. View Abstract
  66. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809. View Abstract
  67. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 09; 597(7874):E3-E4. View Abstract
  68. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2022 07; 59(7):697-705. View Abstract
  69. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465. View Abstract
  70. Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. Front Genet. 2021; 12:674295. View Abstract
  71. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 06 09; 12(1):3505. View Abstract
  72. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 06 07; 218(6). View Abstract
  73. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 Jun 03; 108(6):1164. View Abstract
  74. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. J Allergy Clin Immunol. 2022 01; 149(1):379-387. View Abstract
  75. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 05 06; 108(5):840-856. View Abstract
  76. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 05; 29(5):816-826. View Abstract
  77. Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2021 Feb 02; 12(1):827. View Abstract
  78. Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2021 Feb 02; 12(1):839. View Abstract
  79. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53. View Abstract
  80. Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Nature. 2021 Feb; 590(7846):E54. View Abstract
  81. Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55. View Abstract
  82. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. View Abstract
  83. 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
  84. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J Med Genet. 2021 09; 58(9):609-618. View Abstract
  85. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020 05 27; 11(1):2539. View Abstract
  86. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 05 27; 11(1):2523. View Abstract
  87. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451. View Abstract
  88. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443. View Abstract
  89. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458. View Abstract
  90. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. View Abstract
  91. Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin. Dev Biol. 2020 08 01; 464(1):71-87. View Abstract
  92. Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020 01; 30(1):62-71. View Abstract
  93. Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. Am J Hum Genet. 2019 11 07; 105(5):921-932. View Abstract
  94. Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations. JAMA. 2019 Oct 01; 322(13):1305-1306. View Abstract
  95. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240. View Abstract
  96. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 06 06; 104(6):1210-1222. View Abstract
  97. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
  98. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View Abstract
  99. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812. View Abstract
  100. Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. Am J Hum Genet. 2019 01 03; 104(1):187-190. View Abstract
  101. Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 01; 51(1):3-4. View Abstract
  102. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View Abstract
  103. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. View Abstract
  104. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2. View Abstract
  105. Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View Abstract
  106. ClinVar data parsing. Wellcome Open Res. 2017; 2:33. View Abstract
  107. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158. View Abstract
  108. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). View Abstract
  109. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239. View Abstract
  110. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May; 49(5):806-810. View Abstract
  111. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum Mutat. 2017 05; 38(5):517-523. View Abstract
  112. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View Abstract
  113. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91. View Abstract
  114. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. View Abstract
  115. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016 Apr 22; 352(6284):474-7. View Abstract
  116. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9. View Abstract
  117. Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics. 2015 Oct; 16(4):307-14. View Abstract
  118. Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 2015 Feb; 22(1):65-72. View Abstract
  119. Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis. J Cancer Ther. 2014 Dec 01; 5(14):1311-1324. View Abstract
  120. Increased DNA methylation in the suicide brain. Dialogues Clin Neurosci. 2014 Sep; 16(3):430-8. View Abstract
  121. Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. Mol Psychiatry. 2015 Aug; 20(8):995-1001. View Abstract
  122. MethylomeDB: a database of DNA methylation profiles of the brain. Nucleic Acids Res. 2012 Jan; 40(Database issue):D1245-9. View Abstract
  123. Role of CpG context and content in evolutionary signatures of brain DNA methylation. Epigenetics. 2011 Nov; 6(11):1308-18. View Abstract
  124. Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns. Genome Res. 2010 Jul; 20(7):972-80. View Abstract
  125. Mammalian cytosine methylation at a glance. J Cell Sci. 2009 Aug 15; 122(Pt 16):2787-91. View Abstract
  126. Hyperconserved CpG domains underlie Polycomb-binding sites. Proc Natl Acad Sci U S A. 2007 Mar 27; 104(13):5521-6. View Abstract
  127. Solvent isotope effects on alpha-glucosidase. Biochim Biophys Acta. 2004 Dec 01; 1703(1):63-7. View Abstract
  128. Phosphorylation of serine 1387 in Brca1 is specifically required for the Atm-mediated S-phase checkpoint after ionizing irradiation. Cancer Res. 2002 Aug 15; 62(16):4588-91. View Abstract
  129. KMT2E-Related Neurodevelopmental Disorder. GeneReviews®. 1993. View Abstract

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