Publications - ERN ITHACA

Reflections on the ERN ITHACA 2024 Patient Workshop in Bucharest

Tanja Zdolsek Draksler, Anne Hugon, Dorica Dan

Rare Volume 3, 2025, 100072
Further delineation of the SCAF4-associated neurodevelopmental disorder

Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, McNiven V, Dupuis L, Steindl K, Begemann A, Rauch A, Suter AA, Isidor B, Mercier S, Nizon M, Cogné B, Deb W, Besnard T, Haack TB, Falb RJ, Müller AJ, Linden T, Haldeman-Englert CR, Ockeloen CW, Mattioli F, Reymond A, Ibrahim N, Naz S, Lacaze E, Bassetti JA, Hoefele J, Brunet T, Riedhammer KM, Elloumi HZ, Person R, Zou F, Kahle JJ, Cremer K, Schmidt A, Delrue MA, Almeida PM, Ramos F, Srivastava S, Quinlan A, Robertson S, Manka E, Kuechler A, Spranger S, Nowaczyk MJM, Elshafie RM, Alsharhan H, Hillman PR, Dunnington LA, Braakman HMH, McKee S, Moresco A, Ignat AD, Newbury-Ecob R, Banneau G, Patat O, Kuerbitz J, Rzucidlo S, Sell SS, Gordon P, Schuhmann S, Reis A, Halleb Y, Stoeva R, Keren B, Al Masseri Z, Tümer Z, Hammer-Hansen S, Krüger Sølyst S, Steigerwald CG, Abreu NJ, Faust H, Müller-Nedebock A, Tran Mau-Them F, Sticht H, Zweier C

European Journal of Human Genetics. 2024 Dec 12. doi: 10.1038/s41431-024-01760-2.
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe

Quinn S, Walsh N, Streata I, Ververi A, Kulshrestha S, Puri RD, Riza AL, Walsh A, Gorman K, Crushell E, Green A, Kenny J, Lynch SA

European Journal of Medical Genetics. 2024 Dec 19;73:104989.
Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 1

Petrák B, Zemková D, Seeman P, Tesner P, Kremlíková Pourová R

Česká a slovenská neurologie a neurochirurgie. 2021 Apr 30;84/117(2).
Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity

Čopíková J, Katra R, Kremlíková Pourová R

Otorinolaryngologie a foniatrie. 2021 Mar 20;70(1):39–46
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome

Skrivan J, Jurovcik M, Aksenovova Z, Astl J, Pourova RK, Dytrych P, Sieger T

Balkan medical journal. 2021;38(4):244–8
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, Forzano F, European Society of Human Genetics

European journal of human genetics : EJHG. 2021;29(3):365–77
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

van Gucht I, Krebsova A, Diness BR, Laga S, Adlam D, Kempers M, Samani NJ, Webb TR, Baranowska AA, van den Heuvel L, Perik M, Luyckx I, Peeters N, Votypka P, Macek M, Meester J, van Laer L, Verstraeten A, Loeys BL

International journal of molecular sciences. 2021 Jul 1;22(13)
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

de Boer E, Ockeloen CW, Matalonga L, Horvath R, Solve-RD SNV-indel working group, Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I, Solve-RD-DITF-ITHACA, Trimouille A, Kleefstra T, Verloes A, Vissers LELM

European journal of human genetics : EJHG. 2021;29(9):1359–68
Rare diseases: past achievements and future prospects

Tumiene B, Kristoffersson U, Hedley V, Kääriäinen H

Journal of community genetics. 2021 Apr;12(2):205–6