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1 . Academic Journal
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
저자
by
Henry, Olivia J.
;
Stödberg, Tommy
;
Båtelson, Sofia
;
Rasi, Chiara
;
Stranneheim, Henrik
, et al.
소스
Molecular Genetics & Genomic Medicine
. Jul2023, Vol. 11 Issue 7, p1-11. 11p.
Open Access (Wiley)
Web of Science
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7 . Academic Journal
Identification and Interpretation of Clinically Relevant Somatic Variants from Whole-Genome Sequencing Data
저자
by
Maqbool, Khurram
;
Hassan Foroughi-Asl, Hassan
;
Ashwini Jeggari, Ashwini
;
Ivanchuk, Vadym
;
Eisfeldt, Jesper
, et al.
소스
In
Blood
15 November 2022 140 Supplement 1:13003-13004
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7 . Academic Journal
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
저자
by
Rasi, Chiara
;
Nilsson, Daniel
;
Magnusson, Måns
;
Lesko, Nicole
;
Lagerstedt‐Robinson, Kristina
, et al.
소스
Human Mutation; Jun2022, Vol. 43 Issue 6, p708-716, 9p
Web of Science
Scopus
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7 . Periodical
PRR14Lmutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia
저자
by
Chase, Andrew
;
Pellagatti, Andrea
;
Singh, Shalini
;
Score, Joannah
;
Tapper, William J.
, et al.
소스
Leukemia; May 2019, Vol. 33 Issue: 5 p1184-1194, 11p
Web of Science
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7 . Periodical
Mosaic loss of chromosome Y in leukocytes matters
저자
by
Forsberg, Lars A.
;
Halvardson, Jonatan
;
Rychlicka-Buniowska, Edyta
;
Danielsson, Marcus
;
Moghadam, Behrooz Torabi
, et al.
소스
Nature Genetics; January 2019, Vol. 51 Issue: 1 p4-7, 4p
Web of Science
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7 . Academic Journal
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
저자
by
Stranneheim, Henrik
;
Lagerstedt-Robinson, Kristina
;
Magnusson, Måns
;
Kvarnung, Malin
;
Nilsson, Daniel
, et al.
소스
Genome Medicine
. 13(1)
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
저자
by
Dumanski, Jan P.
;
Rasi, Chiara
;
Björklund, Peyman
;
Davies, Hanna
;
Ali, Abir S.
, et al.
소스
Endocrine-Related Cancer
. 2017, Vol. 24 Issue 8, p427-443. 17p.
Web of Science
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7 . Academic Journal
PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia
저자
by
Chase, Andrew
;
Pellagatti, Andrea
;
Singh, Shalini
;
Score, Joannah
;
Tapper, William J.
, et al.
소스
Leukemia
. 33(5):1184-1194
Web of Science
Scopus
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7 . Academic Journal
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.
저자
by
Dumanski, Jan P.
;
Lambert, Jean-Charles
;
Rasi, Chiara
;
Giedraitis, Vilmantas
;
Davies, Hanna
, et al.
소스
American Journal of Human Genetics
. Jun2016, Vol. 98 Issue 6, p1208-1219. 12p.
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7 . Academic Journal
MUTAGENESIS: Smoking is associated with mosaic loss of chromosome Y
저자
by
Dumanski, Jan P.
;
Rasi, Chiara
;
Lönn, Mikael
;
Davies, Hanna
;
Ingelsson, Martin
, et al.
소스
Science
. Jan 02, 2015 347(6217):81-83
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