Ghent University Academic Bibliography

Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

Lukas Nollet (UGent) , Laurence Campens (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Dimitri Hemelsoet (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2022) JOURNAL OF MEDICAL GENETICS.

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IGF1 haploinsufficiency in children with short stature : a case series

Willem Staels (UGent) , Nuriya Alev, Isabelle Maystadt, Olimpia Chivu, Jean De Schepper (UGent) , Claudine Heinrichs and Dominique Beckers

(2021) EUROPEAN JOURNAL OF ENDOCRINOLOGY. 185(2). p.323-332

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Journal Article
A2
open access

Pediatric vascular tumors of the liver : review from the pathologist’s point of view

Fleur Cordier (UGent) , Anne Hoorens (UGent) , Jo Van Dorpe (UGent) and David Creytens (UGent)

(2021) WORLD JOURNAL OF HEPATOLOGY. 13(10). p.1316-1327

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Journal Article
A1
open access

New variants and in silico analyses in GRK1 associated Oguchi disease

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd (UGent) , James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, et al.

(2021) HUMAN MUTATION. 42(2). p.164-176

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Journal Article
A1
open access

A network of stress-related genes regulates hypocotyl elongation downstream of selective auxin perception

Adeline Rigal, Siamsa M Doyle, Andrés Ritter Traub (UGent) , Sara Raggi, Thomas Vain, José Antonio O’Brien, Alain Goossens (UGent) , Laurens Pauwels (UGent) and Stéphanie Robert

(2021) PLANT PHYSIOLOGY. 187(1). p.430-445

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Journal Article
A1
open access

Galactokinase deficiency : lessons from the GalNet registry

M. Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, M. Luz Couce, Aurélie Empain, Can Ficicioglu, Natalia Juliá Palacios, Mariela M. De Los Santos De Pelegrin, et al.

(2021) GENETICS IN MEDICINE. 23(1). p.202-210

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Journal Article
A1
open access

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

R. Koster, R. D. Brandao, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, Kathleen Claes (UGent) , A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V van der Schoot, et al.

(2021) NPJ GENOMIC MEDICINE. 6(1).

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A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

BM Wenger, N Patel, M Lui, A Moscati, R Do, DR Stewart, M Tartaglia, Laura Muiño Mosquera (UGent) , Julie De Backer (UGent) , AR Kontorovich, et al.

(2021) GENETICS IN MEDICINE. 23. p.94-102

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Feather gene expression elucidates the developmental basis of plumage iridescence in African starlings

Dustin R Rubenstein, André Corvelo, Matthew D. MacManes, Rafael Maia, Giuseppe Narzisi, Anastasia Rousaki (UGent) , Peter Vandenabeele (UGent) , Matthew Shawkey (UGent) and Joseph Solomon

(2021) JOURNAL OF HEREDITY. 112(5). p.417-429

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Journal Article
A1
open access

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases

Kenshi Hayashi, Ryota Teramoto, Akihiro Nomura, Yoshihiro Asano, Manu Beerens, Yasutaka Kurata, Isao Kobayashi, Noboru Fujino, Hiroshi Furusho, Kenji Sakata, et al.

(2020) CARDIOVASCULAR RESEARCH. 116(13). p.2116-2130

Academic Bibliography

Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

IGF1 haploinsufficiency in children with short stature : a case series

Pediatric vascular tumors of the liver : review from the pathologist’s point of view

New variants and in silico analyses in GRK1 associated Oguchi disease

A network of stress-related genes regulates hypocotyl elongation downstream of selective auxin perception

Galactokinase deficiency : lessons from the GalNet registry

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Feather gene expression elucidates the developmental basis of plumage iridescence in African starlings

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases

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