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. Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis. Ann Neurol. 2025 Nov 19. View Abstract
  2. GREGoR: accelerating genomics for rare diseases. Nature. 2025 Nov; 647(8089):331-342. View Abstract
  3. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. Nat Commun. 2025 Oct 31; 16(1):9623. View Abstract
  4. Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome. Clin Genet. 2025 Oct 25. View Abstract
  5. Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction. AJNR Am J Neuroradiol. 2025 Sep 29. View Abstract
  6. Transcriptome-wide outlier approach identifies individuals with minor spliceopathies. Am J Hum Genet. 2025 Oct 02; 112(10):2458-2475. View Abstract
  7. Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies. medRxiv. 2025 Sep 04. View Abstract
  8. Predicting expression-altering promoter mutations with deep learning. Science. 2025 Aug 07; 389(6760):eads7373. View Abstract
  9. Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes. J Intellect Disabil Res. 2025 Nov; 69(11):1295-1303. View Abstract
  10. Search for a genetic cause of variably protease-sensitive prionopathy. PLoS Pathog. 2025 Aug; 21(8):e1013343. View Abstract
  11. Expectations for papers performing Mendelian randomization analyses. PLoS Genet. 2025 Jul; 21(7):e1011767. View Abstract
  12. AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions. Am J Med Genet A. 2025 Nov; 197(11):e64153. View Abstract
  13. Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders. Am J Med Genet A. 2025 Nov; 197(11):e64160. View Abstract
  14. Missense variants in TUBA4A cause myo-tubulinopathies. medRxiv. 2025 Jun 28. View Abstract
  15. HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models. Ann Neurol. 2025 Sep; 98(3):573-589. View Abstract
  16. Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts. medRxiv. 2025 May 21. View Abstract
  17. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet. 2025 May 16. View Abstract
  18. HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model. Brain. 2025 May 13; 148(5):1707-1722. View Abstract
  19. Gene-based calibration of high-throughput functional assays for clinical variant classification. bioRxiv. 2025 May 04. View Abstract
  20. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. HGG Adv. 2025 Apr 15; 6(3):100441. View Abstract
  21. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships. Genet Med Open. 2025; 3:103429. View Abstract
  22. Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder. Brain. 2025 Apr 03; 148(4):1155-1168. View Abstract
  23. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Mar 22. View Abstract
  24. Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria. Genet Med. 2025 Mar 10; 27(6):101402. View Abstract
  25. Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays. Invest Ophthalmol Vis Sci. 2025 Mar 03; 66(3):62. View Abstract
  26. Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL. HGG Adv. 2025 Apr 10; 6(2):100419. View Abstract
  27. Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Hum Genet. 2025 Mar; 144(2-3):127-142. View Abstract
  28. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. Am J Hum Genet. 2025 Feb 06; 112(2):428-449. View Abstract
  29. Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity. bioRxiv. 2025 Jan 20. View Abstract
  30. Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome. Clin Genet. 2025 Jun; 107(6):636-645. View Abstract
  31. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets. Genet Med. 2025 Apr; 27(4):101336. View Abstract
  32. Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease. bioRxiv. 2024 Nov 22. View Abstract
  33. 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
  34. Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 10 24; 391(16):1511-1518. View Abstract
  35. Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases. Orphanet J Rare Dis. 2024 Sep 27; 19(1):357. View Abstract
  36. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. Genet Med. 2024 Nov; 26(11):101213. View Abstract
  37. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2025 Apr; 27(4):101216. View Abstract
  38. 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
  39. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. View Abstract
  40. Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Res Sq. 2024 Jul 02. View Abstract
  41. Improving transparency of computational tools for variant effect prediction. Nat Genet. 2024 Jul; 56(7):1324-1326. View Abstract
  42. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract
  43. De novoTLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency. iScience. 2024 Jun 21; 27(6):109984. View Abstract
  44. The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv. 2024 May 03. View Abstract
  45. 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
  46. 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
  47. 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
  48. Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. medRxiv. 2024 Mar 22. View Abstract
  49. 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
  50. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Ann Clin Transl Neurol. 2024 Mar; 11(3):629-640. View Abstract
  51. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Feb; 626(7997):E1. View Abstract
  52. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. View Abstract
  53. 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
  54. A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project. Genet Med. 2024 04; 26(4):101073. View Abstract
  55. Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat Med. 2024 Jan; 30(1):302. View Abstract
  56. A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel). 2023 Dec 15; 11(24). View Abstract
  57. Inferring compound heterozygosity from large-scale exome sequencing data. Nat Genet. 2024 Jan; 56(1):152-161. View Abstract
  58. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Jan; 625(7993):92-100. View Abstract
  59. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract
  60. 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
  61. 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
  62. 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
  63. Advancing Understanding of Inequities in Rare Disease Genomics. Clin Ther. 2023 08; 45(8):745-753. View Abstract
  64. DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. J Pediatr Neurol. 2023 Dec; 21(6):475-478. View Abstract
  65. 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
  66. Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron. 2023 09 20; 111(18):2800-2810.e5. View Abstract
  67. Rare penetrant mutations confer severe risk of common diseases. Science. 2023 06 02; 380(6648):eabo1131. View Abstract
  68. The landscape of tolerated genetic variation in humans and primates. Science. 2023 06 02; 380(6648):eabn8153. View Abstract
  69. First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Genet Med Open. 2023; 1(1). View Abstract
  70. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View Abstract
  71. 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
