Evidence map›Paper›PMID 32914578›Full record

ArticleEMBO molecular medicine2020

ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.

Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Casey Tsimbal, Baul Yoon, Nikkola Carmichael, Richard L Maas, Justin Cotney and 2 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in EMBO molecular medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

19 citing papers in PubMed, 35 citations in OpenAlex.

  1. Retinoic Acid Informs the Positional Identity of Frontonasal Neural Crest Cells Through Alx Family of Transcription Factors.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Frontiers in physiology · 2026
    Article
  6. eLife · 2025
    Article
  7. Article
  8. bioRxiv : the preprint server for biology · 2025
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Frontiers in cell and developmental biology · 2022
    Article
  18. Review
  19. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 5 institutions in 2 countries.

Jonathan Pini *Center for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Janina Kueper *Center for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Yiyuan David HuCenter for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Kenta KawasakiCenter for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Pan YeungCenter for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Casey TsimbalCenter for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Baul YoonDepartments of Integrative Biology, Neuroscience, and Genetics Ph.D. Training Program, University of Wisconsin-Madison, Madison, WI, USA.
Nikkola CarmichaelDepartment of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Richard L MaasDepartment of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Justin CotneyGenetics and Genome Sciences, UConn Health, Farmington, CT, USA.
Yevgenya GrinblatDepartments of Integrative Biology, Neuroscience, and Genetics Ph.D. Training Program, University of Wisconsin-Madison, Madison, WI, USA.
Eric C LiaoCenter for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0001-6385-7448
Massachusetts General Hospital · USBrigham and Women's Hospital · USUniversity of Wisconsin System · USUConn Health · USUniversity of Bonn · DE

Funding

RAPID GENE DISCOVERYP01GM061354 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI MORTON, CYNTHIA CASSON · 2001 to 2019
$24.3M
PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM007133 · NIGMS · UNIVERSITY OF WISCONSIN-MADISON · PI PERNA, NICOLE T · 1985 to 2023
$16.5M
Unraveling mechanisms of genome regulation to understand and improvehuman healthR35GM119465 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI COTNEY, JUSTIN LEE · 2016 to 2025
$3.9M
Rapid Identification and Validation of Human Craniofacial Development GenesU01DE024443 · NIDCR · BRIGHAM AND WOMEN'S HOSPITAL · PI MAAS, RICHARD L · 2014 to 2018
$2.9M
NIDCR NIH HHS U01 DE024443NIGMS NIH HHS P01 GM061354NIGMS NIH HHS T32 GM007133Shriners Hospital for Children 84701-BOS-19Shriners Hospital for Children 85112
6 · The paper itself

Abstract

A pedigree of subjects presented with frontonasal dysplasia (FND). Genome sequencing and analysis identified a p.L165F missense variant in the homeodomain of the transcription factor ALX1 which was imputed to be pathogenic. Induced pluripotent stem cells (iPSC) were derived from the subjects and differentiated to neural crest cells (NCC). NCC derived from ALX1

Indexed as

Craniofacial AbnormalitiesNeural CrestAnimalsCell MovementFaceHumansZebrafishALX1frontonasal dysplasiaiPSCneural crest cellszebrafish

Identifiers

PMID32914578
PMCPMC7539331
OpenAlexW3084574727

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.