J. Wiszniewska

发表

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Z. Ou, P. Stankiewicz, Z. Xia, 2011, Genome research.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Cell.

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

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

Copy number and SNP arrays in clinical diagnostics.

J. Wiszniewska, A. Beaudet, C. Schaaf, 2011, Annual review of genomics and human genetics.

Juvenile Myelomonocytic Leukemia

J. Wiszniewska, Choladda V. Curry, C. Curry, 2018 .

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

J. Wiszniewska, C. Bacino, S. Yatsenko, 2009, American journal of medical genetics. Part A.

Identification of incestuous parental relationships by SNP-based DNA microarrays

A. Beaudet, J. Wiszniewska, C. Schaaf, 2011, The Lancet.

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

J. Wiszniewska, Angshumoy Roy, F. Scaglia, 2011, Molecular genetics and metabolism.

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

R. W. Huff, J. Wiszniewska, E. Roeder, 2022, Journal of Medical Genetics.

Histopathological and molecular findings in a patient with Ras-associated autoimmune leukoproliferative disorder

J. Wiszniewska, R. Press, W. Xie, 2022, Human Pathology Reports.

Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome

J. Wiszniewska, B. Roa, P. Malleson, 2005, American journal of medical genetics. Part A.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2013, European Journal of Human Genetics.

Olfactory copy number association with age at onset of Alzheimer disease

J. Wiszniewska, C. Shaw, J. Belmont, 2011, Neurology.

De novo interstitial duplication of 15q11.2–q13.1 with complex maternal uniparental trisomy for the 15q11–q13 region in a patient with Prader–Willi syndrome

J. Wiszniewska, R. Person, W. Bi, 2012, American journal of medical genetics. Part A.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

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

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2012, Journal of Medical Genetics.

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

J. Wiszniewska, A. C. Chinault, Ankita Patel, 2008, American journal of medical genetics. Part A.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array‐comparative genomic hybridization

J. Wiszniewska, A. Beaudet, Yaping Yang, 2008, Human mutation.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Human molecular genetics.

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Tomas W. Fitzgerald, D. J. Driscoll, N. Carter, 2009, American journal of human genetics.

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

P. Stankiewicz, J. Wiszniewska, S. Cheung, 2011, European Journal of Human Genetics.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

Molecular Prenatal Diagnostic Testing

J. Wiszniewska, C. Eng, 2012 .

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Amit Phansalkar, Elaine Lyon, Monique A Johnson, 2008, The Journal of molecular diagnostics : JMD.

WDR62 missense mutation in a consanguineous family with primary microcephaly

J. Wiszniewska, P. Bonnen, C. Bacino, 2012, American journal of medical genetics. Part A.

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Lee-Jun C Wong, Michio Hirano, Joanna Wiszniewska, 2011, Journal of Human Genetics.

Molecular Genetic Testing for X-linked Mental Retardation Disorders

J. Wiszniewska, B. Roa, Joanna Wiszniewska, 2010 .

Performance Evaluation Study of a Novel Digital Microscopy System for the Quantitative Analysis of Bone Marrow Aspirates

Philipp W. Raess, J. Wiszniewska, Boris Katz, 2021, Blood.

Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features.

J. Wiszniewska, Angshumoy Roy, R. Masand, 2016, The American Journal of dermatopathology.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .