Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C: Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. European journal of medical genetics 2021, 64(1):104123.

Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S et al: Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine: official journal of the American College of Medical Genetics 2021, 41436-021-01119-81.


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: official journal of the American College of Medical Genetics 2020, 22(11):1759-1767.


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. The American journal of cardiology 2019, 123(12):2031-2038.


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 : official journal of the American College of Medical Genetics 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: official journal of the Movement Disorder Society 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: official journal of the German Cardiac Society 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. American journal of respiratory and critical care medicine 2018, 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 : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 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.


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.