Magdalena Socha

发表

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

S. Mundlos, P. Krawitz, J. Hecht, 2013, Journal of Medical Genetics.

Position effects at the FGF8 locus are associated with femoral hypoplasia.

S. Mundlos, M. Spielmann, M. Vingron, 2021, American journal of human genetics.

Split-hand/foot malformation - molecular cause and implications in genetic counseling

A. Jamsheer, A. Sowińska-Seidler, Magdalena Socha, 2013, Journal of Applied Genetics.

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

A. Latos-Bieleńska, A. Materna-Kiryluk, A. Pyrkosz, 2016, Journal of Human Genetics.

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes

M. Jędrzejowska, K. Iwanicka-Pronicka, M. Krajewska-Walasek, 2016, SpringerPlus.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

A. Latos-Bieleńska, T. Trzeciak, A. Jamsheer, 2014, Journal of Applied Genetics.

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

Dawid Larysz, Ewelina Bukowska-Olech, Delfina Popiel, 2020, Scientific Reports.

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia

A. Wawrocka, M. Krawczyński, B. Budny, 2021, American journal of medical genetics. Part A.

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

A. Latos-Bieleńska, P. Tylzanowski, A. Kruczek, 2019, Clinical genetics.

Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression

J. Rybakowski, P. Celichowski, M. Sassek, 2021, International journal of molecular sciences.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

D. Larysz, A. Jamsheer, A. Sowińska-Seidler, 2018, Journal of Applied Genetics.

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

Anna Skorczyk-Werner, A. Wawrocka, M. Krawczyński, 2018 .

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

A. Latos-Bieleńska, A. Wawrocka, D. Drożdż, 2018, Birth defects research.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

D. Larysz, A. Jamsheer, A. Sowińska-Seidler, 2018, Journal of Applied Genetics.

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation

A. Jamsheer, J. Kornacki, A. Sowińska-Seidler, 2017, Congenital anomalies.

Split-hand/foot malformation - molecular cause and implications in genetic counseling

A. Jamsheer, A. Sowińska-Seidler, Magdalena Socha, 2013, Journal of Applied Genetics.

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

A. Latos-Bieleńska, Monika Piwecka, A. Jamsheer, 2014, Journal of Applied Genetics.

A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome

A. Jamsheer, Magdalena Socha, D. Simon, 2022, Journal of Applied Genetics.

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

Anna Skorczyk-Werner, A. Wawrocka, M. Krawczyński, 2023, Diagnostics.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

A. Latos-Bieleńska, A. Jezela-Stanek, A. Materna-Kiryluk, 2016, Ginekologia polska.

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

A. Latos-Bieleńska, C. Kiraly-Borri, A. Stembalska, 2014, Gene.

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

D. Larysz, G. Koczyk, A. Jamsheer, 2020, Scientific Reports.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

A. Gach, L. Jakubowski, A. Sakowicz, 2020, Archives of medical science : AMS.

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

A. Latos-Bieleńska, T. Trzeciak, A. Jamsheer, 2014, Journal of Applied Genetics.

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

A. Latos-Bieleńska, Monika Piwecka, A. Jamsheer, 2014, Journal of Applied Genetics.

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

P. Robinson, S. Mundlos, T. Żemojtel, 2014, Birth defects research. Part A, Clinical and molecular teratology.