PMC35 USE OF CLASSIFICATION TREES AS AN AID IN UNDERSTANDING MISSING DATA: AN EXAMPLE FROM AN INTERNET-BASED SURVEY OF PATIENT CHARACTERISTICS AND RESOURCE UTILIZATION

Autor: Zagar, AJ, Khan, SA, Hayes, CP

Publikováno v: In Value in Health 2009 12(3):A26-A26

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Autor: Ćuk M; Department of Pediatrics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.; School of Medicine, University of Zagreb, 10000 Zagreb, Croatia., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Lovrenčić L; Department of Pediatrics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Abraamyan F; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Prutki M; School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.; Department of Radiology, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Krakar G; Pediatric Clinic Sabol, 10000 Zagreb, Croatia., Srkoč-Majčica L; Zabok General Hospital and Croatian Veterans Hospital, 49210 Bračak, Croatia., Ghazani AA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA.

Publikováno v: Genes [Genes (Basel)] 2024 Oct 06; Vol. 15 (10). Date of Electronic Publication: 2024 Oct 06.

Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.

Autor: Ćuk M; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA., Bevanda A; Zagreb County Health Center, Croatia., Antolović V; Bistra Children's Hospital for Chronic Diseases, Gornja Bistra, Croatia., Ghazani AA; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: aghazani@bwh.harvard.edu.

Publikováno v: Cancer genetics [Cancer Genet] 2024 Aug; Vol. 286-287, pp. 43-47. Date of Electronic Publication: 2024 Jul 25.

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.

Autor: Ćuk M; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia., Lovrenčić L; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA., Krakar G; Department of Child Neurology, Pediatric Clinic Sabol, Zagreb, Croatia., Beluzić R; Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia., Sansović I; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Pavliša G; Department for Diagnostic and Interventional Neuroradiology, University Hospital Centre Zagreb, and University of Zagreb, School of Medicine, Zagreb, Croatia., Ghazani AA; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.

Publikováno v: The American journal of case reports [Am J Case Rep] 2024 Jul 12; Vol. 25, pp. e943641. Date of Electronic Publication: 2024 Jul 12.

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Autor: Rana HQ; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Harvard Medical School, Boston, MA 02115, USA., Koeller DR; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Levine AS; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Chittenden A; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Isidro RA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Manam MD; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Buehler RM; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Manning DK; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Barletta JA; Harvard Medical School, Boston, MA 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Hornick JL; Harvard Medical School, Boston, MA 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Garber JE; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Harvard Medical School, Boston, MA 02115, USA., Ghazani AA; Harvard Medical School, Boston, MA 02115, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., Int2grate Oncology Consortium

Publikováno v: Cancers [Cancers (Basel)] 2024 Feb 26; Vol. 16 (5). Date of Electronic Publication: 2024 Feb 26.