Jeremy Schwartzentruber

发表

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Very low-depth whole-genome sequencing in complex trait association studies

Xiangyu Ge, Jeremy Schwartzentruber, Eleftheria Zeggini, 2017, bioRxiv.

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

Gautier Koscielny, Simon Jupp, Zoe May Pendlington, 2020, Nucleic Acids Res..

What can exome sequencing do for you?

Nada Jabado, Emilie Lalonde, Jacek Majewski, 2011, Journal of Medical Genetics.

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Jie Huang, Inês Barroso, Tom R. Gaunt, 2017, American journal of human genetics.

Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR

Nada Jabado, Maxime Caron, Jacek Majewski, 2013, Nature Genetics.

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

Andrey Korshunov, Nada Jabado, David T. W. Jones, 2012, Acta Neuropathologica.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Roland Eils, Thomas Zichner, Hans Lehrach, 2013, Nature Genetics.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Jeremy Schwartzentruber, Eleftheria Zeggini, Ioanna Tachmazidou, 2017, Nature Communications.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Jay Shendure, Michael J Bamshad, Deborah A Nickerson, 2012, American journal of human genetics.

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Liliana Goumnerova, Nada Jabado, David T. W. Jones, 2014, Nature Genetics.