Publications by authors named "Wojciech Wiszniewski"

46Publications

Screening for genetic mutations in patients with neuropathy without definite etiology is useful.

J Neurol 2020 Sep 12;267(9):2648-2654. Epub 2020 May 12.

Department of Neurology, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR, L22697239-3098, USA.

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http://dx.doi.org/10.1007/s00415-020-09899-wDOI Listing
September 2020

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

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

Pediatr Neurol 2016 07 9;60:83-7. Epub 2016 Apr 9.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125779PMC
July 2016

Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.

J Clin Neuromuscul Dis 2015 Dec;17(2):69-71

*Department of Neurology, University of Texas Health Science Center at Houston, Houston, TX; and †Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1097/CND.0000000000000096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4829393PMC
December 2015

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Secondary findings and carrier test frequencies in a large multiethnic sample.

Genome Med 2015 13;7(1):54. Epub 2015 Jun 13.

The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA ; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.

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http://dx.doi.org/10.1186/s13073-015-0171-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507324PMC
July 2015

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet 2014 Feb 23;94(2):303-9. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Genomic medicine and neurological disease.

Hum Genet 2011 Jul 19;130(1):103-21. Epub 2011 May 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-011-1001-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133694PMC
July 2011

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Hum Genet 2011 Mar 14;129(3):319-27. Epub 2010 Dec 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B, Houston, TX, USA.

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http://dx.doi.org/10.1007/s00439-010-0928-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625363PMC
March 2011

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Neurogenetics 2007 Nov 24;8(4):257-62. Epub 2007 Aug 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s10048-007-0094-0DOI Listing
November 2007

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Hum Mol Genet 2005 Oct 15;14(19):2769-78. Epub 2005 Aug 15.

Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddi310DOI Listing
October 2005

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

Neurol Neurochir Pol 2005 Mar-Apr;39(2):89-94

Neuromuscular Unit, Medical Research Centre, Polish Academy of Science, Warsaw.

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September 2005

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].

Med Wieku Rozwoj 2004 Jul-Sep;8(3 Pt 2):651-61

Instytut Medycyny Doświadczalnej i Klinicznej, Polska Akademia Nauk, Pawińskiego 5, 02-106 Warszawa, Poland.

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October 2006

Evolution of ABCA4 proteins in vertebrates.

J Mol Evol 2005 Jan;60(1):72-80

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00239-004-0118-4DOI Listing
January 2005

[Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy].

Med Wieku Rozwoj 2002 Oct-Dec;6(4):319-27

Zespol Badawczo-Leczniczy Chorob Nerwowo-Miesniowych, Instytut Medycyny Doswiadczalnej i Klinicznej, Banacha 1A, 02-097 Warszawa, Poland.

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August 2003

[The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss].

Med Wieku Rozwoj 2002 Oct-Dec;6(4):309-18

Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland.

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August 2003