WojciechKrzysztofWiszniewskiMDPh.D.

PubMed

• Practice Patterns and Barriers to Vascular Genetic Testing among Vascular Surgeons.
  Prem Chand Gupta, James M Dittman, Siddharth K Prakash, Wojciech Wiszniewski, Niten Singh, Matthew R Smeds, Sherene Shalhub> ;Annals of Vascular Surgery. 2024 Apr 8
• 3 citations
  Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
  Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro M...> ;American Journal of Human Genetics. 2023 Aug 3
• 2 citations
  Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.
  Timothy D O'Brien, Amiee B Potter, Catherine C Driscoll, Gregory Goh, John H Letaw, Sarah McCabe, Jane Thanner, Arpita Kulkarni, Rossana Wong, Samuel Medica, Tiana Wee...> ;American Journal of Human Genetics. 2023 Aug 3
• 4 citations
  EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
  Christin S Adamo, Aude Beyens, Alvise Schiavinato, Douglas R Keene, Sara F Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore...> ;American Journal of Human Genetics. 2022 Dec 1
• 3 citations
  Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
  Alayne P Meyer, Megan E Forrest, Stefan Nicolau, Wojciech Wiszniewski, Mary Pat Bland, Chang-Yong Tsao, Anthony Antonellis, Nicolas J Abreu> ;Human Mutation. 2022 Jul 1
• 2 citations
  The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981
  Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Pawel Gawlinski, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Małgorzata Rydzanicz, Joanna Kosińska, Pawel Wlasien...> ;Journal of Mother and Child. 2021 Apr 30
• 4 citations
  Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
  Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesińska-Figatowska, Małgorzata Rydzanicz, Rafał Pł...> ;Genes. 2021 Apr 19
• 7 citations
  Screening for genetic mutations in patients with neuropathy without definite etiology is useful.
  Braden Vogt, Nizar Chahin, Wojciech Wiszniewski, Thomas Ragole, Chafic Karam> ;Journal of Neurology. 2020 Sep 1
• 16 citations
  Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
  , , , , , , , , , , , , , , , , , , , , , > ;Neuron. 2020 Apr 22
• 20 citations
  Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
  Tadahiro Mitani, Jaya Punetha, Ibrahim Akalin, Davut Pehlivan, Mateusz Dawidziuk, Zeynep Coban Akdemir, Sarenur Yilmaz, Ezgi Aslan, Jill V. Hunter, Hadia Hijazi, Chris...> ;American Journal of Human Genetics. 2019 Nov 7
• 38 citations
  Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
  Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H G D...> ;American Journal of Human Genetics. 2019 Oct 3
• 26 citations
  Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
  Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesińska-Figatowska, Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Coban Akdemir, Tamar Harel, Ender Kar...> ;European Journal of Human Genetics. 2018 Apr 30
• 162 citations
  Lessons learned from additional research analyses of unsolved clinical exome cases
  Mohammad K. Eldomery, Zeynep H. Coban-Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jon...> ;Genome Medicine. 2017 Mar 21
• 178 citations
  Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
  Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu S. Samarakoon, Tomasz Gambin, Ivan K. Chinn, Zeynep Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, ...> ;The Journal of Allergy and Clinical Immunology. 2017 Jan 1
• 46 citations
  Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
  Hui Yu, Victor Wei Zhang, Asbjørg Stray-Pedersen, Imelda C. Hanson, Lisa R. Forbes, M. Teresa de la Morena, Ivan K. Chinn, Elizabeth Gorman, Nancy J. Mendelsohn, Tamar...> ;The Journal of Allergy and Clinical Immunology. 2016 Oct 1
• 22 citations
  Erratum: GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (American Journal of Human Genetics (2016) 99...
  Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napol...> ;American Journal of Human Genetics. 2016 Sep 1
• 17 citations
  GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
  Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolio...> ;American Journal of Human Genetics. 2016 Sep 1
• 22 citations
  PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies
  Pawel Gawlinski, Renata Posmyk, Tomasz Gambin, Danuta Sielicka, Monika Chorazy, Beata Nowakowska, Shalini N. Jhangiani, Donna M. Muzny, Monika Bekiesińska-Figatowska, ...> ;Pediatric Neurology. 2016 Jul 1
• 154 citations
  Molecular diagnostic experience of whole-exome sequencing in adult patients
  Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Matthew N. Bainbridge, Zhiyv Niu, Xia Wang, Shweta U. Dhar, Wojciech Wiszniewski, Zeynep Coban Akdemir, Tomasz Ga...> ;Genetics in Medicine. 2016 Jul 1
• 16 citations
  The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
  Davut Pehlivan, Christine R. Beck, Yuji Okamoto, Tamar Harel, Zeynep Coban Akdemir, Shalini N. Jhangiani, Marjorie Withers, Meryem Tuba Goksungur, Claudia M.B. Carvalh...> ;Genetics in Medicine. 2016 May 1
• 25 citations
  Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.
  Thy Nguyen, Suur Biliciler, Wojciech Wiszniewski, Kazim A. Sheikh> ;Journal of Clinical Neuromuscular Disease. 2015 Dec 1
• 214 citations
  Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
  Ender Karaca, Tamar Harel, Davut Pehlivan, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban Akdemir, Claudia Gonzaga-Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Camp...> ;Neuron. 2015 Nov 4
• 182 citations
  Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
  Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N....> ;Cell Reports. 2015 Aug 18
• 430 citations
  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
  Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, C. D. Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, ...> ;American Journal of Human Genetics. 2015 Aug 6
• 40 citations
  Secondary findings and carrier test frequencies in a large multiethnic sample.
  Tomasz Gambin, Shalini N. Jhangiani, Jennifer E. Below, Ian M. Campbell, Wojciech Wiszniewski, Donna M. Muzny, Jeffrey Staples, Alanna C. Morrison, Matthew N. Bainbrid...> ;Genome Medicine. 2015 Jun 13
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