Evidence map›Paper›PMID 36798250›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Kimberly K Diaz Perez, Sydney Chung, S Taylor Head, Michael P Epstein, Jacqueline T Hecht, George L Wehby, Seth M Weinberg, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. 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, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 2 countries.

Kimberly K Diaz PerezDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Sydney ChungDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
S Taylor HeadDepartment of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA.
Michael P EpsteinDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Jacqueline T HechtDepartment of Pediatrics, McGovern Medical, School and School of Dentistry, UT Health at Houston, Houston, TX 77030, USA.
George L WehbyDepartment of Health Management and Policy, University of Iowa, Iowa City, IA, 52242, USA.
Seth M WeinbergCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, 15213, USA.
Jeffrey C MurrayDepartment of Pediatrics, University of Iowa, Iowa City, IA, 52242, USA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, 15213, USA.
Elizabeth J LeslieDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Emory University · USUniversity of Iowa · USUniversity of Pittsburgh · USThe University of Texas Health Science Center at Houston · US

Funding

Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
PHENOTYPE AND GENETICS IN OROFACIAL CLEFT FAMILIESP50DE016215 · NIDCR · UNIVERSITY OF IOWA · PI LOVETT, MICHAEL · 2004 to 2008
$10.1M
PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008490 · NIGMS · EMORY UNIVERSITY · PI BOSS, JEREMY M. · 1993 to 2022
$8.0M
MOLECULAR STUDIES IN NONSYNDROMIC CLEFT LIP AND PALATER01DE011931 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BLANTON, SUSAN HALLORAN, HECHT, JACQUELINE T · 1999 to 2017
$7.6M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
Cleft Lip Genetics: A Multi Center International ConsortiumR01DE014667 · NIDCR · UNIVERSITY OF IOWA · PI LIDRAL, ANDREW C · 2001 to 2009
$4.2M
Genomics of Cleft PalateR01DE030342 · NIDCR · EMORY UNIVERSITY · PI ELIZABETH JANE LESLIE-CLARKSON · 2021 to 2026
$3.5M
Genetic modifiers of Van der Woude syndromeR01DE028342 · NIDCR · EMORY UNIVERSITY · PI LESLIE-CLARKSON, ELIZABETH JANE · 2019 to 2023
$2.7M
Health outcomes and improved phenotypic characterization of cleft lip and palateR01DD000295 · DD · UNIVERSITY OF IOWA · PI WEHBY, GEORGE L · 2007 to 2009
$1.4M
GENETIC MAPPING STUDIES OF ORAL-FACIAL CLEFTS IN CHINAR01DE009886 · NIDCR · VIRGINIA COMMONWEALTH UNIVERSITY · PI MARAZITA, MARY L · 1992 to 2002
$1.0M
Genetics of Craniofacial Disorders and Related PhenotypesR00DE025060 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LESLIE-CLARKSON, ELIZABETH JANE · 2017 to 2019
$732k
Sequence-based discovery of risk and modifier variants for orofacial cleftsR03DE027103 · NIDCR · EMORY UNIVERSITY · PI LESLIE-CLARKSON, ELIZABETH JANE · 2018 to 2019
$312k
NCBDD CDC HHS R01 DD000295NHLBI NIH HHS HHSN268201700006CNIDCR NIH HHS P50 DE016215NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE009886NIDCR NIH HHS R01 DE011931NIDCR NIH HHS R01 DE014667NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE028342NIDCR NIH HHS R01 DE030342NIDCR NIH HHS R03 DE027103NIDCR NIH HHS R37 DE008559NIGMS NIH HHS T32 GM008490
6 · The paper itself

Abstract

Whole-exome sequencing (WES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for WES in families where the inheritance patterns are less clear, and a complex etiology is suspected. Orofacial clefts (OFCs) are highly heritable birth defects with both Mendelian and complex etiologies. The phenotypic spectrum of OFCs may include overt clefts and several subclinical phenotypes, such as discontinuities in the

Identifiers

PMID36798250
PMCPMC9934724
OpenAlexW4319341096

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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.