Publikationen

2021

Hetzelt KLML, Winterholler M, Kerling F, Rauch Ch, Ekici AB, Winterpacht A, Vasileiou G, Uebe St, Thiel ChT, Kraus C, Reis A, Zweier Ch, Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). Am J Med Genet A. 2021, 10.1002/ajmg.a.62496.

Gregor 1A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier Ch, De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Hum Mol Genet. 2021, 10.1093/hmg/ddab265.

Kosztyła-Hojna B, Borys J, Zdrojkowski M, Duchnowska E, Kraszewska A, Wasilewska D, Zweier Ch, Midro AT, Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study. Appl Clin Genet. 2021, 10.2147/TACG.S316215.

Liu S, Aldinger KA, Cheng ChV, Kiyama T, Dave M, McNamara HK, Zhao W, Caraffi StG, Ivanovski I, Errichiello E, Zweier Ch, Zuffardi O, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho 1 MT, Weber A, Swale A, Badea TC, Mao ChA, Garavelli L, Dobyns WB, Reinberg D, NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Mol Cell. 2021, 10.1016/j.molcel.2021.09.020.

Hüffmeier U, Kraus C, Reuter MS, Uebe St, Abbott MA, Ahmed SA, Rawson KL, Barr E, Hong Li, Bruel AL, Faivre 6L, Tran Mau-Them F, Botti Ch, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Guillen Sacoto MJ, Henderson LB, Blake Palculict T, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C: EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis 2021,  18;16(1):136.

Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson 7A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto LA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF,  Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Cher Yeo N, Kreienkamp HJ, Lessel D, Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021, 13(1):90.

Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, Weyhreter H, Bassuk AG, Chopra M, Rubboli G, Møller RS, PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Eur J Hum Genet. 2021, 29(8):1235-1244.

Oates St, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Klint Nielsen JE, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Rg Taylor M, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK, ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clin Genet. 2021, 100(4):412-429.

Buhler VMM, Berger L, Schaller A, Zinkernagel MA, Wolf S, Escher P, Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes (Basel) 2021, 26;12(6):812.

Faundes V, Goh St, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S, Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genet Med. 2021, 23(7):1202-1210.

Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C: Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. Eur J Med Genet. 2021, 64(1):104123.

2020

Vaclavik V, Naderi F, Schaller A, Escher P: Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. Ophthalmic genetics 2020, 41(1):73-78.

Selno ATH, Schlichtner S, Yasinska IM, Sakhnevych SS, Fiedler W, Wellbrock J, Klenova E, Pavlova L, Gibbs BF, Degen M et al: Transforming growth factor beta type 1 (TGF-beta) and hypoxia-inducible factor 1 (HIF-1) transcription complex as master regulators of the immunosuppressive protein galectin-9 expression in human cancer and embryonic cells. Aging 2020, 12(23):23478-23496.

Santi M, Graf S, Zeino M, Cools M, Van De Vijver K, Trippel M, Aliu N, Fluck CE: Approach to the virilizing girl at puberty. The Journal of clinical endocrinology and metabolism 2020.

Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T et al: Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Hum Genet 2020, 139(5):575-592.

Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C: Loss of PHF6 leads to aberrant development of human neuron-like cells. Scientific reports 2020, 10(1):19030.

Degen M, Girousi E, Feldmann J, Parisi L, La Scala GC, Schnyder I, Schaller A, Katsaros C: A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology 2020, 8:583115.

Acierno JS, Xu C, Papadakis GE, Niederlander NJ, Rademaker JD, Meylan J, Messina A, Kolesinska Z, Quinton R, Lang-Muritano M et al: Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism. Genetics in medicine 2020, 22(11):1759-1767.

2019

Sinnecker T, Andelova M, Mayr M, Ruegg S, Sinnreich M, Hench J, Frank S, Schaller A, Stippich C, Wuerfel J et al: Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. BMC Neurol 2019, 19(1):91.

Neubauer J, Wang Z, Rougier JS, Abriel H, Rieubland C, Bartholdi D, Haas C, Medeiros-Domingo A: Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death. International journal of legal medicine 2019, 133(6):1733-1742.

Lazdinyte S, Schorderet DF, Schaller A, Valmaggia C, Todorova MG: Analysis of Inherited Optic Neuropathies. Klinische Monatsblatter fur Augenheilkunde 2019, 236(4):451-461.

Jackson CB, Huemer M, Bolognini R, Martin F, Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Suomalainen A et al: A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Hum Mol Genet 2019, 28(4):639-649.

Fasler-Kan E, Aliu N, Haecker FM, Maltsev N, Ruggiero S, Cholewa D, Bartenstein A, Milosevic M, Berger SM: Chromosomal Heterogeneity of the G-401 Rhabdoid Tumor Cell Line: Unusual Partial 7p Trisomy. Frontiers in medicine 2019, 6:187.

