Anne O'Donnell-Luria | Medical Services
Specialties
Programs & Services
Languages
- English
Anne O'Donnell-Luria | 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
Anne O'Donnell-Luria | Certifications
- American Board of Medical Genetics and Genomics (Clinical Genetics)
- American Board of Medical Genetics and Genomics (Medical Biochemical Genetics)
- American Board of Pediatrics (General)
Anne O'Donnell-Luria | Professional History
Dr. Anne O’Donnell-Luria is the Co-Director of the Broad Institute Center for Mendelian Genomics (CMG), she leads a team analyzing thousands of rare disease families to improve genetic diagnosis and novel disease gene discovery. Her research is focused on using large-scale genomics to understand the mechanisms of incomplete penetrance.
Dr. O’Donnell-Luria co-leads the EpiChroma clinic, A Genetics Clinic for Epigenetic and Chromatin Disorders, [2]http://epichromaclinic.com/. The EpiChroma clinic focuses on diagnosing and caring for children and families with disorders due to mutations in the DNA methylation or histone machinery. By working together with families, she hopes to improve patient management and increase research for these conditions, while educating providers and families about epigenetics and the associated conditions. She also sees patients with inborn errors of metabolism and other rare genetic conditions.
Dr. O’Donnell-Luria is trained in clinical genetics, biochemical genetics and pediatrics. She completed her MD/PhD training at Columbia University Medical School in New York. Her thesis research focused on the role of DNA methylation alterations in complex disease including cancer and neuropsychiatric disease. She became interested in rare disease during medical school, leading her to be the first to complete the Combined Pediatrics-Genetics Residency Training Program at Boston Children’s Hospital and Harvard Medical School. She further completed a Fellowship in Medical Biochemical Genetics at Boston Children’s Hospital.
Anne O'Donnell-Luria | Publications
Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease. bioRxiv. 2024 Nov 22. View Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease. Abstract
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 Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. Abstract
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. medRxiv. 2024 Aug 22. View Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. Abstract
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. Genet Med. 2024 Nov; 26(11):101213. View Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. Abstract
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17; 101216. View Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Abstract
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 Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. Abstract
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. View De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Abstract
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Res Sq. 2024 Jul 02. View Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Abstract
Improving transparency of computational tools for variant effect prediction. Nat Genet. 2024 Jul; 56(7):1324-1326. View Improving transparency of computational tools for variant effect prediction. Abstract
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv. 2024 Jun 29. View Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. Abstract
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv. 2024 Jun 13. View Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. Abstract
Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 06; 390(21):1985-1997. View Genome Sequencing for Diagnosing Rare Diseases. Abstract
De novoTLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency. iScience. 2024 Jun 21; 27(6):109984. View De novoTLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency. Abstract
The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv. 2024 May 03. View The landscape of regional missense mutational intolerance quantified from 125,748 exomes. Abstract
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Hum Genomics. 2024 04 29; 18(1):44. View Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Abstract
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 Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Abstract
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 Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Abstract
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. medRxiv. 2024 Mar 22. View Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. Abstract
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 Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Abstract
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA. medRxiv. 2024 Feb 07. View Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA. Abstract
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Ann Clin Transl Neurol. 2024 Mar; 11(3):629-640. View Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Abstract
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Feb; 626(7997):E1. View Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes. Abstract
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. View Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. Abstract
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 Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. Abstract
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project. Genet Med. 2024 04; 26(4):101073. View A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project. Abstract
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat Med. 2024 Jan; 30(1):302. View Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Abstract
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel). 2023 Dec 15; 11(24). View A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Abstract
Inferring compound heterozygosity from large-scale exome sequencing data. Nat Genet. 2024 Jan; 56(1):152-161. View Inferring compound heterozygosity from large-scale exome sequencing data. Abstract
A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Jan; 625(7993):92-100. View A genomic mutational constraint map using variation in 76,156 human genomes. Abstract
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. Abstract
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 Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. Abstract
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 Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Abstract
Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248. View Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Abstract
Advancing Understanding of Inequities in Rare Disease Genomics. Clin Ther. 2023 08; 45(8):745-753. View Advancing Understanding of Inequities in Rare Disease Genomics. Abstract
