Cecilia X. Mellado

Santiago, RM, Chile

Last Updated: 09/26/2026

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Found 19 publications

51st annual meeting of ICBDSR: data that counts - transforming lives through birth defects surveillance.

51st annual meeting of ICBDSR: data that counts - transforming lives through birth defects surveillance.

Journal: Journal of community genetics

Published: March 17, 2026

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

Journal: Human genetics

Published: November 03, 2025

Action against birth defects: if not now, when?

Action against birth defects: if not now, when?

Journal: Global health action

Published: May 31, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Journal: Transplant immunology

Published: October 27, 2023

Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile.

Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile.

Journal: Birth defects research

Published: October 26, 2021

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010-2017.

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010-2017.

Journal: BMJ paediatrics open

Published: July 21, 2021

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Journal: Human mutation

Published: June 24, 2021

Skeletal dysplasias in Latin America.

Skeletal dysplasias in Latin America.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: September 13, 2020

Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

Journal: International journal of molecular sciences

Published: July 03, 2019

Phenotypic spectrum of neonatal CHARGE syndrome.

Phenotypic spectrum of neonatal CHARGE syndrome.

Journal: Revista chilena de pediatria

Published: February 04, 2019

Pseudohypoparathyroidism: report of two cases of late presentation

Pseudohypoparathyroidism: report of two cases of late presentation

Journal: Revista medica de Chile

Published: August 20, 2017

Showing 1-12 of 19

Last Updated: 09/26/2026