Academic Bibliography

Mark

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Sofie Symoens (UGent) , Wouter Steyaert (UGent) , Lynn Demuynck (UGent) , Anne De Paepe (UGent) , Karin EM Diderich, Fransiska Malfait (UGent) and Paul Coucke (UGent)

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 173(4). p.1047-1050

Mark

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Ruben Van Paemel (UGent) , Pauline De Bruyne (UGent) , Saskia van der Straaten (UGent) , Marleen D'Hondt (UGent) , Urlien Fränkel, Annelies Dheedene (UGent) , Björn Menten (UGent) and Bert Callewaert (UGent)

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 173(11). p.3104-3108

Mark

Y RIN2 syndrome : expanding the clinical phenotype

Simonetta Rosato, Delfien Syx (UGent) , Ivan Ivanovski, Marzia Pollazzon, Daniela Santodirocco, Loredana De Marco, Marina Beltrami, Bert Callewaert (UGent) , Livia Garavelli and Fransiska Malfait (UGent)

(2016) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 170(9). p.2408-2415

Mark

Barber-Say syndrome and Ablepharon-Macrostomia syndrome : an overview

Beatrice De Maria, Laura Mazzanti, Nathalie Roche (UGent) and Raoul C Hennekam

(2016) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 170(8). p.1989-2001

Mark

Association between Kniest dysplasia and chondrosarcoma in a child

Audrey Hochart, Anne Dieux, Paul Coucke (UGent) , Damien Fron, Pierre Fayoux, Pierre Labalette, Nathalie Boutry, Fabienne Escande, Sébastien Aubert, Florence Renaud, et al.

(2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(12). p.3204-3208

Mark

Recurrent duplications of 17q12 associated with variable phenotypes

Elyse Mitchell, Andrew Douglas, Susanne Kjaegaard, Bert Callewaert (UGent) , Arnaud Vanlander (UGent) , Sandra Janssens (UGent) , Amy Lawson Yuen, Cindy Skinner, Pinella Failla, Antonino Alberti, et al.

(2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(12). p.3038-3045

Mark

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation

Ilse Meerschaut (UGent) , Maria Bordon Cueto De Braem (UGent) , Catharina Dhooge (UGent) , Patricia Delbeke, Arnaud Vanlander (UGent) , Amos Simon, Christoph Klein, R Frank Kooy, Raz Somech and Bert Callewaert (UGent)

(2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(12). p.3214-3218

Mark

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Yaojuan Jia, Jacoba J Louw, Jeroen Breckpot, Bert Callewaert (UGent) , Catherine Barrea, Yves Sznajer, Marc Gewillig, Erika Souche, Luc Dehaspe, Joris Robert Vermeesch, et al.

(2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(8). p.1822-1829

Mark

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

YJ Crow, DS Chase, JL Schmidt, M Szynkiewicz, GMA Forte, HL Gornall, A Oojageer, B Anderson, A Pizzino, G Helman, et al.

(2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(2). p.296-312

Mark

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country

Sheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, Dhanyalakshmi Narayanan, Laxmi Padmanabhan, Katta Mohan Girisha, Sara S Cathey, Anne De Paepe (UGent) , Fransiska Malfait (UGent) , Delfien Syx (UGent) , et al.

(2014) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 164A(9). p.2317-2323

Academic Bibliography

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Y RIN2 syndrome : expanding the clinical phenotype

Barber-Say syndrome and Ablepharon-Macrostomia syndrome : an overview

Association between Kniest dysplasia and chondrosarcoma in a child

Recurrent duplications of 17q12 associated with variable phenotypes

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country

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