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List of works by Carmencita D. Padilla

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

scientific article published on 22 March 2016

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

scientific article

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

scientific article published on 30 March 2016

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

scientific article published in February 2004

A serological framework to investigate acute primary and post-primary dengue cases reporting across the Philippines

scientific article published on 27 November 2020

A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals

scientific article published on 06 June 2019

AB014. Expanding newborn screening and the initiation of regional follow-up in the Philippines.

scientific article published in September 2015

AB061. Screening of thalassemia in the Philippines.

scientific article

AB063. Prevalence of thalassemias and hemoglobinopathies detected via high performance liquid chromatography in Filipinos.

scientific article

AB088. Prevalence of alpha thalassemia mutations in Filipino patients.

scientific article published in September 2017

AB089. Prevalence of the most common β-globin gene mutations in Filipino β-thalassemia patients.

scientific article published in September 2017

An Asia pacific alliance for rare diseases

article

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia

scientific article published on 03 May 2019

Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts

scientific article published on 24 December 2018

Beyond screening: challenges in measuring outcomes.

scientific article

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families

scientific article published on 10 November 2016

Cost-benefit analysis of newborn screening for galactosemia in the Philippines.

scientific article published in January 2003

Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.

scientific article published in June 2008

Empowering newborn screening programs in African countries through establishment of an international collaborative effort

scientific article published on 15 May 2020

G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map

scientific article

GWAS reveals loci associated with velopharyngeal dysfunction.

scientific article published on 31 May 2018

Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population

scientific article published on 02 August 2016

Genetics and genomic medicine in the Philippines.

scientific article published on 15 September 2016

Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts

scientific article published on 11 September 2018

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

scientific article published on 4 January 2017

Hyperphenylalaninemia in the Philippines.

scientific article

Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes

scientific article published on 10 November 2017

Initial versus confirmatory thyroid stimulating hormone (TSH) levels: is there a correlation?

scientific article published on 01 January 2003

Mapping human genetic diversity in Asia

scientific article

Newborn screening for congenital hypothyroidism in early discharged infants

scientific article published on 01 January 2003

Newborn screening in the Asia Pacific region

scientific article

Newborn screening in the developing countries

scientific article published on 01 December 2018

Newborn screening progress in developing countries--overcoming internal barriers

scientific article published on April 2010

Parents of Children With Nonsyndromic Orofacial Clefting Show Altered Palate Shape

scientific article published on 28 October 2020

Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement

scientific article published on 11 December 2020

Preconception Health Assessment in China, Lebanon and the Philippines: Applicability to Other Countries ⬇️

scientific article published on July 1, 2014

Prevalence of Torus Palatinus and association with dental arch shape in a multi-ethnic cohort

scientific article published on 04 November 2020

Prevention of Congenital Disorders and Care of Affected Children: A Consensus Statement

scientific article published on 27 June 2016

Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: a pilot study on Filipino male newborns

scientific article published on 01 February 2003

The March of Dimes Global Network for Maternal and Infant Health: Harnessing the power of experts in lower-income countries to improve the health of women, mothers, newborns and babies

scientific article published on 01 August 2009

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