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1 . Academic Journal
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
저자
by
Fehlings, Darcy L.
;
Zarrei, Mehdi
;
Engchuan, Worrawat
;
Sondheimer, Neal
;
Thiruvahindrapuram, Bhooma
, et al.
소스
Nature Genetics
. 56(4):585-594
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7 . Academic Journal
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency
저자
by
Yehonatan Pasternak, MD
;
Linda Vong, PhD
;
Daniele Merico, PhD
;
Laura Abrego Fuentes, MD
;
Ori Scott, MD
, et al.
소스
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100267- (2024)
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7 . Academic Journal
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency
저자
by
Pasternak, Yehonatan
;
Vong, Linda
;
Merico, Daniele
;
Abrego Fuentes, Laura
;
Scott, Ori
, et al.
소스
In
Journal of Allergy and Clinical Immunology: Global
August 2024 3(3)
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7 . Academic Journal
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction
저자
by
Emma Bohn
;
Tammy T. Y. Lau
;
Omar Wagih
;
Tehmina Masud
;
Daniele Merico
.
소스
Frontiers in Molecular Biosciences, Vol 10 (2023)
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7 . Academic Journal
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions
저자
by
Marshall, Christian R.
;
Merico, Daniele
;
Thiruvahindrapuram, Bhooma
;
Wang, Zhouzhi
;
Scherer, Stephen W.
, et al.
소스
In
Cell Genomics
9 August 2023 3(8)
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7 . Academic Journal
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
저자
by
Ada J. S. Chan
;
Worrawat Engchuan
;
Miriam S. Reuter
;
Zhuozhi Wang
;
Bhooma Thiruvahindrapuram
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
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7 . Academic Journal
Predicting causal genes from psychiatric genome-wide association studies using high-level etiological knowledge
저자
by
Wainberg, Michael
;
Merico, Daniele
;
Keller, Matthew C.
;
Fauman, Eric B.
;
Tripathy, Shreejoy J.
.
소스
Molecular Psychiatry
. 27(7):3095-3106
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7 . Academic Journal
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
저자
by
Chan, Ada J. S.
;
Engchuan, Worrawat
;
Reuter, Miriam S.
;
Wang, Zhuozhi
;
Thiruvahindrapuram, Bhooma
, et al.
소스
Nature Communications
. 13(1)
Scopus
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7 . Academic Journal
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
저자
by
Daniele Merico
;
Yehonatan Pasternak
;
Mehdi Zarrei
;
Edward J. Higginbotham
;
Bhooma Thiruvahindrapuram
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
Archaeometallurgical Characterization of Two Lombard Early Medieval Bloomery Slags from Ponte di Val Gabbia I Site (Northern Italy)
저자
by
Paolomarco Merico
;
Michela Faccoli
;
Daniele La Corte
;
Giovanna Cornacchia
.
소스
Metals, Vol 13, Iss 5, p 984 (2023)
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