Lista de obras - Max Schubach - Dominio Público Uruguay

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

artículo científico publicado en 2016

Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

artículo científico publicado en 2020

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

artículo científico publicado en 2021

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

artículo científico publicado en 2018

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

artículo científico publicado en 2019

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

artículo científico publicado en 2017

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report

artículo científico publicado en 2018

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

artículo científico publicado en 2019

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

artículo científico publicado en 2015

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

artículo científico publicado en 2018

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

artículo científico publicado en 2017

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

scientific article published on 08 August 2019

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

artículo científico publicado en 2016

The impact of different negative training data on regulatory sequence predictions

artículo científico publicado en 2020

lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

artículo científico publicado en 2020

Lista de obras de Max Schubach

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

PEDIA: prioritization of exome data by image analysis

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

The impact of different negative training data on regulatory sequence predictions

lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements