prof. Bruce Poppe

Juvenile polyposis syndrome with germline SMAD4 mutation : case series in tertiary care and critical review of literature

Friedel Vulsteke (UGent) , Venita D'Cruz (UGent) , L Krott, Suzane Moura Ribeiro (UGent) , Elke Van Daele (UGent) , Bruce Poppe (UGent) , Björn Menten (UGent) , Robin de Putter (UGent) , Pieter Hindryckx (UGent) , Anne Hoorens (UGent) , et al.

(2025) ACTA GASTRO-ENTEROLOGICA BELGICA. 88(3). p.277-280

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Harnessing cDNA analysis to enhance variant classification in cancer predisposition genes

Liesbeth Claeys (UGent) , Suzanne Vanhauwaert (UGent) , Annelies De Jaegher (UGent) , Kim De Leeneer (UGent) , Bram Parton (UGent) , Ilse Coene (UGent) , Martine De Bleeckere (UGent) , Katia De Pauw (UGent) , Arne De Visscher (UGent) , Elke D'Haese (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1273-1273

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Jeremie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1353-1354

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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Steven Callens (UGent) , Bart Dermaut (UGent) , Filomeen Haerynck (UGent) , Dimitri Hemelsoet (UGent) , Leslie Naessens, Bruce Poppe (UGent) , Sanne Steyaert (UGent) , Wim Terryn (UGent) , Arnaud Vanlander (UGent) , PATRICK VERLOO (UGent) , et al.

(2023) ACTA CLINICA BELGICA. In Acta Clinica Belgica 78(Supplement 1). p.11-12

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A1
open access

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).

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A1
open access

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Jérémie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2023) NATURE GENETICS. 55(11). p.1929-1940

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open access

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Madeleine Hellemans (UGent) , Elke Debackere (UGent) , Elke Bogaert (UGent) , Sofie Symoens (UGent) , Leslie Naesens (UGent) , Elien Lecomte, David Crosiers, et al.

(2023) NEUROLOGY-GENETICS. 9(3).

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open access

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).

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Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Elke Bogaert (UGent) , Elke Debackere (UGent) , Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel (UGent) , Griet De Clercq (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80

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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , PATRICK VERLOO (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

Academic Bibliography

prof. Bruce Poppe

Juvenile polyposis syndrome with germline SMAD4 mutation : case series in tertiary care and critical review of literature

Harnessing cDNA analysis to enhance variant classification in cancer predisposition genes

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

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