JoannaWiszniewskaMD

PubMed

• Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center.
  Taylor Olmsted Kim, Choladda V Curry, Joanna Wiszniewska, M Tarek Elghetany, Lisa R Forbes Satter, Amanda B Grimes, Jenny M Despotovic> ;Pediatric Blood & Cancer. 2023 Apr 1
• Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
  Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S Tonk, Rob...> ;Journal of Medical Genetics. 2023 Jun 1
• 3 citations
  Adult acute myeloid leukemia patients withrearrangement have frequent cryptic translocations and unfavorable outcome.
  Wei Xie, Philipp W Raess, Jennifer Dunlap, Cristina Magallanes Hoyos, Hongmei Li, Peng Li, Ronan Swords, Susan B Olson, Fei Yang, Tauangtham Anekpuritanang, Shimin Hu,...> ;Leukemia & Lymphoma. 2022 Aug 1
• 50 citations
  An Organismal CNV Mutator Phenotype Restricted to Early Human Development
  Pengfei Liu, Bo Yuan, Claudia M.B. Carvalho, Arthur Wuster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M. Campbell, Zeynep Coban Akdemir, Violet Gelo...> ;Cell. 2017 Feb 23
• 8 citations
  Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features.
  Joanna Wiszniewska, Angshumoy Roy, Ramya P. Masand> ;The American Journal of Dermatopathology. 2016 Mar 1
• 91 citations
  The genetic basis of DOORS syndrome: an exome-sequencing study.
  Philippe M. Campeau, Dalia Kasperaviciute, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van d...> ;The Lancet. Neurology. 2014 Jan 1
• 90 citations
  Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
  Joanna Wiszniewska, Weimin Bi, Chad A. Shaw, Pawel Stankiewicz, Sung-Hae L. Kang, Amber N. Pursley, Seema R. Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai, Han...> ;European Journal of Human Genetics. 2014 Jan 1
• 8 citations
  Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
  Weimin Bi, Frank J. Probst, Joanna Wiszniewska, Katie Plunkett, Erin K. Roney, Brian S. Carter, M. Williams, Pawel Stankiewicz, Ankita Patel, Cathy A. Stevens, James R...> ;Journal of Medical Genetics. 2012 Nov 1
• 1 citations
  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.
  Lindsay C. Burrage, Richard E. Person, Angela Flores, Maria Theresa Villanos, Weimin Bi, Joanna Wiszniewska, Carlos A. Bacino> ;American Journal of Medical Genetics. Part A. 2012 Oct 1
• 37 citations
  Deletions in chromosome 6p22.3-p24.3, including ATXN1 , are associated with developmental delay and autism spectrum disorders
  Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant P. Shenai, Malgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gay...> ;Molecular Cytogenetics. 2012 Apr 5
• 12 citations
  WDR62 missense mutation in a consanguineous family with primary microcephaly.
  Carlos A. Bacino, Luis A. Arriola, Joanna Wiszniewska, Penelope E. Bonnen> ;American Journal of Medical Genetics. Part A. 2012 Mar 1
• 15 citations
  Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis
  Ganka Douglas, Joanna Wiszniewska, Mark H. Lipson, David R. Witt, Taryn McDowell, Mara Sifry-Platt, Michio Hirano, William J. Craigen, Lee-Jun C. Wong> ;Journal of Human Genetics. 2011 Oct 20
• 321 citations
  Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
  Pengfei Liu, Ayelet Erez, Sandesh C.S. Nagamani, Shweta U. Dhar, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, ...> ;Cell. 2011 Sep 16
• 105 citations
  Copy Number and SNP Arrays in Clinical Diagnostics
  Christian P. Schaaf, Joanna Wiszniewska, Arthur L. Beaudet> ;Annual Review of Genomics and Human Genetics. 2011 Sep 7
• 25 citations
  Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
  Neil A. Hanchard, Oleg A. Shchelochkov, Angshumoy Roy, Joanna Wiszniewska, Jing Wang, Edwina J. Popek, Saul J. Karpen, Lee-Jun C. Wong, Fernando Scaglia> ;Molecular Genetics and Metabolism. 2011 Jul 1
• 64 citations
  Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
  Pengfei Liu, Ayelet Erez, Sandesh C.S. Nagamani, Weimin Bi, Claudia M.B. Carvalho, Alexandra D. Simmons, Joanna Wiszniewska, Ping Fang, Patricia A. Eng, M. Lance Coope...> ;Human Molecular Genetics. 2011 May 15
• 31 citations
  Olfactory copy number association with age at onset of Alzheimer disease.
  Chad A. Shaw, Yi Li, Joanna Wiszniewska, Scott A. Chasse, S. N.Y. Zaidi, W. Jin, Brian Dawson, Kirk C. Wilhelmsen, J. R. Lupski, John W. Belmont, Rachelle S. Doody, Ki...> ;Neurology. 2011 Apr 12
• 75 citations
  Erratum: Identifi cation of incestuous parental relationships by SNP-based DNA microarrays (Lancet (2011) 377 (555-556))
  Christian P. Schaaf, David Scott, Joanna Wiszniewska, A L Beaudet> ;Lancet. 2011 Jan 1
• 44 citations
  Identification of incestuous parental relationships by SNP-based DNA microarrays.
  Christian P. Schaaf, David Scott, Joanna Wiszniewska, A L Beaudet> ;Lancet. 2011 Feb 12
• 46 citations
  Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH
  Anne Chun Hui Tsai, Cherilyn J Dossett, Carol S. Walton, Andrea E Cramer, Patti A. Eng, Beata Nowakowska, Amber N. Pursley, Pawel Stankiewicz, Joanna Wiszniewska, Sau ...> ;European Journal of Human Genetics. 2011 Jan 1
• 62 citations
  Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
  Zhishuo Ou, Pawel Stankiewicz, Zhilian Xia, Amy M. Breman, Brian Dawson, Joanna Wiszniewska, Przemyslaw Szafranski, M. Lance Cooper, Mitchell Rao, Lina Shao, Sarah T. ...> ;Genome Research. 2011 Jan 1
• 203 citations
  Detection of clinically relevant exonic copy‐number changes by array CGH
  Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson, Amber N. Pursley, Sung Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata Nowakowsk...> ;Human Mutation. 2010 Dec 1
• 106 citations
  Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
  Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema R. Lalani, ...> ;Human Mutation. 2010 Jul 1
• 6 citations
  Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.
  María del Valle Torrado, Priscilla H. Fernandes, Joanna Wiszniewska, Marta Gallego, Jorge Herrera, Carlos A. Bacino> ;American Journal of Medical Genetics. Part A. 2009 Dec 1
• 307 citations
  Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
  Pawel Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan Bolivar, Mislen ...> ;American Journal of Human Genetics. 2009 Jun 12
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