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1 . Academic Journal
Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex
저자
by
Iva Salamon
;
Yongkyu Park
;
Terezija Miškić
;
Janja Kopić
;
Paul Matteson
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-22 (2023)
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7 . Academic Journal
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases
저자
by
Francesco Oliva
;
Francesco Musiani
;
Alejandro Giorgetti
;
Silvia De Rubeis
;
Oksana Sorokina
, et al.
소스
Frontiers in Chemistry, Vol 10 (2023)
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7 . Academic Journal
How rare and common risk variation jointly affect liability for autism spectrum disorder
저자
by
Lambertus Klei
;
Lora Lee McClain
;
Behrang Mahjani
;
Klea Panayidou
;
Silvia De Rubeis
, et al.
소스
Molecular Autism, Vol 12, Iss 1, Pp 1-13 (2021)
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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
Prospective and detailed behavioral phenotyping in DDX3X syndrome
저자
by
Lara Tang
;
Tess Levy
;
Sylvia Guillory
;
Danielle Halpern
;
Jessica Zweifach
, et al.
소스
Molecular Autism, Vol 12, Iss 1, Pp 1-17 (2021)
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7 . Academic Journal
Translational derepression of Elavl4 isoforms at their alternative 5′ UTRs determines neuronal development
저자
by
Tatiana Popovitchenko
;
Yongkyu Park
;
Nicholas F. Page
;
Xiaobing Luo
;
Zeljka Krsnik
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-21 (2020)
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7 . Academic Journal
Identification of rare de novo epigenetic variations in congenital disorders
저자
by
Mafalda Barbosa
;
Ricky S. Joshi
;
Paras Garg
;
Alejandro Martin-Trujillo
;
Nihir Patel
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
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7 . Academic Journal
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
저자
by
Silvia De Rubeis
;
Paige M. Siper
;
Allison Durkin
;
Jordana Weissman
;
François Muratet
, et al.
소스
Molecular Autism, Vol 9, Iss 1, Pp 1-20 (2018)
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7 . Academic Journal
Prospective investigation of FOXP1 syndrome
저자
by
Paige M. Siper
;
Silvia De Rubeis
;
Maria del Pilar Trelles
;
Allison Durkin
;
Daniele Di Marino
, et al.
소스
Molecular Autism, Vol 8, Iss 1, Pp 1-16 (2017)
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7 . Academic Journal
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
저자
by
Lisa Pavinato
;
Ehsan Nematian-Ardestani
;
Andrea Zonta
;
Silvia De Rubeis
;
Joseph Buxbaum
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 11, p 6064 (2021)
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