Jennifer Castaneda

17a Kasprzaka St
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 14 publications

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Journal: Orphanet journal of rare diseases
Published: January 04, 2024

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

Journal: Genes
Published: March 19, 2022

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Journal: Genes
Published: November 18, 2021

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.

Journal: Genes
Published: November 08, 2021

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Journal: Genes
Published: May 26, 2021

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Journal: Journal of applied genetics
Published: January 28, 2021

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.

Journal: Journal of medical genetics
Published: June 10, 2018

The genetics of obesity - pathogenetic, clinical and diagnostic aspects

The genetics of obesity - pathogenetic, clinical and diagnostic aspects

Journal: Developmental period medicine
Published: October 28, 2017

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.

Journal: Developmental period medicine
Published: August 11, 2017

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Journal: Human molecular genetics
Published: July 01, 2017

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Journal: European journal of human genetics : EJHG
Published: April 10, 2017

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

Journal: Advances in experimental medicine and biology
Published: March 19, 2016
Showing 1-12 of 14

Last Updated: 09/26/2026