ArticleHGG advances2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Open access · goldAbstract read
In one paragraph
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed
2.4field-weighted citation impact, top 10% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 36 citations in OpenAlex.
- Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.Human molecular genetics · 2026Article
- Article
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family.Molecular genetics & genomic medicine · 2026Article
- GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.American journal of human genetics · 2026Article
- Robinow Syndrome Mimicking Congenital Adrenal Hyperplasia.JCEM case reports · 2026Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.Human molecular genetics · 2025Article
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.bioRxiv : the preprint server for biology · 2025Article
- Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Genome medicine · 2024Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.American journal of human genetics · 2024Article
- The origin and evolution of Wnt signalling.Nature reviews. Genetics · 2024Review
- Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome.Disease models & mechanisms · 2024Article
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.Genome medicine · 2024Article
- Dental abnormalities in rare genetic bone diseases: Literature review.Clinical anatomy (New York, N.Y.) · 2024Review
- ROR2-Related Skeletal Dysplasia Reveals Disrupted Chondrocyte Polarity through Modulation of BMP/TGF-β Signaling.Aging and disease · 2024Article
- The impact of the Turkish population variome on the genomic architecture of rare disease traits.Genetics in medicine open · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
51 authors at 20 institutions in 4 countries.
Chaofan ZhangDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Angad JollyDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Brian J ShayotaDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Juliana F MazzeuUniversity of Brasilia, Brasilia 70050, Brazil.
Haowei DuDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Moez DawoodDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Patricia Celestino SoperGeneDx Inc., Gaithersburg, MD 20878, USA.
Ariadne Ramalho de LimaUniversity of Brasilia, Brasilia 70050, Brazil.
Bárbara Merfort FerreiraUniversity of Brasilia, Brasilia 70050, Brazil.
Zeynep Coban-AkdemirDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Janson WhiteDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Deborah ShearsOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
Fraser Robert ThomsonCardiothoracic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
Sarah Louise DouglasNHS Lothian, Edinburgh EH1 3EG, UK.
Andrew WainwrightOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
Kathryn BaileyPediatric Rheumatology, Nuffield Orthopedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
Paul WordsworthNuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Botnar Research Centre, Oxford OX3 7LD, UK.
Mike OldridgeOxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Tracy LesterOxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Alistair D CalderRadiology Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.
Katja DumicDepartment of Pediatric Endocrinology and Diabetes, University Clinical Center Zagreb, Zagreb 10000, Croatia.
Siddharth BankaDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9WL, UK.
Dian DonnaiManchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
Shalini N JhangianiHuman Genome Sequencing Center, BCM, Houston, TX 77030, USA.
Lorraine PotockiDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Wendy K ChungDepartment of Pediatrics and Medicine, Columbia University, NY 10032, USA.
Sara MoraGeneDx Inc., Gaithersburg, MD 20878, USA.
Hope NorthrupDepartment of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Myla AshfaqDepartment of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Kati MasonGeneDx Inc., Gaithersburg, MD 20878, USA.
Lynda C PollackArnold Palmer Hospital for Children, Orlando, FL 32806, USA.
Allyn McConkie-RosellDivision of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA.
Wei KellyDivision of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA.
Marie McDonaldDivision of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA.
Natalie S HauserMedical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA.
Peter LeahyCook Children's Hospital, Fort Worth, TX 76104, USA.
Cynthia M PowellDivision of Pediatric Genetics and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.
Raquel BoyState University of Rio de Janeiro, Rio de Janeiro 21941, Brazil.
Rachel Sayuri HonjoUnidade de Genética, Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, University of Sao Paulo, São Paulo 05508, Brasil.
Fernando KokMendelics Análise Genômica, São Paulo 04013, Brasil.
Lucia R MartelliDepartment of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, São Paulo 05508, Brazil.
Vicente Odone FilhoInstituto de Tratamento do Câncer Infantil, São Paulo University Medical School, Hospital Israelita Albert Einstein, São Paulo 05508, Brasil.
Genomics England Research ConsortiumGenomics England and William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Donna M MuznyHuman Genome Sequencing Center, BCM, Houston, TX 77030, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Pengfei LiuDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
V Reid SuttonDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Claudia M B CarvalhoDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Oxford University Hospitals NHS Trust · GBDuke Medical Center · USUniversidade de Brasília · BRUniversity of Manchester · GBArnold Palmer Hospital for Children · USBaylor College of Medicine · USMemorial Hermann · USNHS Lothian · GBNuffield Orthopaedic Centre · GBTexas Children's Hospital · USBaylor Genetics · USCook Children's Medical Center · USGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRHospital Israelita Albert Einstein · BRInova Fairfax Hospital · USPacific Northwest Diabetes Research Institute · USSt Mary's Hospital · GBThe University of Texas Health Science Center at Houston · USUniversidade de São Paulo · BR
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MMEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MUncovering inversion formation in the human genome and its impact to disease.R01GM132589 · NIGMS · PACIFIC NORTHWEST RESEARCH INSTITUTE · PI FONSECA, CLAUDIA CARVALHO · 2020 to 2024
$3.5MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kDiscovery and functional characterization of genic variants leading to Robinow syndrome and related skeletal dysplasias.R03HD092569 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI FONSECA, CLAUDIA CARVALHO, SUTTON, VERNON R · 2018 to 2019
$238kNHGRI NIH HHS K08 HG008986NHGRI NIH HHS UM1 HG006542NICHD NIH HHS R03 HD092569NIGMS NIH HHS R01 GM132589NIGMS NIH HHS T32 GM007526NINDS NIH HHS R35 NS105078Wellcome Trust
Abstract
Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (
Indexed as
DVL2genotype-phenotype correlationHPO termsindel mutationsmolecular diagnosisquantitative phenotyping cluster heatmapscrew-tail breed dogsskeletal dysplasiatraits and OMIM clinical synopsis
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
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.