Article in Clinical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.9field-weighted citation impact, top 20% of its field
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
1 citing paper in PubMed, 3 citations in OpenAlex.
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
10 authors at 6 institutions in 3 countries.
Khurram LiaqatDepartment of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.ORCID 0000-0002-0792-5773
Thashi BharadwajDepartment of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
Khadim ShahDepartment of Biotechnology, COMSATS University Islamabad, Islamabad, Khyber Pakhtunkhwa, Pakistan.ORCID 0000-0001-9464-9262
Abdul NasirDepartment of Anesthesiology, Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.ORCID 0000-0002-2339-3500
Anushree AcharyaDepartment of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
Saadullah KhanDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
Irfan UllahDepartment of Chemistry, Shaheed Benazir Bhutto University, Sheringal, Pakistan.
Isabelle SchrauwenDepartment of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
Wasim AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Suzanne M LealDepartment of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
Columbia University Irving Medical Center · USCOMSATS University Islamabad · PKKohat University of Science and Technology · PKQuaid-i-Azam University · PKSecond Affiliated Hospital of Zhengzhou University · CNShaheed Benazir Bhutto University · PK
Funding
Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
Localization of Nonsyndromic Hearing Impairment GenesR01DC011651 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2011 to 2020
$2.9M
Unraveling the genetic architecture of cochleovestibular malformationsR01DC019908 · NIDCD · UNIVERSITY OF ARIZONA · PI Isabelle Veerle Suzanne Schrauwen · 2022 to 2026
A short report with two affected siblings from consanguineous family born with intellectual disability, motor disability, language deficit, and hearing impairment and found to carry biallelic nonsense variant in KPTN gene known to be associated with KPTN gene related syndrome.
Indexed as
Hearing LossIntellectual DisabilityMotor DisordersPersons with DisabilitiesConsanguinityHumansMicrofilament ProteinsPedigreePhenotypeSyndromeKPTN protein, humanMicrofilament Proteins
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.
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. · full record | OpenQuestion