Marzena Wisniewska - Publications

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Journal: International journal of molecular sciences

Published: January 02, 2026

From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: July 28, 2024

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

Journal: Genes

Published: November 18, 2021

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

Journal: Journal of applied genetics

Published: January 28, 2021

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 16, 2020

DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 06, 2020

PEDIA: prioritization of exome data by image analysis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 13, 2018

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Journal: Human molecular genetics

Published: August 10, 2015

The genetic basis of DOORS syndrome: an exome-sequencing study.

Journal: The Lancet. Neurology

Published: December 03, 2013