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1 . Academic Journal
GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM
저자
by
K. M. Tahsin Hassan Rahit
;
Vladimir Avramovic
;
Jessica X. Chong
;
Maja Tarailo-Graovac
.
소스
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-21 (2024)
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6 . Academic Journal
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach
저자
by
Tatiana Maroilley
;
Meng‐Han Tsai
;
Rumika Mascarenhas
;
Catherine Diao
;
Maryam Khanbabaei
, et al.
소스
Epilepsia Open, Vol 8, Iss 2, Pp 659-665 (2023)
Open Access (Wiley)
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7 . Academic Journal
Rare disorders have many faces: in silico characterization of rare disorder spectrum
저자
by
Simona D. Frederiksen
;
Vladimir Avramović
;
Tatiana Maroilley
;
Anna Lehman
;
Laura Arbour
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
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7 . Academic Journal
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease
저자
by
Vladimir Avramović
;
Simona Denise Frederiksen
;
Marjana Brkić
;
Maja Tarailo-Graovac
.
소스
Human Genomics, Vol 15, Iss 1, Pp 1-13 (2021)
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6 . Academic Journal
Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans
저자
by
Francesca Jean
;
Susan Stasiuk
;
Tatiana Maroilley
;
Catherine Diao
;
Andrew Galbraith
, et al.
소스
BMC Genomics, Vol 22, Iss 1, Pp 1-15 (2021)
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7 . Academic Journal
Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing
저자
by
Tatiana Maroilley
;
Xiao Li
;
Matthew Oldach
;
Francesca Jean
;
Susan J. Stasiuk
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
저자
by
Alison M. Elliott
;
Shelin Adam
;
Christèle du Souich
;
Anna Lehman
;
Tanya N. Nelson
, et al.
소스
HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)
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7 . Academic Journal
The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases
저자
by
Li Shu
;
Tatiana Maroilley
;
Maja Tarailo-Graovac
.
소스
Genes, Vol 14, Iss 1, p 196 (2023)
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5 . Academic Journal
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia
저자
by
Tatiana Maroilley
;
Nicola A. M. Wright
;
Catherine Diao
;
Linda MacLaren
;
Gerald Pfeffer
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Dissecting the Genetic and Etiological Causes of Primary Microcephaly
저자
by
Francesca Jean
;
Amanda Stuart
;
Maja Tarailo-Graovac
.
소스
Frontiers in Neurology, Vol 11 (2020)
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