Publications - ERN ITHACA

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
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M, Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M, Solve-RD Consortium

European journal of human genetics : EJHG. 2021 Sep;29(9):1462–5
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, ’t Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H, Solve-RD consortium

European journal of human genetics : EJHG. 2021;29(9):1325–31
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel A-L, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H, DDD Study, Délot EC, Démurger F, Denommé-Pichon A-S, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM

American journal of human genetics. 2021;108(2):346–56