ArticleAmerican journal of human genetics2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 21 papers.
0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
1.5field-weighted citation impact, top 17% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
- Pathogenic variants in the human TONSL protein associated with SPONASTRIME dysplasia impair protein dimerization and DNA repair.Science advances · 2026Article
- Functional validation using a zebrafish model reclassifies the rare COL1A2 p.Gly418Ala variant as a cause of Osteogenesis Imperfecta.Scientific reports · 2026Article
- TONSOKU prevents the formation of large tandem duplications and restrains ATR-WEE1 checkpoint activation.Nature communications · 2026Article
- TONSL suppresses polymerase theta-dependent tandem duplications through chromatin-guided repair.Nature communications · 2026Article
- A case report of SPONASTRIME dysplasia with novel TONSL mutation: genetic analysis, clinical manifestations, and the effect of growth hormone treatment.Human molecular genetics · 2025Article
- Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.HemaSphere · 2025Article
- The TONSL-MMS22L complex and FANCM form an interdependent complex on chromatin to counter replication stress.bioRxiv : the preprint server for biology · 2025Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads.Communications biology · 2023Article
- Unraveling DNA Repair Processes In Vivo: Insights from Zebrafish Studies.International journal of molecular sciences · 2023Review
- Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.Life science alliance · 2023Article
- Oncogenic Impact of TONSL, a Homologous Recombination Repair Protein at the Replication Fork, in Cancer Stem Cells.International journal of molecular sciences · 2023Article
- TONSL Is an Immortalizing Oncogene and a Therapeutic Target in Breast Cancer.Cancer research · 2023Article
- The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.Human molecular genetics · 2022Article
- The Role of the TSK/TONSL-H3.1 Pathway in Maintaining Genome Stability in Multicellular Eukaryotes.International journal of molecular sciences · 2022Review
- Centers for Mendelian Genomics: A decade of facilitating gene discovery.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Review
- Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2022Observational
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
- Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.Orphanet journal of rare diseases · 2021Article
- Zebrafish Models for Human Skeletal Disorders.Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
60 authors at 20 institutions in 8 countries.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
John J ReynoldsInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Nissan Vida BaratangCentre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T1J4, Canada.
Jennifer B PhillipsInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Jeremy WegnerInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Ashley McFarquharCentre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T1J4, Canada.
Martin R HiggsInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Audrey E ChristiansenDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Denise G LanzaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
John R SeavittDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Mahim JainDepartment of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Xiaohui LiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
David A ParryMedical Research Council Institute of Genetics & Molecular Medicine, the University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
Vandana RamanDivision of Pediatric Endocrinology and Diabetes, University of Utah, Salt Lake City, UT 84112, USA.
David ChitayatThe Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON M5G 1Z5, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
Ivan K ChinnDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Pediatric Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, TX 77030, USA.
Alison A BertuchDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lefkothea KaravitiDivision of Diabetes and Endocrinology, Texas Children's Hospital, Houston, TX 77030, USA.
Alan E SchlesingerDepartment of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA; Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA.
Dawn EarlSeattle Children's Hospital, Seattle, WA 98195, USA.
Michael BamshadSeattle Children's Hospital, Seattle, WA 98195, USA; Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Ravi SavarirayanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, VIC 3052, Australia.
Harsha DoddapaneniHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Donna MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Christine M EngDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Weimin BiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.
Lisa EmrickDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
John PostlethwaitInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Monte WesterfieldInstitute of Neuroscience, University of Oregon, Eugene, OR 97403, USA.
Mary E DickinsonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Arthur L BeaudetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Emmanuelle RanzaService of Genetic Medicine, University of Geneva Medical School, Geneva University Hospitals, 1205 Geneva, Switzerland.
Celine HuberDepartment of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris 75015, France.
Valérie Cormier-DaireDepartment of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris 75015, France.
Wei ShenAssociated Regional and University Pathologists Laboratories, Salt Lake City, UT 84108, USA; Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA.
Rong MaoAssociated Regional and University Pathologists Laboratories, Salt Lake City, UT 84108, USA; Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA.
