Observational study in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
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.
2 · The registry
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.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
25 authors.
Sander PajusaluGenetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia.ORCID 0000-0002-5435-0781
Mari-Anne ValsDepartment of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, L. Puusepa Street 2, Tartu, Estonia.
Mercedes SerranoPediatric Neurology Department and Clinical Biochemistry and Genetics Units, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.ORCID 0000-0002-2056-2428
Peter WittersDepartment of Paediatrics, Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium.ORCID 0000-0002-9264-6153
Anna CechovaDepartment of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID 0000-0002-5802-6006
Tomáš HonzikDepartment of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID 0000-0003-4300-2519
Andrew C EdmondsonDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.ORCID 0000-0003-0313-0743
Can FiciciogluDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.ORCID 0000-0002-8331-9804
Rita BaroneChild Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.ORCID 0000-0001-6302-2686
Pascale De LonlayReference Center for Inborn Errors of Metabolism, Necker Hospital, APHP, University of Paris, Inserm UMR_S1163, INEM, and Institut Imagine, Filière G2M, MetabERN, Paris, France.ORCID 0000-0003-2971-726X
Claire-Marine BératBiochemistry and Genetics Department, Bichat-Claude Bernard Hospital, AP-HP, University of Paris and Inserm U1149, Paris, France.ORCID 0000-0001-9861-3179
Sandrine Vuillaumier-BarrotBiochemistry and Genetics Department, Bichat-Claude Bernard Hospital, AP-HP, University of Paris and Inserm U1149, Paris, France.ORCID 0009-0007-4903-5035
Christina LamCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.ORCID 0000-0003-4705-6434
Marc C PattersonDepartments of Neurology and Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0002-1116-126X
Mirian C H JanssenDepartment of Internal Medicine, Radboud University Medical Centre, Nijmegen, Netherlands.
Esmeralda MartinsCentro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.ORCID 0000-0002-9247-9391
Dulce QuelhasCentro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.ORCID 0000-0001-9989-9236
Jolanta Sykut-CegielskaDepartment of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.ORCID 0000-0003-0762-3721
Jehan MousaDepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0002-1330-5837
Roser UrreiztiU-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.ORCID 0000-0003-3617-7134
Eva MoravaDepartments of Neurology and Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0001-7441-700X
Katrin ÕunapGenetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia.ORCID 0000-0002-4594-6364
Funding
Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI MORAVA-KOZICZ, EVA · 2019 to 2023
$8.2M
NINDS NIH HHS U54 NS115198
6 · The paper itself
Abstract
We report on the largest single dataset of patients with PMM2-CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations. A total of 137 participants had complete genotype information, representing 60 unique variants, of which the most common were found to be p.Arg141His in 58.4% (
Indexed as
Congenital Disorders of GlycosylationGenetic Association StudiesPhosphotransferases (Phosphomutases)AdolescentAdultChildChild, PreschoolFemaleGenotypeHumansInfantMaleMutationPhenotypeYoung Adultphosphomannomutase 2, humanPhosphotransferases (Phosphomutases)congenital disorders of glycosylationgenetic variationsgenotype/phenotype correlationsinherited metabolic disordersnatural historyphosphomannomutase 2-CDGPMM2
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 Socratic graph.
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. · full record | Socratic