2023
Schlichtner, Stephanie; Yasinska, Inna M; Lall, Gurprit S; Berger, Steffen M; Ruggiero, Sabrina; Cholewa, Dietmar; Aliu, Nijas; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2023). T lymphocytes induce human cancer cells derived from solid malignant tumors to secrete galectin-9 which facilitates immunosuppression in cooperation with other immune checkpoint proteins. Journal for immunotherapy of cancer, 11(1) BioMed Central
Sheppard, S. E., Bryant, L. M., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., De La Cruz, X.,Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Da Silva, R. P., Li, D., . . . Tan, T. Y. (2023). Mechanism of KM Science Advances, 9(10).
Schmid, C. M., Gregor, A., Costain, G., Morel, C. F., Massingham, L., Schwab, J., Quélin, C., Faoucher, M., Kaplan, J., Procopio, R., Saunders, C. J., Cohen, A. S. A., Lemire, G., Sacharow, S., O’Donnell-Luria, A., Segal, R. J., Shamshoni, J. K., Schweitzer, D., Ebrahimi-Fakhari, D., . . . Zweier, C. (2023). LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in Medicine, 25(7), 100839.
Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kortüm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K., . . . Zweier, C. (2023). Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genetics in Medicine, 100885.
Rieder, M., Zweier, C., & Odening, K. E. (2023). Novel Insights Into the Prevalence of TNNI3K -Mediated Dilated Cardiomyopathy and Putative Disease Mechanisms. Circulation.
Di Lazzaro Filho, R., Yamamoto, G. L., Silva, T. J., Rocha, L. A., Linnenkamp, B. D. W., Castro, M. a. A., Bartholdi, D., Schaller, A., Leeb, T., Kelmann, S., Utagawa, C. Y., Steiner, C. E., Steinmetz, L., Honjo, R. S., Kim, C. A., Wang, L., Abourjaili-Bilodeau, R., Campeau, P. M., Warman, M. L., . . . Bertola, D. R. (2023). Biallelic variants inDNA2cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics, jmg-109119.
Kim, J. J., Vitale, D., Otani, D. V., Lian, M. M., Heilbron, K., Aslibekyan, S., Auton, A., Babalola, E., Bell, R. K., Bielenberg, J., Bryc, K., Bullis, E., Cannon, P. J., Coker, D., Partida, G. C., Dhamija, D., S, D., Elson, S. L., Eriksson, N., . . . Mata, I. F. (2023b). Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease. Nature Genetics
Ferrario, A., Aliu, N., Rieubland, C., Vuilleumier, S., Grabe, H., & Escher, P. (2023b). Expanding Genotype/Phenotype correlation in 2P11.2-P12 microdeletion syndrome. Genes, 14(12), 2222.
Andreoti, T. A., Tuleja, A., Döring, Y., Maiolo, M., Schaller, A., Vassella, E., Zweier, C., Boon, L. M., Vikkula, M., Rößler, J., Bernhard, S., & Baumgartner, I. (2023). Parkes Weber Syndrome: Contribution of the genotype to the diagnosis. Journal of Vascular Anomalies, 4(4), e076.
Meyer, C., Hertig, D., Arnold, J., Urzì, C., Kurth, S., Mayr, J. A., Schaller, A., Vermathen, P., & Nuoffer, J. (2023b). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1H HR‐MAS NMR. Journal of Inherited Metabolic Disease.
Altay, M. F., Kumar, S. T., Burtscher, J., Jagannath, S., Strand, C., Miki, Y., Parkkinen, L., Holton, J. L., & Lashuel, H. A. (2023b). Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases. Npj Parkinson’s Disease, 9(1).
Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J., Ge, Y., Zhao, D., Bonde, K., Madsen, L. G., Awad, I. A., Bagiran, D., Sbeih, A., Shah, S. V., Elsayed, S. M., Lyngby, S. M., Pedersen, M. T., Stenum-Berg, C., Walker, L. A., Krey, I., Delahaye‐Duriez, A., . . . Kristensen, A. S. (2023b). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain.
