Publications in collaboration with researchers from Columbia University Medical Center (16)

2024

  1. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

    Genome Medicine, Vol. 16, Núm. 1

2022

  1. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Global mortality from dementia: Application of a newmethod and results from the global burden of disease study 2019

    Alzheimer's and Dementia: Translational Research and Clinical Interventions, Vol. 7, Núm. 1

2018

  1. The XMAP215 Ortholog Alp14 Promotes Microtubule Nucleation in Fission Yeast

    Current Biology, Vol. 28, Núm. 11, pp. 1681-1691.e4

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  3. The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency

    Human Molecular Genetics, Vol. 25, Núm. 19, pp. 4256-4265

2013

  1. Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: A modelling study for human coenzyme Q10 deficiencies

    BMJ Open, Vol. 3, Núm. 3

2012

  1. GLI3 Constrains Digit Number by Controlling Both Progenitor Proliferation and BMP-Dependent Exit to Chondrogenesis

    Developmental Cell, Vol. 22, Núm. 4, pp. 837-848

  2. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544

  3. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191

2011

  1. Coenzyme Q deficiency in muscle

    Current Opinion in Neurology, Vol. 24, Núm. 5, pp. 449-456

2010

  1. Dual RMCE for efficient re-engineering of mouse mutant alleles

    Nature Methods, Vol. 7, Núm. 11, pp. 893-895

2008

  1. Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

    FASEB Journal, Vol. 22, Núm. 6, pp. 1874-1885

2006

  1. Genetics of primary CoQ10 deficiency

    Current Genomics, Vol. 7, Núm. 6, pp. 343-349