Paola Grammatico

Rome, Italy

Last Updated: 09/26/2026

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Found 145 publications

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

Journal: Research square

Published: May 25, 2026

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

Journal: Research square

Published: May 25, 2026

Correction: Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing.

Correction: Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing.

Journal: European journal of human genetics : EJHG

Published: May 13, 2026

Impact of a detailed ultrasound in pregnancies with high-risk cell-free DNA for common autosomal aneuploidies: a systematic review and meta-analysis.

Impact of a detailed ultrasound in pregnancies with high-risk cell-free DNA for common autosomal aneuploidies: a systematic review and meta-analysis.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: April 08, 2026

Multidisciplinary characterization of rare MPL Y591 and R592 variants in myeloid disorders: from clinical correlation and literature-based evidence to in silico predictors and structural bioinformatics.

Multidisciplinary characterization of rare MPL Y591 and R592 variants in myeloid disorders: from clinical correlation and literature-based evidence to in silico predictors and structural bioinformatics.

Journal: Experimental hematology

Published: March 24, 2026

Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing.

Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing.

Journal: European journal of human genetics : EJHG

Published: December 04, 2025

Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing.

Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing.

Journal: European journal of human genetics : EJHG

Published: December 04, 2025

Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms.

Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms.

Journal: Experimental hematology

Published: October 07, 2025

A novel complex mutation affecting two codons in the exon 10 hotspot region of the MPL gene.

A novel complex mutation affecting two codons in the exon 10 hotspot region of the MPL gene.

Journal: Current research in translational medicine

Published: September 18, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Journal: Clinical genetics

Published: May 26, 2025

ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'.

ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'.

Journal: European heart journal supplements : journal of the European Society of Cardiology

Published: May 19, 2025

Showing 1-12 of 145

Last Updated: 09/26/2026