Evidence map›Paper›PMID 40225942›Full record

ArticleHuman mutation2024

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of

Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D J Labonne, Dilan Wellalage Don and 9 more

Erratum issuedAbstract read
In one paragraph

Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Seda Susgun *Department of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.ORCID 0000-0001-9689-3111
Afif Ben-Mahmoud *Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.ORCID 0000-0003-3520-8015
Franz RüschendorfMax Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.ORCID 0000-0001-5640-810X
Bonsu KuDisease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Republic of Korea.ORCID 0000-0003-1784-8975
Syeda Iqra HussainDepartment of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.ORCID 0000-0003-1589-7626
Solveig SchulzZentrum für Humangenetik, Tübingen, Germany.ORCID 0009-0004-4522-4486
Oliver PukZentrum für Humangenetik, Tübingen, Germany.ORCID 0000-0002-4302-6513
Saskia BiskupZentrum für Humangenetik, Tübingen, Germany.ORCID 0000-0002-1573-861X
Jonathan D J LabonneSalioGen Therapeutics, Lexington, MA, USA.
Dilan Wellalage DonDepartment of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.ORCID 0000-0003-3372-0349
Vijay GuptaNeurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.ORCID 0000-0002-3613-6378
Tae-Ik ChoiDepartment of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.ORCID 0000-0003-2667-3804
Saadullah KhanDepartment of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.ORCID 0000-0001-5037-1473
Naveed WasifInstitute of Human Genetics, University of Ulm, Ulm, Germany.ORCID 0000-0002-3455-8833
Yves LacassieDepartment of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.ORCID 0000-0002-6231-4967
Lawrence C LaymanSection of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, USA.ORCID 0000-0002-7369-9575
Sibel Aylin Ugur IseriDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye.ORCID 0000-0002-5790-6853
Cheol-Hee KimDepartment of Biology, Chungnam National University, Daejeon 34134, Republic of Korea.ORCID 0000-0002-3019-0699
Hyung-Goo KimNeurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.ORCID 0000-0003-4497-4686

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI-anchored proteins (GPI-APs) with crucial roles in diverse biological processes. The highly conserved biosynthesis of GPI-APs involves precise steps with at least 21 genes, categorized as

Indexed as

Abnormalities, MultipleIntellectual DisabilityMegalencephalyPhosphorus Metabolism DisordersGenetic Association StudiesHumansMaleMutation, MissensePedigreePhenotype

Identifiers

PMID40225942
PMCPMC11919034

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Registered trials

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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.