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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Human molecular genetics, 2013-12, Vol.22 (25), p.5121-5135

2013

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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 characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Journal of applied genetics, 2021-09, Vol.62 (3), p.477-485

2021

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11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Pediatrics international, 2015-06, Vol.57 (3), p.486-491

2015

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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.172-178

2013

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Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.922-926

2012

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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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Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.185-195

2011

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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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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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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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Genetic causes of syndromic craniosynostoses

European journal of paediatric neurology, 2013-05, Vol.17 (3), p.221-224

2013

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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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A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.72-78

2017

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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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Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

Human mutation, 2005-03, Vol.25 (3), p.321-321

2005

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The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2541-2550

2014

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

SpringerPlus, 2016-09, Vol.5 (1), p.1638-1638, Article 1638

2016

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Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6 , KLF13 and UBR3 Genes to Novel Disease Phenotype

Journal of clinical medicine, 2020-04, Vol.9 (5), p.1245

2020

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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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High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study

The journal of clinical endocrinology and metabolism, 2010-07, Vol.95 (7), p.3133-3140

2010

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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

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

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

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

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

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

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

Clinical heterogeneity of polish patients with KAT6B–related disorder

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?

Genetic causes of syndromic craniosynostoses

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

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

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

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

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

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

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

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6 , KLF13 and UBR3 Genes to Novel Disease Phenotype

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

High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study

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