Evidence map›Paper›PMID 39975911›Full record

ArticleResearch square2025

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.

Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden, Dana Simpson, Linda Golkar, Miranda Pg Zalusky, Angela L Miller, Araceli Rodriguez and 17 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2025. 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

5 · Who and what money

Authors and funding

27 authors.

Monica H WojcikBoston Children's Hospital and Harvard Medical School, Boston, MA.
Robin D ClarkDivision of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA.ORCID 0000-0002-7277-4975
Abdallah F EliasDepartment of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601.
Casie A GenettiBoston Children's Hospital and Harvard Medical School, Boston, MA.
Jill A MaddenBoston Children's Hospital and Harvard Medical School, Boston, MA.
Dana SimpsonRandall Children's Hospital, Portland, OR.
Linda GolkarDivision of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA.
Miranda Pg ZaluskyDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.ORCID 0000-0002-4721-7499
Angela L MillerDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.
Araceli RodriguezDivision of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA.
Joy GoffenaDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.ORCID 0000-0002-2346-2879
Camille A DashBoston Children's Hospital and Harvard Medical School, Boston, MA.
Nikhita DamarajuDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.
Sophia B GibsonDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.ORCID 0000-0001-9839-9045
Sophia Hr StorzDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.
Zach AndersonDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.
Jonas A GustafsonDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.ORCID 0000-0002-5748-905X
Isabelle ThiffaultChildren's Mercy Hospital, Kansas City, MO.ORCID 0000-0001-7987-6731
Emily G FarrowChildren's Mercy Hospital, Kansas City, MO.ORCID 0000-0002-8864-7073
Tomi PastinenChildren's Mercy Hospital, Kansas City, MO.ORCID 0000-0003-4016-5021
Jasmine LinBoston Children's Hospital and Harvard Medical School, Boston, MA.
Jennifer HuangBoston Children's Hospital and Harvard Medical School, Boston, MA.
Alan H BeggsBoston Children's Hospital and Harvard Medical School, Boston, MA.ORCID 0000-0001-8818-0568
Pankaj B AgrawalBoston Children's Hospital and Harvard Medical School, Boston, MA.
Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
David T MillerBoston Children's Hospital and Harvard Medical School, Boston, MA.
Danny E MillerDivision of Biological Sciences, University of Montana, Missoula, MT 59812, USA.ORCID 0000-0001-6096-8601

Funding

Stanford Mendelian Genomics Research CenterU01HG011762 · NHGRI · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, Stephen Montgomery · 2021 to 2026
$16.7M
University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8M
University of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
Pediatric Mendelian Genomics Research CenterU01HG011745 · NHGRI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Eric J. Vilain · 2021 to 2026
$13.3M
Long-read DNA and RNA sequencing to identify disease-causing genetic variation and streamline testingDP5OD033357 · OD · UNIVERSITY OF WASHINGTON · PI MILLER, DANNY ERWIN · 2022 to 2025
$1.9M
The Burden of Genetic Disorders in Infant MortalityK23HD102589 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI WOJCIK, MONICA HSIUNG · 2020 to 2024
$840k
NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U01 HG011745NHGRI NIH HHS U01 HG011755NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U01 HG011762NHGRI NIH HHS U24 HG011746NICHD NIH HHS K23 HD102589NIH HHS DP5 OD033357
6 · The paper itself

Abstract

Incontinentia pigmenti (IP) is caused by loss-of-function variants in

Identifiers

PMID39975911
PMCPMC11838753

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.