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1 . Academic Journal
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
저자
by
Ricardo Harripaul
;
Elisabetta Morini
;
Monica Salani
;
Emily Logan
;
Emily Kirchner
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
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7 . Academic Journal
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
저자
by
Morad Ansari
;
Kamli N.W. Faour
;
Akiko Shimamura
;
Graeme Grimes
;
Emeline M. Kao
, et al.
소스
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
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7 . Academic Journal
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
저자
by
Ricardo Harripaul
;
Elisabetta Morini
;
Monica Salani
;
Emily Logan
;
Emily Kirchner
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
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7 . Academic Journal
Chromatin alternates between A and B compartments at kilobase scale for subgenic organization
저자
by
Hannah L. Harris
;
Huiya Gu
;
Moshe Olshansky
;
Ailun Wang
;
Irene Farabella
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
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7 . Academic Journal
Topologically associating domain boundaries are required for normal genome function
저자
by
Sudha Rajderkar
;
Iros Barozzi
;
Yiwen Zhu
;
Rong Hu
;
Yanxiao Zhang
, et al.
소스
Communications Biology, Vol 6, Iss 1, Pp 1-10 (2023)
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7 . Academic Journal
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder
저자
by
Elaine T. Lim
;
Yingleong Chan
;
Pepper Dawes
;
Xiaoge Guo
;
Serkan Erdin
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
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7 . Academic Journal
Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants
저자
by
Jiadong Lin
;
Xiaofei Yang
;
Walter Kosters
;
Tun Xu
;
Yanyan Jia
, et al.
소스
Genomics, Proteomics & Bioinformatics, Vol 20, Iss 1, Pp 205-218 (2022)
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7 . Academic Journal
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
저자
by
Behrang Mahjani
;
Silvia De Rubeis
;
Christina Gustavsson Mahjani
;
Maureen Mulhern
;
Xinyi Xu
, et al.
소스
Molecular Autism, Vol 12, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders
저자
by
Dadi Gao
;
Elisabetta Morini
;
Monica Salani
;
Aram J. Krauson
;
Anil Chekuri
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
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7 . Academic Journal
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro
저자
by
Maria Sundberg
;
Hannah Pinson
;
Richard S. Smith
;
Kellen D. Winden
;
Pooja Venugopal
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
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