M. Badura-Stronka

发表

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

A. Latos-Bieleńska, T. Żemojtel, B. Steinborn, 2021, Genes.

A novel nonsense mutation in CUL4B gene in three brothers with X‐linked mental retardation syndrome

A. Latos-Bieleńska, K. Kiryluk, A. Sowińska, 2010, Clinical genetics.

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

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene

A. Latos-Bieleńska, R. Płoski, T. Żemojtel, 2018, Clinical dysmorphology.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

A. Latos-Bieleńska, M. Badura-Stronka, A. Jamsheer, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

D. Hoffman-Zacharska, B. Steinborn, M. Badura-Stronka, 2020, Epilepsy & Behavior.

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.

A. Wawrocka, M. Krawczyński, M. Badura-Stronka, 2013, Mitochondrion.

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

I. Wojsyk-Banaszak, P. Sobkowiak, B. Steinborn, 2022, International journal of environmental research and public health.

Mowat-Wilson syndrome: growth charts

J. Clayton-Smith, S. Bernasconi, R. Møller, 2020, Orphanet Journal of Rare Diseases.

Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.

M. Badura-Stronka, A. Szczawinska-Poplonyk, Eyal Schwartzmann, 2022, Allergologia et immunopathologia.

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

M. Badura-Stronka, Katarzyna Wołyńska, A. Pietrzak, 2020, Archives of medical science : AMS.

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

E. Obersztyn, E. Jamroz, W. Wiszniewski, 2021, Genes.

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

Aleksander Jamsheer, A. Latos-Bieleńska, J. Limon, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Epidemiologic characteristics of amniotic band sequence with limb malformations without body wall defect: data from the Polish Registry of Congenital Malformations

A. Latos-Bieleńska, K. Kiryluk, J. Limon, 2008 .

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

A. Latos-Bieleńska, M. Nowicki, D. Monies, 2016, BMC Neurology.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

High Positive Predictive Value (PPV) of Cell-Free DNA (cfDNA) Testing in a Clinical Study of 10,000 Consecutive Pregnancies

Čulić, R. Rijnders, M. Badura-Stronka, 2016 .

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

A. Materna-Kiryluk, M. Badura-Stronka, G. Koczyk, 2020, Frontiers in Genetics.

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

A. Latos-Bieleńska, A. Woźniak, M. Krawczyński, 2010, BMC pediatrics.

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

A. Latos-Bieleńska, W. Kozubski, T. Kangas-Kontio, 2019, Folia neuropathologica.

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

A. Latos-Bieleńska, K. Kiryluk, A. Sowińska, 2010, Clinical genetics.

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

W. Kozubski, B. Steinborn, M. Badura-Stronka, 2021, Clinical genetics.

Parental age as a risk factor for isolated congenital malformations in a Polish population.

Elzbieta Gajewska, A. Latos-Bieleńska, J. Limon, 2009, Paediatric and perinatal epidemiology.

FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

A. Latos-Bieleńska, R. Płoski, M. Rydzanicz, 2022, Molecular genetics & genomic medicine.

Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients

B. Steinborn, M. Badura-Stronka, A. Winczewska-Wiktor, 2022, Journal of clinical medicine.

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

I. Scheffer, M. Shaw, J. Gécz, 2020, European journal of medical genetics.

Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome

A. Latos-Bieleńska, H. Ropers, A. Tzschach, 2010, Clinical genetics.

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

A. Latos-Bieleńska, E. Obersztyn, J. Pilch, 2021, Journal of Applied Genetics.

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

J. Walkowiak, S. Biskup, M. Badura-Stronka, 2023, Frontiers in Genetics.

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

H. Stewart, J. Morton, S. Lynch, 2023, European Journal of Human Genetics.

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

P. Beighton, A. Latos-Bieleńska, Katarzyna Wicher, 2015, Birth defects research. Clinical and molecular teratology.

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

M. Badura-Stronka, Katarzyna Wołyńska, A. Winczewska-Wiktor, 2024, Frontiers in neurology.