Evidence map›Paper›PMID 42761500›Full record

ArticleHuman mutation2026

Zygosity-Dependent Phenotypic Spectrum of

Sajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, Mohammad Salimi Asl, Hamid Galehdari, Masoud Garshasbi, Emran Esmaeilzadeh, Raziyeh Khalesi, Payman Jamali, Farshid Parvini and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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

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

30 authors.

Sajjad BiglariFarin Genetics Laboratory, Tehran, Iran.ORCID https://orcid.org/0000-0002-8206-5515
Halimeh RezaeiDepartment of Genetics, Faculty of Biological Sciences and Technology, Shahid Ashrafi Esfahani University, Isfahan, Iran, ashrafi.ac.ir.
Elnaz AsadollahzadehMultiple Sclerosis Research Center, Neuroscience Institute, Tehran University of Medical Sciences (TUMS), Tehran, Iran, tums.ac.ir.ORCID https://orcid.org/0000-0001-8552-4783
Mohammad Salimi AslMedical Genetics Department, Genetic Diagnosis Center, Colife Integrated Medical Laboratories, Tehran, Iran.
Hamid GalehdariDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran, scu.ac.ir.ORCID https://orcid.org/0000-0001-6829-8550
Masoud GarshasbiDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran, modares.ac.ir.ORCID https://orcid.org/0000-0002-5508-7903
Emran EsmaeilzadehGenetics Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran.
Raziyeh KhalesiDepartment of Medical Genetics, DeNA Laboratory, Tehran, Iran.
Payman JamaliThe Genetic Counseling Center, Shahroud Welfare Organization, Shahroud, Iran.ORCID https://orcid.org/0000-0001-8041-5174
Farshid ParviniDepartment of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran, semnan.ac.ir.ORCID https://orcid.org/0000-0002-8136-3254
Gholamreza ShariatiDepartment of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran, ajums.ac.ir.
Niloofar ChamanrouDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran, scu.ac.ir.ORCID https://orcid.org/0009-0009-6221-8359
Reza SalighehGenetic Counseling Center, State Welfare Organization, Qom, Iran.
Atefeh Sohanforooshan MoghaddamFarin Genetics Laboratory, Tehran, Iran.
Hamid Reza Khorram KhorshidGenetics Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran.ORCID https://orcid.org/0000-0003-0368-9715
Sepideh ShohaniDepartment of Medical Biotechnology, School of Allied Medical Sciences, Iran University of Medical Science, Tehran, Iran, iums.ac.ir.
Samira NafarDepartment of Molecular Biology and Anatomical Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.ORCID https://orcid.org/0000-0002-0553-8753
Atieh EslahiDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran, mums.ac.ir.
Mojtaba LotfiClinical Research Development Unit, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran, mums.ac.ir.
Behnoosh BakhshoodehDepartment of Dermatology, Mashhad University of Medical Sciences, Mashhad, Iran, mums.ac.ir.
Fatemeh HajizadehFaculty of Medicine, Torbat Heydariyeh University of Medical Sciences, Torbat Heydariyeh, Iran, thums.ac.ir.
Saeed AbtahiDepartment of Pediatric Cardiology, MMSC, Islamic Azad University, Mashhad, Iran, tiau.ac.ir.ORCID https://orcid.org/0000-0002-8278-2661
Reza Gharaei JomeheiFaculty of Medicine, Islamic Azad University, Mashhad, Iran, tiau.ac.ir.
Hassan VahidnezhadDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA, upenn.edu.ORCID https://orcid.org/0000-0003-4298-9147
Mehran Beiraghi ToosiRare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran, mums.ac.ir.ORCID https://orcid.org/0000-0002-0569-1117
Morteza HeidariMyelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran, tums.ac.ir.ORCID https://orcid.org/0000-0002-7487-569X
Hanieh MirzadehDepartment of Pediatrics, Imam Sajad Hospital, Iran University of Medical Science, Tehran, Iran, iums.ac.ir.ORCID https://orcid.org/0000-0003-2823-9796
Majid MojarradDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran, mums.ac.ir.ORCID https://orcid.org/0000-0001-8742-2844
Mina Mohammadi SarbandGenetic Counseling Center, State Welfare Organization, Tehran, Iran.
Ehsan Ghayoor KarimianiDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Variants in

Indexed as

Genetic Association StudiesNerve Tissue ProteinsNervous System MalformationsAdolescentAdultChildChild, PreschoolConsanguinityEpilepsyExome SequencingFemaleHomozygoteHumansInfantIranMaleNerve Tissue ProteinsReelin ProteinRELN protein, humanACMG/AMP variant classificationautosomal dominant lateral temporal epilepsyexome sequencinggenotype–phenotype correlationlissencephaly with cerebellar hypoplasiaReelinRELN

Identifiers

PMID42761500
PMCPMC13586675

What OpenQuestion holds

Textmetadata
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.