Evidence map›Paper›PMID 32376645›Full record

ReviewCold Spring Harbor molecular case studies2020

Hypogonadotropic hypogonadism due to variants in

Wanxue Xu, Lacey Plummer, Richard Quinton, Francesca Swords, William F Crowley, Stephanie B Seminara, Ravikumar Balasubramanian

Open access · diamondAbstract readCase ReportsReview
In one paragraph

Review in Cold Spring Harbor molecular case studies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026
    Review
  2. Article
  3. Article
  4. Article
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

7 authors at 3 institutions in 2 countries.

Wanxue XuHarvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Lacey PlummerHarvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Richard QuintonNewcastle-upon-Tyne Hospitals Foundation NHS Trust (Royal Victoria Infirmary) and Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne NE1 7RU, United Kingdom.
Francesca SwordsClinical Research and Trials Unit, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich NR4 7UY, United Kingdom.
William F CrowleyHarvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Stephanie B SeminaraHarvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Ravikumar BalasubramanianHarvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Massachusetts General Hospital · USNewcastle University · GBNorfolk and Norwich University Hospitals NHS Foundation Trust · GB

Funding

The Genetic Determinants of Human GNRH DeficiencyP50HD028138 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI CROWLEY, WILLIAM FRANCIS · 2014 to 2020
$12.9M
Kisspeptin Physiology in the HumanR01HD043341 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI SEMINARA, STEPHANIE BETH · 2003 to 2019
$6.3M
Towards Curative Therapies for Hypogonadotropic DiseasesR37HD043341 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI Stephanie Beth Seminara · 2020 to 2026
$5.8M
Integrative Approaches to Decipher Genetic Determinants of Disease Penetrance in Prokineticin 2 Pathway Related Human Reproductive DisordersR01HD096324 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI BALASUBRAMANIAN, RAVIKUMAR · 2018 to 2022
$1.7M
Biologic Roles of Novel Axonal Guidance Genes in Isolated GnRH DeficiencyK23HD077043 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI BALASUBRAMANIAN, RAVIKUMAR · 2014 to 2018
$759k
NICHD NIH HHS K23 HD077043NICHD NIH HHS P50 HD028138NICHD NIH HHS R01 HD043341NICHD NIH HHS R01 HD096324NICHD NIH HHS R37 HD043341
6 · The paper itself

Abstract

Biallelic pathogenic variants in

Indexed as

Genetic Association StudiesMutationAllelesAmino Acid SubstitutionCataractDNA Mutational AnalysisExome SequencingFemaleGenotypeHumansHypogonadismInfantInfant, NewbornIntellectual DisabilityPedigreePhenotypeRAB3GAP2 protein, humanrab3 GTP-Binding Proteinshypothalamic gonadotropin-releasing hormone (GNRH) deficiency

Identifiers

PMID32376645
PMCPMC7304352
OpenAlexW3022426355

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.