ArticleHGG advances2023
Rare variant enrichment analysis supports
Open access · goldAbstract read
In one paragraph
Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.0field-weighted citation impact, top 9% of its field
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.
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.
Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.Clinical genetics · 2026Review
- Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.Journal of medical genetics · 2026Article
- Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.Diagnostics (Basel, Switzerland) · 2026Review
- Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.Journal of assisted reproduction and genetics · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.Prenatal diagnosis · 2024Article
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review.Reproductive medicine and biologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 9 institutions in 5 countries.
Angad JollyDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Christelle BorelUniversity of Geneva Medical School, 1211 Geneva, Switzerland.
Na ChenDepartment of Obstetrics and Gynaecology, Beijing 100730, China.
Sen ZhaoDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases and Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Christopher M GrochowskiDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Ruizhi DuanDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Jawid M FatihDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Moez DawoodDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Sejal SalviHuman Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.
André KochUniversity of Tübingen, Department of Obstetrics and Gynecology, Tübingen, Germany.
Konstantinos RouskasInstitute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.
Stavros GlentisInstitute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.
Efthymios DeligeoroglouCenter for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens 11527, Greece.
Flora BacopoulouCenter for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens 11527, Greece.
Carol A WiseCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA.
Jennifer E DietrichDepartment of Obstetrics and Gynecology, Houston, TX, USA.
Ignatia B Van den VeyverDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Antigone S DimasInstitute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.
Sara BruckerUniversity of Tübingen, Department of Obstetrics and Gynecology, Tübingen, Germany.
V Reid SuttonDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Stylianos E AntonarakisUniversity of Geneva Medical School, 1211 Geneva, Switzerland.
Nan WuDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Zeynep H Coban-AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Lan ZhuDepartment of Obstetrics and Gynaecology, Beijing 100730, China.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.
Baylor College of Medicine · USAlexander Fleming Biomedical Sciences Research Center · GRBeijing Obstetrics and Gynecology Hospital · CNNational and Kapodistrian University of Athens · GRUniversity of Geneva · CHUniversity of Tübingen · DECentre for Research and Technology Hellas · GRChinese Academy of Medical Sciences & Peking Union Medical College · CNTexas Scottish Rite Hospital for Children · US
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MFrequency 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
$13.8MPreclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kHoward Hughes Medical InstituteNHGRI NIH HHS K08 HG008986NHGRI NIH HHS U01 HG011758NHGRI NIH HHS UM1 HG006542NICHD NIH HHS P50 HD103555NINDS NIH HHS R35 NS105078
Abstract
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, only
Indexed as
46, XX Disorders of Sex DevelopmentUrogenital AbnormalitiesCongenital AbnormalitiesFemaleHumansMullerian DuctsTranscription FactorsUterusGREB1L protein, humanTranscription FactorsAlu-Alu mediated rearrangementdevelopmental genomicsexonic deletion CNVgenitourinary developmenthuman phenotype ontologyinfertilityrare variant gene enrichmentsex-limited traittranscriptional regulation
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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.