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List of works by Stefano Paolacci

A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis

scientific article published on 05 March 2019

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

scientific article

Etiopathogenesis of sacroiliitis: implications for assessment and management

scientific article published on 01 October 2020

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

scientific article

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment

scientific article published on 05 May 2020

Genetic tests in lymphatic vascular malformations and lymphedema

scientific article published on 9 February 2018

Genetics of lipedema: new perspectives on genetic research and molecular diagnoses

scientific article published on 01 July 2019

Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants

scientific article published on 18 June 2019

Mendelian obesity, molecular pathways and pharmacological therapies: a review

scientific article published on 01 February 2019

Molecular Aspects of Regional Pain Syndrome

scientific article published on 11 April 2020

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study

scientific article published on 13 June 2019

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

scientific article published on 27 April 2015

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

scientific article

Paraneoplastic Neurological Syndromes: Study of Prevalence in a Province of the Lombardy Region, Italy

scientific article published on 25 September 2020

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

scientific article published on 22 October 2020

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

Taste, olfactory and texture related genes and food choices: implications on health status

scientific article published on 01 February 2019

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome

scientific article published on 18 June 2020

Vascular anomalies: molecular bases, genetic testing and therapeutic approaches

scientific article published on 01 April 2019

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

scientific article published on 21 April 2018

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

scientific article published on 26 April 2017

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