  72. Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv. 2023 Mar 30. View Abstract
  73. Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurol Genet. 2023 Apr; 9(2):e200064. View Abstract
  74. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathol. 2023 04; 145(4):479-496. View Abstract
  75. Interpreting variants in genes affected by clonal hematopoiesis in population data. Hum Genet. 2024 Apr; 143(4):545-549. View Abstract
  76. 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
  77. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat Med. 2023 01; 29(1):180-189. View Abstract
  78. 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
  79. 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
  80. Developmental dynamics of RNA translation in the human brain. Nat Neurosci. 2022 10; 25(10):1353-1365. View Abstract
  81. Response to Ramos et al. Genet Med. 2022 Dec; 24(12):2593-2594. View Abstract
  82. 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
  83. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med. 2022 07 19; 14(1):73. View Abstract
  84. Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 08; 9(8):1302-1309. View Abstract
  85. 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
  86. seqr: A web-based analysis and collaboration tool for rare disease genomics. Hum Mutat. 2022 06; 43(6):698-707. View Abstract
  87. 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
  88. 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
  89. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797. View Abstract
  90. 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
  91. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. View Abstract
  92. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  93. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022 08; 43(8):1012-1030. View Abstract
  94. 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
  95. 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
  96. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 09; 597(7874):E3-E4. View Abstract
  97. 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
  98. 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
  99. Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. Front Genet. 2021; 12:674295. View Abstract
  100. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 06 09; 12(1):3505. View Abstract
  101. 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
  102. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 Jun 03; 108(6):1164. View Abstract
  103. 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
  104. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 05 06; 108(5):840-856. View Abstract
  105. 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
  106. 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
  107. 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
  108. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53. View Abstract
  109. Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Nature. 2021 Feb; 590(7846):E54. View Abstract
  110. Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55. View Abstract
  111. 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
  112. 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
  113. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J Med Genet. 2021 09; 58(9):609-618. View Abstract
  114. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020 05 27; 11(1):2539. View Abstract
  115. 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
  116. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451. View Abstract
  117. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443. View Abstract
  118. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458. View Abstract
  119. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. View Abstract
  120. 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
  121. Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020 01; 30(1):62-71. View Abstract
  122. 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
  123. Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations. JAMA. 2019 Oct 01; 322(13):1305-1306. View Abstract
  124. 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
  125. 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
  126. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
  127. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View Abstract
  128. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812. View Abstract
  129. 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
  130. Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 01; 51(1):3-4. View Abstract
  131. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View Abstract
  132. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. View Abstract
  133. 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
  134. 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
  135. ClinVar data parsing. Wellcome Open Res. 2017; 2:33. View Abstract
  136. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158. View Abstract
  137. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). View Abstract
  138. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239. View Abstract
  139. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May; 49(5):806-810. View Abstract
  140. 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
  141. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View Abstract
  142. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91. View Abstract
  143. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. View Abstract
  144. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016 Apr 22; 352(6284):474-7. View Abstract
  145. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9. View Abstract
  146. Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics. 2015 Oct; 16(4):307-14. View Abstract
  147. Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 2015 Feb; 22(1):65-72. View Abstract
  148. Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis. J Cancer Ther. 2014 Dec 01; 5(14):1311-1324. View Abstract
  149. Increased DNA methylation in the suicide brain. Dialogues Clin Neurosci. 2014 Sep; 16(3):430-8. View Abstract
  150. 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
  151. MethylomeDB: a database of DNA methylation profiles of the brain. Nucleic Acids Res. 2012 Jan; 40(Database issue):D1245-9. View Abstract
  152. Role of CpG context and content in evolutionary signatures of brain DNA methylation. Epigenetics. 2011 Nov; 6(11):1308-18. View Abstract
  153. 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
  154. Mammalian cytosine methylation at a glance. J Cell Sci. 2009 Aug 15; 122(Pt 16):2787-91. View Abstract
  155. Hyperconserved CpG domains underlie Polycomb-binding sites. Proc Natl Acad Sci U S A. 2007 Mar 27; 104(13):5521-6. View Abstract
  156. Solvent isotope effects on alpha-glucosidase. Biochim Biophys Acta. 2004 Dec 01; 1703(1):63-7. View Abstract
  157. 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
  158. KMT2E-Related Neurodevelopmental Disorder. GeneReviews®. 1993. View Abstract

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