T
Tom Callens
Researcher at University of Alabama at Birmingham
Publications - 46
Citations - 2446
Tom Callens is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Population & Gene. The author has an hindex of 25, co-authored 45 publications receiving 2123 citations. Previous affiliations of Tom Callens include Ghent University & Ghent University Hospital.
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Journal ArticleDOI
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Magdalena Koczkowska,Tom Callens,Yunjia Chen,Alicia Gomes,Alesha D. Hicks,Angela Sharp,Eric Johns,Kim Armfield Uhas,Linlea Armstrong,Katherine A. Bosanko,Dusica Babovic-Vuksanovic,Laura A. Baker,Donald Basel,Mario Bengala,James T. Bennett,Chelsea Chambers,Lola K. Clarkson,Maurizio Clementi,Fanny Cortés,Mitch Cunningham,M. Daniela D'Agostino,Martin B. Delatycki,Maria Cristina Digilio,Laura Dosa,Silvia Esposito,Stephanie Fox,Mary Louise Freckmann,Christine Fauth,Teresa Giugliano,Sandra Giustini,Allison L. Goetsch,Yael Goldberg,Robert S. Greenwood,Cristin Griffis,Karen W. Gripp,Punita Gupta,E. 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 W. Lichty,Robert Listernick,Michael J. Lyons,Isabelle Maystadt,Mayra Martinez Ojeda,Carey McDougall,Lesley K. McGregor,Daniela Melis,Nancy J. Mendelsohn,Małgorzata J.M. Nowaczyk,June Ortenberg,Karin Panzer,John Pappas,Mary Ella M 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 Trapane,Eva Trevisson,Nicole J. Ullrich,Jenneke van den Ende,Samantha A. Schrier Vergano,Stephanie E Wallace,Michael F. Wangler,David D. Weaver,Kaleb Yohay,Elaine H. Zackai,Jonathan Zonana,Vickie Zurcher,Kathleen Claes,Marica Eoli,Yolanda Martin,Katharina Wimmer,Alessandro De Luca,Eric Legius,Ludwine Messiaen +107 more
TL;DR: Although clinically relevant genotype–phenotype correlations are rare in NF1, each affecting only a small percentage of individuals, together they impact counseling and management of a significant number of the NF1 population.
Journal ArticleDOI
The Development of Cutaneous Neurofibromas
Eeva-Mari Jouhilahti,Sirkku Peltonen,Tom Callens,Elina Jokinen,Anthony M. Heape,Ludwine Messiaen,Juha Peltonen,Juha Peltonen +7 more
TL;DR: It is speculated that the development of cutaneous neurofibromas includes the recruitment of multipotent NF1(+/-) precursor cells, which may be derived from the multipotent cells of the hair roots, which often are intimately associated with microscopic neurof fibromas.
Journal ArticleDOI
A stochastic movement simulator improves estimates of landscape connectivity.
Aurélie Coulon,Job Aben,Stephen Palmer,Virginie M. Stevens,Tom Callens,Diederik Strubbe,Luc Lens,Erik Matthysen,Michel Baguette,Justin M. J. Travis +9 more
TL;DR: In this article, the authors compared circuit theory and least-cost paths (LCPs) with an individual-based simulator (SMS) to predict genetic connectivity in the field of landscape connectivity.
Journal ArticleDOI
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.
Magdalena Koczkowska,Tom Callens,Alicia Gomes,Angela Sharp,Yunjia Chen,Alesha D. Hicks,Arthur S. Aylsworth,Amedeo A. Azizi,Donald Basel,Gary Bellus,Lynne M. Bird,Maria Blazo,Leah W. Burke,Ashley Cannon,Felicity Collins,Colette DeFilippo,Ellen Denayer,Maria Cristina 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 Listernick,Fortunato Lonardo,Maurice J. Mahoney,Mayra Martinez Ojeda,Marie T. McDonald,Carey McDougall,Nancy J. Mendelsohn,David T. Miller,Mari Mori,Rianne Oostenbrink,Sébastien Perreault,Mary Ella M Pierpont,Carmelo Piscopo,Dinel A. Pond,Linda M. Randolph,Katherine A. Rauen,Surya P. 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 Trapane,Nicole J. Ullrich,Emily Wakefield,Laurence E. Walsh,Michael F. Wangler,Elaine H. Zackai,Kathleen Claes,Katharina Wimmer,Rick van Minkelen,Alessandro De Luca,Yolanda Martin,Eric Legius,Ludwine Messiaen +69 more
TL;DR: It is demonstrated that individuals with the NF1 p.Met992del pathogenic variant have a mild NF1 phenotype lacking clinically suspected plexiform, cutaneous, or subcutaneous neurofibromas, however, learning difficulties are clearly part of the phenotypic presentation in these individuals and will require specialized care.
Journal ArticleDOI
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene
TL;DR: This is the first report showing that nonsense mutations in the NF1 gene can induce the skipping of a constitutive exon, in 21 unrelated NF1 patients using reverse transcription-polymerase chain reaction and protein truncation analysis.