List of works - Beata Nowakowska

17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome

scientific article published in April 2016

A catalog of hemizygous variation in 127 22q11 deletion patients

scientific article published on 14 January 2016

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report

scientific article

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

scientific article published on 15 March 2021

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

scientific article published on 21 May 2015

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

scientific article (publication date: 2012)

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

scientific article published on 18 March 2016

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

scientific article published on 03 December 2013

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

scientific article published on 12 May 2017

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

scientific article

Clinical interpretation of copy number variants in the human genome

scientific article published on 30 September 2017

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

scientific article published in November 2007

Detection of clinically relevant exonic copy-number changes by array CGH.

scientific article

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

scientific article published on 22 June 2006

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

scientific article

Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification

scientific article published on 18 May 2020

Genetics and epigenetics of autism spectrum disorder-current evidence in the field

article

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

scientific article published on 11 December 2012

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

scientific article published on 21 January 2015

Influence of genetic factors on the susceptibility to HBV infection, its clinical pictures, and responsiveness to HBV vaccination.

scientific article

Is p53 intronic variant G13964C associated with predisposition to cancer?

scientific article published on January 1, 2003

Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K).

scientific article

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

scientific article published on 31 October 2015

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.

scientific article

Null variants in AGRN cause lethal fetal akinesia deformation sequence

scientific article published on 11 December 2019

Opioid Receptors in Psoriatic Skin: Relationship with Itch.

scientific article

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

scientific article published on 09 April 2016

Pan-european landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium

scientific article published on 05 November 2020

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

scientific article published on 14 September 2011

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

scientific article published on 02 September 2019

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

scientific article published on 2 April 2018

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review

scientific article published on 31 January 2020

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

scientific article published on January 2005

Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

scientific article published on 16 February 2022

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Risk of meningomyelocele mediated by the common 22q11.2 deletion

scientific article published on 02 May 2024

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

scientific article

Targeted prenatal diagnosis of Pallister-Killian syndrome.

scientific article

The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS.

scientific article published in December 2017

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

scientific article

The impact of non-HLA antibodies directed against endothelin-1 type A receptors (ETAR) on early renal transplant outcomes

scientific article published on 31 October 2013

The influence of non-HLA antibodies directed against angiotensin II type 1 receptor (AT1R) on early renal transplant outcomes

scientific article published on 30 June 2014

The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency

scientific article published on 01 July 2019

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

scientific article published in July 2014

Valproic acid confers functional pluripotency to human amniotic fluid stem cells in a transgene-free approach

scientific article

Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1 polymorphisms in prepubertal Ukrainian boys

scientific article published on 28 September 2011

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]

scientific article published on 01 October 2011

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

scientific article published on 01 April 2009

List of works by Beata Nowakowska

17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome

A catalog of hemizygous variation in 127 22q11 deletion patients

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Clinical interpretation of copy number variants in the human genome

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

Detection of clinically relevant exonic copy-number changes by array CGH.

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification

Genetics and epigenetics of autism spectrum disorder-current evidence in the field

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Influence of genetic factors on the susceptibility to HBV infection, its clinical pictures, and responsiveness to HBV vaccination.

Is p53 intronic variant G13964C associated with predisposition to cancer?

Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K).

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.

Null variants in AGRN cause lethal fetal akinesia deformation sequence

Opioid Receptors in Psoriatic Skin: Relationship with Itch.

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Pan-european landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

Targeted prenatal diagnosis of Pallister-Killian syndrome.

The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS.

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

The impact of non-HLA antibodies directed against endothelin-1 type A receptors (ETAR) on early renal transplant outcomes

The influence of non-HLA antibodies directed against angiotensin II type 1 receptor (AT1R) on early renal transplant outcomes

The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Valproic acid confers functional pluripotency to human amniotic fluid stem cells in a transgene-free approach

Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1 polymorphisms in prepubertal Ukrainian boys

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]