Evidence map›Paper›PMID 41929340›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Whole Genome Sequencing Reveals a

Sydney Collins, Ibrahim Bah, Ryan Pysar, David Mowat, Tychele N Turner, Sumantra Chatterjee

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

6 authors.

Sydney CollinsDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0009-0003-8070-4939
Ibrahim BahDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0009-0008-8941-4539
Ryan PysarSchool of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Pediatrics, University of New South Wales, Sydney, NSW, Australia.
David MowatSchool of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Pediatrics, University of New South Wales, Sydney, NSW, Australia.
Tychele N TurnerDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0001-8246-6477
Sumantra ChatterjeeCenter for Human Genetics & Genomics, New York University Grossman School of Medicine New York, NY 10016, USA.ORCID 0000-0002-5076-1698

Funding

Why do Down Syndrome patients have high risk of Hirschsprung disease?R01DK135089 · NIDDK · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI, Sumantra Chatterjee · 2022 to 2026
$4.2M
Noncoding mutations in neurodevelopmental disordersR01MH126933 · NIMH · WASHINGTON UNIVERSITY · PI Tychele Naomi Turner · 2022 to 2026
$3.6M
Computational identification of Hirschsprung disease susceptibility genesR03HD116004 · NICHD · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI CHATTERJEE, SUMANTRA · 2024 to 2024
$339k
A Comprehensive De Novo Variant Callset for the Gabriella Miller Kids First Pediatric Research Program Birth Defect DataR03HD116062 · NICHD · WASHINGTON UNIVERSITY · PI TURNER, TYCHELE NAOMI · 2024 to 2024
$311k
NICHD NIH HHS R03 HD116004NICHD NIH HHS R03 HD116062NIDDK NIH HHS R01 DK135089NIMH NIH HHS R01 MH126933
6 · The paper itself

Abstract

Mowat Wilson syndrome (MWS) is a rare neurodevelopmental disorder caused by mostly heterozygous loss-of-function variants in

Identifiers

PMID41929340
PMCPMC13042135

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.