Associated Papers
Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis.
Brunello FG et al.
Human Molecular Genetics, 2026
Resource: A compendium of HLA types and expression in pediatric cancer models.
Guan Y et al.
Iscience, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A et al.
Archives of Medical Science : Ams, 2022
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism.
Dai W et al.
International Journal of Endocrinology, 2021
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Budny B et al.
Frontiers in Endocrinology, 2020
Proteogenomic systems analysis identifies targeted therapy resistance mechanisms in EGFR-mutated lung cancer.
Treue D et al.
International Journal of Cancer, 2019
Next-generation sequencing of patients with congenital anosmia.
Alkelai A et al.
European Journal of Human Genetics : Ejhg, 2017
Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
Marcos S et al.
Human Molecular Genetics, 2017
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Jiang Q et al.
American Journal of Human Genetics, 2015
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.
Boczek NJ et al.
Circulation Research, 2014
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Känsäkoski J et al.
Pediatric Research, 2014
Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.
Luzón-Toro B et al.
Plos One, 2013
Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.
Kang G et al.
Plos One, 2013
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
Hanchate NK et al.
Plos Genetics, 2012
Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.
Jiang Q et al.
Human Mutation, 2012