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. J Pediatr Neurol. 2023 Dec; 21(6):475-478. View DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. Abstract
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD Rep. 2023 Sep; 64(5):312-316. View Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. Abstract
Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron. 2023 09 20; 111(18):2800-2810.e5. View Phenotype and genetic analysis of data collected within the first year of NeuroDev. Abstract
Rare penetrant mutations confer severe risk of common diseases. Science. 2023 06 02; 380(6648):eabo1131. View Rare penetrant mutations confer severe risk of common diseases. Abstract
The landscape of tolerated genetic variation in humans and primates. Science. 2023 06 02; 380(6648):eabn8153. View The landscape of tolerated genetic variation in humans and primates. Abstract
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Genet Med Open. 2023; 1(1). View First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Abstract
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Abstract
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 National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians. Abstract
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv. 2023 Mar 30. View Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. Abstract
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Neurol Genet. 2023 Apr; 9(2):e200064. View Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report. Abstract
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathol. 2023 04; 145(4):479-496. View Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Abstract
Interpreting variants in genes affected by clonal hematopoiesis in population data. Hum Genet. 2024 Apr; 143(4):545-549. View Interpreting variants in genes affected by clonal hematopoiesis in population data. Abstract
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515. View Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Abstract
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat Med. 2023 01; 29(1):180-189. View Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Abstract
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 Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project. Abstract
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 Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. Abstract
Developmental dynamics of RNA translation in the human brain. Nat Neurosci. 2022 10; 25(10):1353-1365. View Developmental dynamics of RNA translation in the human brain. Abstract
Response to Ramos et al. Genet Med. 2022 Dec; 24(12):2593-2594. View Response to Ramos et al. Abstract
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 Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Abstract
Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med. 2022 07 19; 14(1):73. View Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Abstract
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Ann Clin Transl Neurol. 2022 08; 9(8):1302-1309. View Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Abstract
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 A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes. Abstract
seqr: A web-based analysis and collaboration tool for rare disease genomics. Hum Mutat. 2022 06; 43(6):698-707. View seqr: A web-based analysis and collaboration tool for rare disease genomics. Abstract
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 Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. Abstract
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 Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Abstract
Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797. View Centers for Mendelian Genomics: A decade of facilitating gene discovery. Abstract
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 Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Abstract
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. View Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Abstract
Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022 08; 43(8):1012-1030. View Variant interpretation using population databases: Lessons from gnomAD. Abstract
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 Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. Abstract
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 Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Abstract
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 09; 597(7874):E3-E4. View Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Abstract
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 O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Abstract
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 Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Abstract
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. Front Genet. 2021; 12:674295. View Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. Abstract
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 06 09; 12(1):3505. View Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Abstract
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 06 07; 218(6). View Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. Abstract
A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 Jun 03; 108(6):1164. View A form of muscular dystrophy associated with pathogenic variants in JAG2. Abstract
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 Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. Abstract
A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 05 06; 108(5):840-856. View A form of muscular dystrophy associated with pathogenic variants in JAG2. Abstract
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 Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Abstract
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 Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Abstract
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 Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Abstract
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53. View Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Abstract
Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Nature. 2021 Feb; 590(7846):E54. View Author Correction: Transcript expression-aware annotation improves rare variant interpretation. Abstract
Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55. View Author Correction: A structural variation reference for medical and population genetics. Abstract
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 De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Abstract
