Observational studyEBioMedicine2018
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Abstract readMulticenter StudyObservational Study
In one paragraph
Observational study in EBioMedicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
–field-weighted citation impact
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
23 citing papers in PubMed.
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Beyond GH stimulation tests: genetic heterogeneity and treatment response in children with diagnosed GH deficiency.Journal of the Endocrine Society · 2026Article
- Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.Hormone research in paediatrics · 2026Article
- Article
- Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.European journal of pediatrics · 2025Article
- Short Stature Due to a Novel Compound Heterozygous Mutation of theJCEM case reports · 2025Article
- The molecular basis of hypoprolactinaemia.Reviews in endocrine & metabolic disorders · 2024Review
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism.Genome medicine · 2024Article
- Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.Hormones (Athens, Greece) · 2024Article
- Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience".Annals of pediatric endocrinology & metabolism · 2024Article
- A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.Frontiers in endocrinology · 2023Article
- POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.Endocrinology · 2022Article
- A Novel Splice-Site Deletion in theGenes · 2022Article
- Congenital hypopituitarism due to novel compound heterozygousMolecular genetics and metabolism reports · 2021Article
- Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in theJournal of clinical research in pediatric endocrinology · 2021Article
- Advances in differential diagnosis and management of growth hormone deficiency in children.Nature reviews. Endocrinology · 2021Review
- A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.Molecular and cellular pediatrics · 2021Review
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.American journal of human genetics · 2021Article
- Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.The Journal of clinical endocrinology and metabolism · 2021Article
- Growth hormone deficiency and replacement in children.Reviews in endocrine & metabolic disorders · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Werner F BlumUniversity Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany; Center of Child and Adolescent Medicine, Justus Liebig University, Feulgenstrasse 12, 35392 Giessen, Germany. Electronic address: wernblum@gmail.com.
Jürgen KlammtUniversity Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany.
Serge AmselemSorbonne Université, Inserm UMR_S933, Département de Génétique, Hôpital Trousseau, AP-HP, 75012 Paris, France.
Heike M PfäffleUniversity Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany.
Marie LegendreSorbonne Université, Inserm UMR_S933, Département de Génétique, Hôpital Trousseau, AP-HP, 75012 Paris, France.
Marie-Laure SobrierSorbonne Université, Inserm UMR_S933, Département de Génétique, Hôpital Trousseau, AP-HP, 75012 Paris, France.
Marie-Pierre LutonSorbonne Université, Inserm UMR_S933, Département de Génétique, Hôpital Trousseau, AP-HP, 75012 Paris, France.
Christopher J ChildEli Lilly and Company, Windlesham, GU20 6PH, UK.
Christine JonesEli Lilly and Company, Werner-Reimers-Strasse 2-4, 61352 Bad Homburg, Germany.
Alan G ZimmermannEli Lilly and Company, Indianapolis, USA.
Charmian A QuigleySydney Children's Hospital, Randwick, Australia.
Gordon B CutlerGordon Cutler Consultancy LLC, Deltaville, USA.
Cheri L DealUniversity of Montreal and CHU Ste-Justine, Montreal, Canada.
Jan LeblDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University, University Hospital Motol, V Uvalu 84, 150 06 Prague, 5, Czech Republic.
Ron G RosenfeldDepartment of Pediatrics, Oregon Health and Science University, Portland, USA.
John S ParksDivision of Pediatric Endocrinology and Diabetes, Emory University School of Medicine, 2015 Uppergate Dr, Atlanta, GA 30322, USA.
Roland W PfäffleUniversity Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 20a, 04103 Leipzig, Germany.
Funding
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MWHI Sequencing Project (WHISP)UC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2010 to 2010
$2.4MWHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817kNHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010
Abstract
PubMed holds no abstract for this paper.
Indexed as
MutationAdolescentChildChild, PreschoolDNA Mutational AnalysisDwarfism, PituitaryFemaleHomeodomain ProteinsHuman Growth HormoneHumansLIM-Homeodomain ProteinsMaleNuclear ProteinsPhenotypePituitary GlandProspective StudiesGHRHR protein, humanGLI2 protein, humanHESX1 protein, humanHomeodomain ProteinsHuman Growth HormoneLhx3 proteinLHX4 protein, humanLIM-Homeodomain ProteinsNuclear ProteinsPOU1F1 protein, humanProphet of Pit-1 proteinReceptors, NeuropeptideReceptors, Pituitary Hormone-Regulating HormoneSOX3 protein, humanSOXB1 Transcription FactorsTranscription Factor Pit-1Transcription FactorsZinc Finger Protein Gli2GeneticsGrowth hormone deficiencyHypopituitarismPituitaryShort stature
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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.