Publications by authors named "Tom Callens"

25Publications

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Authors:
Katharina Wimmer Esther Schamschula Annekatrin Wernstedt Pia Traunfellner Albert Amberger Johannes Zschocke Peter Kroisel Yunjia Chen Tom Callens Ludwine Messiaen

Hum Mutat 2020 Jun 11;41(6):1145-1156. Epub 2020 Mar 11.

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

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June 2020

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

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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March 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

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

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April 2019

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

Authors:
Magdalena Koczkowska Yunjia Chen Tom Callens Alicia Gomes Angela Sharp Sherrell Johnson Meng-Chang Hsiao Zhenbin Chen Meena Balasubramanian Christopher P Barnett Troy A Becker Shay Ben-Shachar Debora R Bertola Jaishri O Blakeley Emma M M Burkitt-Wright Alison Callaway Melissa Crenshaw Karin S Cunha Mitch Cunningham Maria D D'Agostino Karin Dahan Alessandro De Luca Anne Destrée Radhika Dhamija Marica Eoli D Gareth R Evans Patricia Galvin-Parton Jaya K George-Abraham Karen W Gripp Jose Guevara-Campos Neil A Hanchard Concepcion Hernández-Chico LaDonna Immken Sandra Janssens Kristi J Jones Beth A Keena Aaina Kochhar Jan Liebelt Arelis Martir-Negron Maurice J Mahoney Isabelle Maystadt Carey McDougall Meriel McEntagart Nancy Mendelsohn David T Miller Geert Mortier Jenny Morton John Pappas Scott R Plotkin Dinel Pond Kenneth Rosenbaum Karol Rubin Laura Russell Lane S Rutledge Veronica Saletti Rhonda Schonberg Allison Schreiber Meredith Seidel Elizabeth Siqveland David W Stockton Eva Trevisson Nicole J Ullrich Meena Upadhyaya Rick van Minkelen Helene Verhelst Margaret R Wallace Yoon-Sim Yap Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen Claes Yolanda Martin Bruce R Korf Eric Legius Ludwine M Messiaen

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.

Authors:
Meng-Chang Hsiao Arkadiusz Piotrowski Andrzej Brunon Poplawski Tom Callens Chuanhua Fu Ludwine Messiaen

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.

Authors:
Meng-Chang Hsiao Arkadiusz Piotrowski Tom Callens Chuanhua Fu Katharina Wimmer Kathleen B M Claes Ludwine Messiaen

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.

Authors:
Kitiwan Rojnueangnit Jing Xie Alicia Gomes Angela Sharp Tom Callens Yunjia Chen Ying Liu Meagan Cochran Mary-Alice Abbott Joan Atkin Dusica Babovic-Vuksanovic Christopher P Barnett Melissa Crenshaw Dennis W Bartholomew Lina Basel Gary Bellus Shay Ben-Shachar Martin G Bialer David Bick Bruce Blumberg Fanny Cortes Karen L David Anne Destree Anna Duat-Rodriguez Dawn Earl Luis Escobar Marthanda Eswara Begona Ezquieta Ian M Frayling Moshe Frydman Kathy Gardner Karen W Gripp Concepcion Hernández-Chico Kurt Heyrman Jennifer Ibrahim Sandra Janssens Beth A Keena Isabel Llano-Rivas Kathy Leppig Marie McDonald Vinod K Misra Jennifer Mulbury Vinodh Narayanan Naama Orenstein Patricia Galvin-Parton Helio Pedro Eniko K Pivnick Cynthia M Powell Linda Randolph Salmo Raskin Jordi Rosell Karol Rubin Margretta Seashore Christian P Schaaf Angela Scheuerle Meredith Schultz Elizabeth Schorry Rhonda Schnur Elizabeth Siqveland Amanda Tkachuk James Tonsgard Meena Upadhyaya Ishwar C Verma Stephanie Wallace Charles Williams Elaine Zackai Jonathan Zonana Conxi Lazaro Kathleen Claes Bruce Korf Yolanda Martin Eric Legius Ludwine Messiaen

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.

Authors:
Balananda-Dhurjati Kumar Putcha Xu Jia Venkat Rao Katkoori Chura Salih Chandrakumar Shanmugam Trafina Jadhav Liselle C Bovell Michael P Behring Tom Callens Ludwine Messiaen Sejong Bae William E Grizzle Karan P Singh Upender Manne

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

Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.