Ramosaj, A., Singhal, P., Schaller, A., & Laemmle, A. (2023b). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular Genetics and Metabolism Reports, 37, 101007.
Lenz, D., Schlieben, L. D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Berutti, R., Adam, R., Aldrian, D., Barić, I., Baumann, U., Bozbulut, N. E., Brugger, M., Brunet, T., Bufler, P., Burnytė, B., Calvo, P. L., Crushell, E., Dalgıç, B., . . . Prokisch, H. (2023b). Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology.
Beaman, M. M., Guidugli, L., Hammer, M., Barrows, C., Gregor, A., Lee, S., Deak, K., McDonald, M., Jensen, C. D., Zaki, M. S., Masri, A., Hobbs, C. A., Gleeson, J. G., & Cohen, J. L. (2023b). Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American Journal of Medical Genetics - Part A, 191(11), 2757–2767.
Kesim, Y., Ceroni, F., Damián, A., Blanco‐Kelly, F., Ayuso, C., Williamson, K., Paquis‐Flucklinger, V., Bax, D. A., Plaisancié, J., Rieubland, C., Chamlal, M., Cortón, M., Chassaing, N., Calvas, P., & Ragge, N. (2023b). Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European Journal of Human Genetics, 31(10), 1175–1180.
Kesim, Y., Ceroni, F., Damián, A., Blanco‐Kelly, F., Ayuso, C., Williamson, K., Paquis‐Flucklinger, V., Bax, D. A., Plaisancié, J., Rieubland, C., Chamlal, M., Cortón, M., Chassaing, N., Calvas, P., & Ragge, N. (2023d). Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European Journal of Human Genetics, 31(10), 1196–1198.
Lange, L. M., Avenali, M., Ellis, M., Illarionova, A., Sarmiento, I. J. K., Tan, A. H., Madoev, H., Galandra, C., Junker, J., Roopnarain, K., Solle, J., Wegel, C. E., Fang, Z., Heutink, P., Kumar, K. R., Lim, S., Valente, E. M., Nalls, M. A., Blauwendraat, C., . . . Atadzhanov, M. (2023c). Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2). Npj Parkinson’s Disease, 9(1).
Towns, C., Richer, M., Jasaityte, S., Stafford, E. J., Joubert, J., Antar, T., Martínez-Carrasco, A., Makarious, M. B., Casey, B., Vitale, D., Levine, K., Leonard, H., Pantazis, C. B., Screven, L. A., Hernandez, D. G., Wegel, C. E., Solle, J., Nalls, M. A., Blauwendraat, C., . . . Atadzhanov, M. (2023b). Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2). Npj Parkinson’s Disease, 9(1).
Szakszon, K., Lourenço, C. M., Callewaert, B., Geneviève, D., Rouxel, F., Morin, D., Denommé‐Pichon, A., Vitobello, A., Patterson, W. G., Louie, R. J., Vairo, F. P. E., Klee, E. W., Kaiwar, C., Gavrilova, R. H., Agre, K., Jacquemont, S., Khadijé, J., Giltay, J. C., Van Gassen, K., . . . Stevens, S. J. (2023c). Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations. Journal of Medical Genetics, jmg-109030.
Saffari, A., Lau, T., Tajsharghi, H., Karimiani, E. G., Kariminejad, A., Efthymiou, S., Zifarelli, G., Sultan, T., Toosi, M. B., Sedighzadeh, S., Siu, V. M., Ortigoza‐Escobar, J. D., Al‐Shamsi, A. M., Ibrahim, S., Al‐Sannaa, N., Al-Hertani, W., Whalen, S., Tarnopolsky, M. A., Alavi, S., . . . Maroofian, R. (2023b). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146(8), 3273–3288.
Grassi, M., Laubscher, B., Pandey, A. V., Tschumi, S., Graber, F., Schaller, A., Janner, M., Aeberli, D., Hewer, E., Nuoffer, J., & Gautschi, M. (2023). Expanding the P.(ARG85TRP) Variant-Specific phenotype of HNF4A: features of glycogen storage disease, liver cirrhosis, impaired mitochondrial function, and glomerular changes. Molecular Syndromology, 14(4), 347–362.
