Associated Papers
Gene-environment interaction in functional hypothalamic amenorrhea.
Barbagallo F et al.
Frontiers in Endocrinology, 2024
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM8_ESM.xlsx › Tabelle1
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.
Alba-Pavón P et al.
Scientific Reports, 2023
36805510 (PubMed )
Supplement: 41598_2023_29982_MOESM1_ESM.pdf
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
Delaney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
33303739 (PubMed )
Supplement: 41525_2020_161_MOESM2_ESM.xlsx › Table_S2_03Jun20_SNG
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Xu C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
28993730 (PubMed )
Supplement: Table3.xlsx › Germline
An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.
Verhagen JM et al.
European Journal of Medical Genetics, 2014
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Bergman JE et al.
Human Mutation, 2012
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
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