Marcelo Martí

发表

Intellectual disability, the long way from genes to biological mechanisms

Juan I. Young, Marcelo Martí, M. Millán, 2020 .

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

Marcelo Martí, J. Bustamante, D. Bogunovic, 2020, Allergy, Asthma & Clinical Immunology.

Type 1 Insulin-Like Growth Factor Receptor Nuclear Localization in High-Grade Glioma Cells Enhances Motility, Metabolism, and In Vivo Tumorigenesis

I. Bergadá, Marcelo Martí, A. Berenstein, 2022, Frontiers in Endocrinology.

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

M. Hernandez, J. Casanova, M. Temsah, 2020, Cell reports.

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Marcelo Martí, Germán Biagioli, Y. Mocarbel, 2019, Movement disorders clinical practice.

Whole Genome Sequencing Reveals a De Novo SHANK 3 Mutation in Familial Autism Spectrum Disorder

A. Turjanski, Marcelo Martí, S. Revale, 2015 .

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency

J. Dipierri, J. Casanova, Marcelo Martí, 2022, Journal of Clinical Immunology.

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

R. Rey, I. Bergadá, Marcelo Martí, 2022, Frontiers in Pediatrics.

Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

J. Kitzman, S. Camper, I. Bergadá, 2021, The Journal of clinical endocrinology and metabolism.

Assessing the hidden diversity underlying consensus sequences of SARS-CoV-2 using VICOS, a novel bioinformatic pipeline for identification of mixed viral populations.

P. Vera, A. Turjanski, H. Dopazo, 2022, Virus Research.

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

Juan P. Bustamante, J. Kitzman, S. Camper, 2018, Molecular genetics & genomic medicine.

Germline hypomorphic CARD11 mutations in severe atopic disease

J. McElwee, Yuan Zhang, E. Meffre, 2017, Nature Genetics.

An optimized methodology for whole genome sequencing of RNA respiratory viruses from nasopharyngeal aspirates

Marcelo Martí, A. Greninger, A. Mistchenko, 2018, PloS one.

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

S. Kochen, Marcelo Martí, D. Consalvo, 2017, PloS one.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing

A. Turjanski, S. Iqbal, Marcelo Martí, 2021, Ophthalmic genetics.

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Adali Pecci, Santiago Revale, Martin Vazquez, 2015, PloS one.

Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.

Marcelo Martí, M. P. Pérez Millán, Guadalupe Buda, 2020, Parkinsonism & related disorders.

A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.

Carlos P. Modenutti, N. Calcaterra, Marcelo Martí, 2021, The Journal of clinical endocrinology and metabolism.

An integrative, multi-omics approach towards the prioritization of Klebsiella pneumoniae drug targets

Ezequiel J. Sosa, Agustín M. Pardo, M. Sagot, 2018, Scientific Reports.

Five-year microevolution of a multidrug-resistant Mycobacterium tuberculosis strain within a patient with inadequate compliance to treatment

Agustín M. Pardo, A. Turjanski, Marcelo Martí, 2021, BMC Infectious Diseases.