Bachmann KF, Nebiker M, Johner C, Bregy R, Schaller A, Novak U, Jakob SM: Rare Case of Transcutaneous Oxygen Desaturation in a Cancer Patient: A Case Report and Diagnostic Approach for a Recurrent Problem. A&A practice 2019, 12(4):96-98.

Asatryan B, Schaller A, Seiler J, Servatius H, Noti F, Baldinger SH, Tanner H, Roten L, Dillier R, Lam A et al: Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease 2019, 123(12):2031-2038.

2018

Xu C, Cassatella D, van der Sloot AM, Quinton R, Hauschild M, De Geyter C, Fluck C, Feller K, Bartholdi D, Nemeth A et al: Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine 2018, 20(8):872-881.

Servatius H, Porro A, Pless SA, Schaller A, Asatryan B, Tanner H, de Marchi SF, Roten L, Seiler J, Haeberlin A et al: Phenotypic Spectrum of HCN4 Mutations: A Clinical Case. Circulation Genomic and precision medicine 2018, 11(2):e002033.

Schreglmann SR, Riederer F, Galovic M, Ganos C, Kagi G, Waldvogel D, Jaunmuktane Z, Schaller A, Hidding U, Krasemann E et al: Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. Movement disorders 2018, 33(1):146-155.

Medeiros Domingo A, Bolliger S, Grani C, Rieubland C, Hersch D, Asatryan B, Schyma C, Saguner A, Wyler D, Bhuiyan Z et al: Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice. Swiss medical weekly 2018, 148:w14638.

Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L: Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Clinical case reports 2018, 6(2):420-425.

Fasler-Kan E, Aliu N, Wunderlich K, Ketterer S, Ruggiero S, Berger S, Meyer P: The Retinal Pigment Epithelial Cell Line (ARPE-19) Displays Mosaic Structural Chromosomal Aberrations. Methods Mol Biol 2018, 1745:305-314.

Chua HC, Servatius H, Asatryan B, Schaller A, Rieubland C, Noti F, Seiler J, Roten L, Baldinger SH, Tanner H et al: Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results. Clinical research in cardiology 2018, 107(8):670-678.

Camats N, Fernandez-Cancio M, Audi L, Schaller A, Fluck CE: Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? Eur J Hum Genet 2018, 26(9):1329-1338.

Berezowska S, Christe A, Bartholdi D, Koch M, von Garnier C: Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1, 197(5):661-662.

Baruteau AE, Kyndt F, Behr ER, Vink AS, Lachaud M, Joong A, Schott JJ, Horie M, Denjoy I, Crotti L et al: SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European heart journal 2018, 39(31):2879-2887.

Bacher U, Porret N, Joncourt R, Sanz J, Aliu N, Wiedemann G, Jeker B, Banz Y, Pabst T: Pitfalls in the molecular follow up of NPM1 mutant acute myeloid leukemia. Haematologica 2018, 103(10): e486-e488.

Asatryan B, Schaller A, Bartholdi D, Medeiros-Domingo A: Late-onset severe long QT syndrome. Annals of noninvasive electrocardiology 2018, 23(4):e12517.

Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C et al: Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur J Hum Genet 2018, 26(2):197-209.

Amini P, Stojkov D, Felser A, Jackson CB, Courage C, Schaller A, Gelman L, Soriano ME, Nuoffer JM, Scorrano L et al: Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production. Nat Commun 2018, 9(1):2958.

Akdis D, Saguner AM, Medeiros-Domingo A, Schaller A, Balmer C, Steffel J, Brunckhorst C, Duru F: Multiple clinical profiles of families with the short QT syndrome. Europace: European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2018, 20(FI1):f113-f121.

2017

Tran C, Serratrice J, Nuoffer JM, Schaller A, Favrat B, Barbey F, Lobrinus JA, Kern I, Kuntzer T, Ballhausen D: [Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]. Revue medicale suisse 2017, 13(546):159-163.

Mueller SM, Gehrig SM, Petersen JA, Frese S, Mihaylova V, Ligon-Auer M, Khmara N, Nuoffer JM, Schaller A, Lundby C et al: Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. Orphanet journal of rare diseases 2017, 12(1):184.

Jackson CB, Hahn D, Schroter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A: A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. European journal of medical genetics 2017, 60(6):345-351.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V et al: Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A 2017, 173(8):2108-2125.

Courage C, Jackson CB, Hahn D, Euro L, Nuoffer JM, Gallati S, Schaller A: SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. Am J Med Genet A 2017, 173(1):225-230.

Bolognini R, Gerth-Kahlert C, Abegg M, Bartholdi D, Mathis N, Sturm V, Gallati S, Schaller A: Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC medical genetics 2017, 18(1):22.