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The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

BMC cancer, 2017-04, Vol.17 (1), p.239-11, Article 239

2017

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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Pediatric nephrology (Berlin, West), 2015-06, Vol.30 (6), p.931-943

2015

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Clinical heterogeneity of polish patients with KAT6B–related disorder

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2265-n/a

2023

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A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.373-377

2010

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Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients

Acta neuropathologica, 2010-03, Vol.119 (3), p.325-334

2010

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Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.241-248

2010

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The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1263-n/a

2020

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Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1647-1650

2016

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Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.462-473

2016

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Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

Clinical dysmorphology, 2019-07, Vol.28 (3), p.126-128

2019

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Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests

Gene, 2012-09, Vol.506 (1), p.161-165

2012

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

Journal of medical genetics, 2015-05, Vol.52 (5), p.312-316

2015

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Four novel RSK2 mutations in females with Coffin–Lowry syndrome

European journal of medical genetics, 2010-09, Vol.53 (5), p.268-273

2010

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Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis

The journal of clinical endocrinology and metabolism, 2017-09, Vol.102 (9), p.3517-3525

2017

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The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

Mitochondrion, 2013-11, Vol.13 (6), p.810-816

2013

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Biological psychiatry (1969), 2019-02, Vol.85 (4), p.287-297

2019

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Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Human genetics, 2011-05, Vol.129 (5), p.513-519

2011

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X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

Clinical dysmorphology, 2009-07, Vol.18 (3), p.168-171

2009

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor [alpha] gene (THRA)

Journal of medical genetics, 2015-05, Vol.52 (5), p.312

2015

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The ARID1B phenotype: What we have learned so far

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.276-289

2014

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Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene

European journal of medical genetics, 2015-01, Vol.58 (1), p.14-20

2015

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Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

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Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

American journal of human genetics, 2011-10, Vol.89 (4), p.543-550

2011

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The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Clinical heterogeneity of polish patients with KAT6B–related disorder

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients

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

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor [alpha] gene (THRA)

The ARID1B phenotype: What we have learned so far

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene

Phenotype and genotype in Nicolaides-Baraitser syndrome

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

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