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Blood|December 6, 2024
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutationsNatalia Borbaran Bravo, Ekaterina Deordieva, Larissa Doll, et al.BMC Cancer|June 27, 2022
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriersJulika Borde, Yael Laitman, Britta Blümcke, et al.Orphanet Journal of Rare Diseases|March 19, 2013
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrumMatthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, et al.Current Biology : CB|March 26, 2013
A revised timescale for human evolution based on ancient mitochondrial genomesQiaomei Fu, Alissa Mittnik, Philip L F Johnson, et al.American Journal of Medical Genetics. Part A|November 9, 2020
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literatureMimi Tin-Yan Seto, Aida M Bertoli-Avella, Ka Wang Cheung, et al.European Journal of Cancer (Oxford, England : 1990)|December 10, 2022
Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approachesCristiana Roggia, Sorin Armeanu-Ebinger, Axel Gschwind, et al.Breast Care (Basel, Switzerland)|June 15, 2022
Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian CancerKerstin Rhiem, Bernd Auber, Susanne Briest, et al.Frontiers in Immunology|December 6, 2019
A Non-interventional Clinical Trial Assessing Immune Responses After Radiofrequency Ablation of Liver Metastases From Colorectal CancerMarkus W Löffler, Bianca Nussbaum, Günter Jäger, et al.Annals of Neurology|February 10, 2016
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patientsRebecca Schüle, Sarah Wiethoff, Peter Martus, et al.Journal of Clinical Medicine|October 26, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 ParticipantsSabine Rösner, Luba M Pardo, Aida M Bertoli-Avella, et al.Pageof 67