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. View Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Abstract
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J Med Genet. 2021 09; 58(9):609-618. View Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. Abstract
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020 05 27; 11(1):2539. View Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Abstract
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 05 27; 11(1):2523. View Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Abstract
A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451. View A structural variation reference for medical and population genetics. Abstract
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443. View The mutational constraint spectrum quantified from variation in 141,456 humans. Abstract
Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458. View Transcript expression-aware annotation improves rare variant interpretation. Abstract
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. View Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Abstract
Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin. Dev Biol. 2020 08 01; 464(1):71-87. View Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin. Abstract
Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020 01; 30(1):62-71. View Identification of pathogenic variant enriched regions across genes and gene families. Abstract
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 Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. Abstract
Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations. JAMA. 2019 Oct 01; 322(13):1305-1306. View Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations. Abstract
Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240. View Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. Abstract
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 06 06; 104(6):1210-1222. View Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Abstract
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Abstract
The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2019 Feb 07; 104(2):356. View The Genetic Landscape of Diamond-Blackfan Anemia. Abstract
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812. View Insights into genetics, human biology and disease gleaned from family based genomic studies. Abstract
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 Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. Abstract
Reply to 'Selective effects of heterozygous protein-truncating variants'. Nat Genet. 2019 01; 51(1):3-4. View Reply to 'Selective effects of heterozygous protein-truncating variants'. Abstract
The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 12 06; 103(6):930-947. View The Genetic Landscape of Diamond-Blackfan Anemia. Abstract
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. View matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Abstract
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 Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. Abstract
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 Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Abstract
ClinVar data parsing. Wellcome Open Res. 2017; 2:33. View ClinVar data parsing. Abstract
Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017 10; 19(10):1151-1158. View Using high-resolution variant frequencies to empower clinical genome interpretation. Abstract
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). View Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Abstract
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239. View Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Abstract
Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May; 49(5):806-810. View Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Abstract
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum Mutat. 2017 05; 38(5):517-523. View Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Abstract
Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Abstract
Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91. View Analysis of protein-coding genetic variation in 60,706 humans. Abstract
A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. View A Clinician's perspective on clinical exome sequencing. Abstract
Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016 Apr 22; 352(6284):474-7. View Health and population effects of rare gene knockouts in adult humans with related parents. Abstract
Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9. View Quantifying prion disease penetrance using large population control cohorts. Abstract
Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics. 2015 Oct; 16(4):307-14. View Mutations in ARID2 are associated with intellectual disabilities. Abstract
Turner syndrome: update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 2015 Feb; 22(1):65-72. View Turner syndrome: update on biology and management across the life span. Abstract
Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis. J Cancer Ther. 2014 Dec 01; 5(14):1311-1324. View Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis. Abstract
Increased DNA methylation in the suicide brain. Dialogues Clin Neurosci. 2014 Sep; 16(3):430-8. View Increased DNA methylation in the suicide brain. Abstract
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 Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. Abstract
MethylomeDB: a database of DNA methylation profiles of the brain. Nucleic Acids Res. 2012 Jan; 40(Database issue):D1245-9. View MethylomeDB: a database of DNA methylation profiles of the brain. Abstract
Role of CpG context and content in evolutionary signatures of brain DNA methylation. Epigenetics. 2011 Nov; 6(11):1308-18. View Role of CpG context and content in evolutionary signatures of brain DNA methylation. Abstract
Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns. Genome Res. 2010 Jul; 20(7):972-80. View Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns. Abstract
Mammalian cytosine methylation at a glance. J Cell Sci. 2009 Aug 15; 122(Pt 16):2787-91. View Mammalian cytosine methylation at a glance. Abstract
Hyperconserved CpG domains underlie Polycomb-binding sites. Proc Natl Acad Sci U S A. 2007 Mar 27; 104(13):5521-6. View Hyperconserved CpG domains underlie Polycomb-binding sites. Abstract
Solvent isotope effects on alpha-glucosidase. Biochim Biophys Acta. 2004 Dec 01; 1703(1):63-7. View Solvent isotope effects on alpha-glucosidase. Abstract
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 Phosphorylation of serine 1387 in Brca1 is specifically required for the Atm-mediated S-phase checkpoint after ionizing irradiation. Abstract
KMT2E-Related Neurodevelopmental Disorder. GeneReviews®. 1993. View KMT2E-Related Neurodevelopmental Disorder Abstract