Jorge M. Saraiva - Publications

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal.

Journal: Clinics (Sao Paulo, Brazil)

Published: July 15, 2025

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine

Published: May 20, 2025

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.

Journal: Frontiers in genetics

Published: August 08, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2024

Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 15, 2024

Genetic tests in the assessment of patients and at-risk relatives: The example of hypertrophic cardiomyopathy.

Journal: Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology

Published: February 19, 2017

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Journal: European journal of medical genetics

Published: May 17, 2015

Eating behaviors, body image, perfectionism, and self-esteem in a sample of Portuguese girls.

Journal: Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999)

Published: April 02, 2015

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

Journal: American journal of human genetics

Published: January 29, 2015

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

Journal: American journal of human genetics

Published: August 21, 2014

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

Journal: Journal of medical genetics

Published: August 14, 2014

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.

Journal: American journal of medical genetics. Part A

Published: February 07, 2014