Authors:
Hildegard Kehrer-Sawatzki Kathrin Bengesser Tom Callens Fady Mikhail Chuanhua Fu Morten Hillmer Martha E Walker Howard M Saal Yves Lacassie David N Cooper Ludwine Messiaen

Hum Mutat 2014 Dec;35(12):1469-75

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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December 2014

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

Authors:
Meng-Chang Hsiao Arkadiusz Piotrowski John Alexander Tom Callens Chuanhua Fu Fady M Mikhail Kathleen B M Claes Ludwine Messiaen

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

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Authors:
Douglas R Stewart Hilde Brems Alicia G Gomes Sarah L Ruppert Tom Callens Jennifer Williams Kathleen Claes Michael B Bober Rachel Hachen Leonard B Kaban Hua Li Angela Lin Marie McDonald Serge Melancon June Ortenberg Heather B Radtke Ignace Samson Robert A Saul Joseph Shen Elizabeth Siqveland Tomi L Toler Merel van Maarle Margaret Wallace Misti Williams Eric Legius Ludwine Messiaen

Genet Med 2014 Jun 14;16(6):448-59. Epub 2013 Nov 14.

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

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June 2014

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

Authors:
Carl Vangestel Tom Callens Viki Vandomme Luc Lens

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

Terrestrial Ecology Unit, Ghent University, Ghent, Belgium.

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March 2014

Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas.

Authors:
Venkat R Katkoori Chandrakumar Shanmugam Xu Jia Swaroop P Vitta Meenakshi Sthanam Tom Callens Ludwine Messiaen Dongquan Chen Bin Zhang Harvey L Bumpers Temesgen Samuel Upender Manne

PLoS One 2012 19;7(1):e30020. Epub 2012 Jan 19.

Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.

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June 2012

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

Authors:
Katharina Wimmer Tom Callens Annekatrin Wernstedt Ludwine Messiaen

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.

Authors:
Tom Callens Peter Galbusera Erik Matthysen Eric Y Durand Mwangi Githiru Jeroen R Huyghe Luc Lens

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.

Authors:
Eeva-Mari Jouhilahti Sirkku Peltonen Tom Callens Elina Jokinen Anthony M Heape Ludwine Messiaen Juha Peltonen

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

Bax expression is a candidate prognostic and predictive marker of colorectal cancer.

Authors:
Venkat R Katkoori Catalina Suarez-Cuervo Chandrakumar Shanmugam Nirag C Jhala Tom Callens Ludwine Messiaen James Posey Harvey L Bumpers Sreelatha Meleth William E Grizzle Upender Manne

J Gastrointest Oncol 2010 Dec;1(2):76-89

Department of Pathology, University of Alabama at Birmingham, Birmingham, AL.

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December 2010

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

Authors:
Michael Hölzel Sidong Huang Jan Koster Ingrid Ora Arjan Lakeman Huib Caron Wouter Nijkamp Jing Xie Tom Callens Shahab Asgharzadeh Robert C Seeger Ludwine Messiaen Rogier Versteeg René Bernards

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

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Authors:
Ludwine Messiaen Suxia Yao Hilde Brems Tom Callens Achara Sathienkijkanchai Ellen Denayer Emily Spencer Pamela Arn Dusica Babovic-Vuksanovic Carolyn Bay Gary Bobele Bruce H Cohen Luis Escobar Deborah Eunpu Theresa Grebe Robert Greenstein Rachel Hachen Mira Irons David Kronn Edmond Lemire Kathleen Leppig Cynthia Lim Marie McDonald Vinodh Narayanan Amy Pearn Robert Pedersen Berkley Powell Lawrence R Shapiro David Skidmore David Tegay Heidi Thiese Elaine H Zackai Raymon Vijzelaar Koji Taniguchi Toranoshin Ayada Fuyuki Okamoto Akihiko Yoshimura Annabel Parret Bruce Korf Eric Legius

JAMA 2009 Nov;302(19):2111-8

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, 720 20th St S, Birmingham, AL 35294, USA.

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November 2009

Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.

Authors:
Venkat R Katkoori Xu Jia Chakrapani Chatla Sanjay Kumar Selvarangan Ponnazhagan Tom Callens Ludwine Messiaen William E Grizzle Upender Manne

Front Biosci 2008 Jan 1;13:1050-61. Epub 2008 Jan 1.

Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294-7331, USA.

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January 2008

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.

Authors:
Sofie De Schepper Ophélia Maertens Tom Callens Jean-Marie Naeyaert Jo Lambert Ludwine Messiaen

J Invest Dermatol 2008 Apr 4;128(4):1050-3. Epub 2007 Oct 4.

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April 2008

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

Authors:
Ina Vandenbroucke Remco van Doorn Tom Callens Jan M Cobben Theo M Starink Ludwine Messiaen

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

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.

Authors:
Katharina Wimmer Manfred Mühlbauer Markus Eckart Tom Callens Helga Rehder Thomas Birkner Jules G Leroy Christa Fonatsch Ludwine Messiaen

Eur J Hum Genet 2002 May;10(5):334-8

Institut für Medizinische Biologie, University of Vienna, Austria.

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May 2002

Complex splicing pattern generates great diversity in human NF1 transcripts.

Authors:
Ina Vandenbroucke Tom Callens Anne De Paepe Ludwine Messiaen

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