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Ana Krepischi

Assistant Professor

University of Sao Paulo

Brazil

Research Interests

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Professors in Biostatistics

Articles (20)

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Collaborators (7)

Mayana Zatz

Professor Dr. at University of Sao Paulo

University of Sao Paulo

GLOBAL

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Paula Favoretti Vital do Prado

GERMANY

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Florence Petit

Université de Lille

FRANCE

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Louise Bicknell

Professor

University of Otago

NEW ZEALAND

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Antonio Marcondes Lerario

University of Michigan

UNITED STATES

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Judith Verhagen

Researcher

Erasmus University Rotterdam

NETHERLANDS

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João Victor da Silva Guerra

Technological Development Specialist

Brazilian Center for Research in Energy and Materials

BRAZIL

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Ana Krepischi

Research Interests

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Articles (20)

DDX3X is a Cl--sensitive RNA helicase

Differential methylation in blood pressure control genes is associated to essential hypertension in African Brazilian populations

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker–Gordon Syndrome

<i>ACTB</i> Loss-of-Function Variant and <i>AUTS2</i> Duplication in a Patient with Syndromic Intellectual Disability

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort

Understanding rare variant contributions to autism: lessons from dystrophin-deficient model

Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literature

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly

Distinct copy number signatures between residual benign and transformed areas of carcinoma ex pleomorphic adenoma.

Análise de DNA para reconstituição histórica

Convivendo com doenças hereditárias

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

The genetic etiology is a relevant cause of central precocious puberty.

First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways.

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

MicroRNA copy number alterations in the malignant transformation of pleomorphic adenoma to carcinoma ex pleomorphic adenoma.

Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders

Collaborators (7)

Mayana Zatz

Paula Favoretti Vital do Prado

Florence Petit

Louise Bicknell

Antonio Marcondes Lerario

Judith Verhagen

João Victor da Silva Guerra

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