B. Wiśniowiecka-Kowalnik

发表

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

L. Vissers, A. Hoischen, R. Pfundt, 2009, Human molecular genetics.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

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

P. Stankiewicz, C. Shaw, E. Obersztyn, 2013, Journal of Applied Genetics.

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C. Shaw, E. Obersztyn, K. Derwinska, 2012 .

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report

B. Wiśniowiecka-Kowalnik, B. Nowakowska, J. Castañeda, 2017, Developmental period medicine.

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss

E. Obersztyn, B. Wiśniowiecka-Kowalnik, M. Smyk, 2022, Journal of Assisted Reproduction and Genetics.

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

B. Wiśniowiecka-Kowalnik, B. Nowakowska, 2019, Journal of Applied Genetics.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

PRACE POGLĄDOWE/REVIEWS ARTICLES

P. Stankiewicz, B. Wiśniowiecka-Kowalnik, Monika Kastory-Bronowska, 2013 .

Assessment of the role of copy-number variants in 150 patients with congenital heart defects.

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, Medycyna wieku rozwojowego.

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

P. Stankiewicz, C. Shaw, E. Obersztyn, 2013, Journal of Applied Genetics.

Multiple samples aCGH analysis for rare CNVs detection

Anna Gambin, Tomasz Gambin, Pawel Stankiewicz, 2013, 2011 IEEE International Conference on Bioinformatics and Biomedicine.

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

P. Stankiewicz, Z. Xia, M. L. Cooper, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Efficient Multiple Samples aCGH Analysis for Rare CNVs Detection

Anna Gambin, Tomasz Gambin, Maciej Sykulski, 2011, BIBM.

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Anna Gambin, Chad A Shaw, Tomasz Gambin, 2012, European Journal of Human Genetics.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

E. Obersztyn, R. Płoski, A. Barczyk, 2021, Genes.

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies

E. Obersztyn, B. Wiśniowiecka-Kowalnik, M. Smyk, 2022, Genes.

Autistic features with speech delay in a girl with an ∼1.5‐Mb deletion in 6q16.1, including GPR63 and FUT9

P. Stankiewicz, E. Obersztyn, K. Derwinska, 2009, Clinical genetics.

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

E. Zackai, B. Wiśniowiecka-Kowalnik, M. Smyk, 2023, Genes.

Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

E. Obersztyn, A. Barczyk, B. Wiśniowiecka-Kowalnik, 2021, Genes.

Clinical and molecular‐cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)

P. Stankiewicz, K. Derwinska, B. Wiśniowiecka-Kowalnik, 2008, American journal of medical genetics. Part A.

Clinical and Molecular-Cytogenetic Evaluation of a Family With Partial Jacobsen Syndrome Without Thrombocytopenia Caused by an 5 Mb Deletion del ( 11 ) ( q 24 . 3 )

P. Stankiewicz, K. Derwinska, B. Wiśniowiecka-Kowalnik, 2008 .

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

P. Stankiewicz, Z. Xia, M. L. Cooper, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.