List of works - Carlos R Ferreira

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia

scientific article published on 05 October 2018

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.

scientific article published on 12 April 2017

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

scientific article published in 2022

Corrigendum to "The human phenotype of ornithine decarboxylase superactivity: a new syndrome"

scientific article published on 15 February 2019

Cover Image, Volume 173A, Number 12, December 2017.

scientific article published in December 2017

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

scientific article published on 07 November 2020

Defective ciliogenesis in INPP5E-related Joubert syndrome.

scientific article published on 20 October 2017

Defining the clinical phenotype of Saul-Wilson syndrome

scientific article published on 17 January 2020

Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula

scientific article published on 21 June 2019

Growth in individuals with Saul-Wilson syndrome

scientific article published on 11 July 2020

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

scientific article

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2

scientific article published on 17 August 2020

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

scientific article published on 02 October 2020

Skeletal dysplasias in Latin America

scientific article published on 21 November 2020

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

scientific article published on 18 May 2020

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

scientific article published on 04 April 2019

The burden of rare diseases

scientific article published on 18 March 2019

The human phenotype of ornithine decarboxylase superactivity: A new syndrome

scientific article published on 20 December 2018

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

List of works by Carlos R Ferreira