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Research & Literature

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature Visualize citation networks across 62 referenced papers

Top Authors

Jan Maarten Wit
Leiden University Medical Center
Alexander A.L. Jorge
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
Xiaoping Luo
Tongji Hospital
Monika Bullinger
University Medical Center Hamburg-Eppendorf
Neuza Silva
University Medical Center Hamburg-Eppendorf
Sjoerd D. Joustra
Leiden University
Mario Perelló
Uppsala University
Reiko Horikawa
National Center For Child Health and Development
Monique Losekoot
Leiden University
Robert Rapaport
Icahn School of Medicine at Mount Sinai

Top Institutions

Ranked by publications Top 10 institutions
04

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

São Paulo, Brazil

19 papers
08

Tongji Hospital

Wuhan, China

14 papers

References

References (62)
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    Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician.

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    Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.

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    Effect of growth hormone treatment on children with idiopathic short stature (ISS), idiopathic growth hormone deficiency (IGHD), small for gestational age (SGA) and Turner syndrome (TS) in a tertiary care center.

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    Metabolic insights from a GHSR-A203E mutant mouse model.

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    Molecular metabolism 2020; (39()):101004 doi:10.1016/j.molmet.2020.101004.

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    Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

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    Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(12)):1976-1985 doi:10.1038/s41436-020-0912-4.

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    Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences.

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    Journal of genetic counseling 2021; (30(2)):616-629 doi:10.1002/jgc4.1353.

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    Effect of Growth Hormone Secretagogue Receptor Deletion on Growth, Pulsatile Growth Hormone Secretion, and Meal Pattern in Male and Female Mice.

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    Disrupting the ghrelin-growth hormone axis limits ghrelin's orexigenic but not glucoregulatory actions.

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    Molecular metabolism 2021; (53()):101258 doi:10.1016/j.molmet.2021.101258.

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    Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

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    Ghrelin Gene Deletion Alters Pulsatile Growth Hormone Secretion in Adult Female Mice.

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    Investigating whether serum IGF-1 and IGFBP-3 levels reflect the height outcome in prepubertal children upon rhGH therapy: LG growth study database.

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    Decreased Thyroxine Levels during rhGH Therapy in Children with Growth Hormone Deficiency.

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    A Genetic Approach in the Evaluation of Short Stature.

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    Adherence and quality of life in children receiving rhGH treatment.

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    Children With Idiopathic Short Stature: An Expanding Role for Genetic Investigation in Their Medical Evaluation.

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    The role of IGF1 in determining body composition in children and adolescents with growth hormone deficiency and those with idiopathic short stature.

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    Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

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    Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review.

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    Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative Study.

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    Insulin Like Growth Factor-1 as a Screening Tool to Differentiate Between Idiopathic Short Stature and Growth Hormone Deficiency.

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    Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

    Richardson ME, Bishop MFH, Holdren MA, et al.

    American journal of human genetics 2025; (112(10)):2266-2280 doi:10.1016/j.ajhg.2025.08.020.

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    Fathers' and Mothers' support needs and support experiences after rapid genome sequencing.

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    Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

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    Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.

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    Predictors of Response to Growth Hormone Therapy in Children with Idiopathic Growth Hormone Deficiency: A Narrative Review.

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    Nutritional Status of Children with Short Stature Is Oppositely Associated with Growth Hormone Peak in Stimulation Tests and Insulin-like Growth Factor-1 Concentration.

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    Efficacy of Low Insulin-Like Growth Factor-1 Levels and a Single Insulin Tolerance Test in Diagnosing Growth Hormone Deficiency.

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    Interpretation of genome sequencing results in children with complex neuromotor phenotypes.

    Friedman JM, Lehman A, Guimond C, et al.

    Med (New York, N.Y.) 2026; 101330 doi:10.1016/j.medj.2026.101330.

    PMID: 42880292