Publications by authors named "Tom Callens"

25Publications

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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January 2020

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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January 2018

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.

Neurogenetics 2017 Jul 11;18(3):169-174. Epub 2017 Mar 11.

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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July 2017

Decoding NF1 Intragenic Copy-Number Variations.

Am J Hum Genet 2015 Aug 16;97(2):238-49. Epub 2015 Jul 16.

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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August 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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November 2015

Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.

PLoS One 2015 12;10(6):e0129216. Epub 2015 Jun 12.

Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America; Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.

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March 2016

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.

Hum Mutat 2014 Jul 21;35(7):891-8. Epub 2014 May 21.

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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July 2014

Sex-biased dispersal at different geographical scales in a cooperative breeder from fragmented rainforest.

PLoS One 2013 9;8(8):e71624. Epub 2013 Aug 9.

Terrestrial Ecology Unit, Ghent University, Ghent, Belgium.

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March 2014

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.

PLoS Genet 2011 Nov 17;7(11):e1002371. Epub 2011 Nov 17.

Division Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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November 2011

Genetic signature of population fragmentation varies with mobility in seven bird species of a fragmented Kenyan cloud forest.

Mol Ecol 2011 May 24;20(9):1829-44. Epub 2011 Feb 24.

Terrestrial Ecology Unit, Department of Biology, Ghent University, K.L. Ledeganckstraat 35, B-9000 Ghent, Belgium.

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May 2011

The development of cutaneous neurofibromas.

Am J Pathol 2011 Feb;178(2):500-5

Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.

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February 2011

NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome.

Cell 2010 Jul;142(2):218-29

Divisions of Molecular Carcinogenesis and Molecular Genetics, Center for Biomedical Genetics and Cancer Genomics Center, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.

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July 2010

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.

Hum Genet 2004 Feb 6;114(3):284-90. Epub 2003 Nov 6.

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185-0K5, 9000 Ghent, Belgium.

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February 2004

Complex splicing pattern generates great diversity in human NF1 transcripts.

BMC Genomics 2002 May 24;3:13. Epub 2002 May 24.

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

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May 2002