Jason D HeaneyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jordan S OrangeDivision of Pediatric Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, TX 77030, USA; Current affiliation: Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York Presbyterian, New York, NY 10032, USA.
University of Washington Center for Mendelian Genomics
Undiagnosed Diseases Network
Débora BertolaClinical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, SP 05508-0900, Brazil.
Guilherme L YamamotoClinical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, SP 05508-0900, Brazil.
Wagner A R BaratelaClinical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil.
Merlin G ButlerDepartments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, KS 66160, USA.
Asim AliDepartment of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
Mehdi AdeliDepartment of Allergy and Immunology, Sidra Medicine, Hamad Medical Corporation, Weill Cornell Medicine, Qatar, Doha, Qatar.
Daniel H CohnDepartment of Molecular, Cell, and Developmental Biology and Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Deborah KrakowDepartment of Orthopaedic Surgery, Department of Human Genetics and Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Andrew P JacksonMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Melissa LeesNorth East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.
Amaka C OffiahDepartment of Oncology and Metabolism, Academic Unit of Child Health, University of Sheffield, Sheffield S10 2TH, UK.
Colleen M CarlstonAssociated Regional and University Pathologists Laboratories, Salt Lake City, UT 84108, USA; Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA.
John C CareyDepartment of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84112, USA.
Grant S StewartInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Philippe M CampeauCentre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T1J4, Canada.
Brendan LeeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: blee@bcm.edu.
Baylor College of Medicine · USUniversity of Oregon · USTexas Children's Hospital · USUniversity of Utah · USUniversity of Birmingham · GBCentre Hospitalier Universitaire Sainte-Justine · CABaylor Genetics · USColumbia University · USHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRSeattle Children's Hospital · USUniversidade de São Paulo · BRUniversité de Montréal · CAUniversity College London · GBUniversity of California, Los Angeles · USAssistance Publique – Hôpitaux de Paris · FRGreat Ormond Street Hospital · GBHamad Medical Corporation · QAHospital for Sick Children · CAInserm · FRKennedy Krieger Institute · US
Funding
UM1HG006348: Cas9 Genome Integrity Supplemental ProposalUM1HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Jason D. Heaney, Chih-Wei Logan Hsu · 2016 to 2026
$47.5MUtah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MMEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, NEUL, JEFFREY L · 2014 to 2019
$7.8MGENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MWhat comes next? Engaging stakeholders in governance of participant data and relationships during the sunset of large genomic medicine research initiativesU01HG010218 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2018 to 2022
$6.3MResources for Teleost Gene Duplicates and Human DiseaseR01OD011116 · OD · UNIVERSITY OF OREGON · PI POSTLETHWAIT, JOHN H. · 2012 to 2020
$5.4MExome sequencing in the skeletal dysplasiasR01AR062651 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H · 2013 to 2017
$1.7MCancer Research UK C17183/A23303CIHRMedical Research Council MC_PC_U127580972Medical Research Council MC_UU_00007/5Medical Research Council MR/P009085/1NCATS NIH HHS UL1 TR002538NHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG010218NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006348NHGRI NIH HHS UM1 HG006493NIAID NIH HHS R01 AI120989NIAMS NIH HHS R01 AR062651NIAMS NIH HHS R01 AR066124NICHD NIH HHS U54 HD083092NIDDK NIH HHS K08 DK106453NIGMS NIH HHS T32 GM007526NIH HHS R01 OD011116NINDS NIH HHS U54 NS093793
Abstract
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. Although an autosomal-recessive inheritance pattern has been hypothesized, pathogenic variants in a specific gene have not been discovered in individuals with SPONASTRIME dysplasia. Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. The finding of early embryonic lethality in a Tonsl
Indexed as
Chromosomal InstabilityDNA DamageGenetic VariationAdolescentAdultAllelesAnimalsCells, CulturedChildChild, PreschoolExome SequencingFemaleFibroblastsGenetic Association StudiesHumansMiceNF-kappa BTONSL protein, humanDNA repairDNA replicationexome sequencingskeletal dysplasiaSPONASTRIME dysplasiaTONSL
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Registered trials
NCT02450851ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.