Montanucci, L., Lewis-Smith, D., Collins, R. L., Niestroj, L., Parthasarathy, S., Xian, J., Ganesan, S., Macnee, M., Brünger, T., Thomas, R. H., Talkowski, M. E., Motelow, J. E., Povysil, G., Dhindsa, R. S., Stanley, K. E., Allen, A., Goldstein, D. B., Feng, Y. A., Howrigan, D. P., . . . Lal, D. (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1).
Gracia-Diaz, C., Zhou, Y., Yang, Q., Maroofian, R., Espana-Bonilla, P., Lee, C., Zhang, S., Padilla, N., Fueyo, R., Waxman, E. A., Lei, S., Otrimski, G., Li, D., Sheppard, S. E., Mark, P. R., Harr, M., Hákonarson, H., Rodan, L. H., Jackson, A., . . . Akizu, N. (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1).
Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory
Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2023). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. (Im Druck). Parkinsonism & related disorders, S. 105460. Elsevier
Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; ... (2023). In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Journal of medical genetics, 60(6), S. 597-607. BMJ Publishing Group
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation
Hundsberger, Felix; Escher, Pascal; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2023). Der Wert eines kombinierten ophthalmogenetischen Ansatzes zur Unterscheidung einer vermuteten Refsum-Krankheit bei einem mutmaßlichen Fall von „isolierter“ Retinitis pigmentosa. Klinische Monatsblätter für Augenheilkunde, 240(4), S. 549-552. Thieme
Sanlialp, Ayse; Escher, Pascal; Schaller, André; Todorova, Margarita (2023). Klinische Heterogenität bei 2 Geschwistern mit einer heterozygoten pathogenen PRPH2-Variante. Klinische Monatsblätter für Augenheilkunde, 240(4), S. 536-543. Thieme
Barben, Jürg; Pedersen, Eva S. L.; Berger, Daria; Rueegg, Corina S.; Sanz, Javier; Sluka, Susanna; Baumgartner, Matthias; Kuehni, Claudia E. (2023). Zehn Jahre Neugeborenen-Screening auf zystische Fibrose in der Schweiz. Swiss medical forum, 23(5), S. 871-874. EMH Schweizerischer Ärzteverlag AG
2022
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), S. 4232-4245. Oxford University Press 10.1093/brain/awac049
Popp, Bernt; Bienvenu, Thierry; Giurgea, Irina; Metreau, Julia; Kraus, Cornelia; Reis, André; Fischer, Jan; Bralo, María Palomares; Castano, Jair Tenorio; Lapunzina, Pablo; Almoguera, Berta; Lopez-Grondona, Fermina; Sticht, Heinrich; Zweier, Christiane (2022). The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clinical genetics, 102(6), S. 517-523. Wiley 10.1111/cge.14206
Locher, Maurus; Jukic, Emina; Vogi, Verena; Keller, Markus A; Kröll, Teresa; Schwendinger, Simon; Oberhuber, Klaus; Verdorfer, Irmgard; Mühlegger, Beatrix E; Witsch-Baumgartner, Martina; Nachbaur, David; Willenbacher, Wolfgang; Gunsilius, Eberhard; Wolf, Dominik; Zschocke, Johannes; Steiner, Normann (2022). Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma. (Im Druck). European journal of haematology Wiley 10.1111/ejh.13905
Agbariah, Nada; Sanz, Javier; Rovó, Alicia (2022). “A Dangerous Black Box:” Idiopathic Hemophagocytic Lymphohistiocytosis in Adult Patients—A Case Report and Review of the Literature. Case reports in hematology, 2022, S. 1-8. Hindawi 10.1155/2022/5867129
Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; ... (2022). In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. (Im Druck). Journal of medical genetics BMJ Publishing Group 10.1136/jmg-2022-108734
Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), S. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961
Strehlow, Vincent; Rieubland, Claudine; Gallati, Sabrina; Kim, Sukhan; Myers, Scott J; Peterson, Vincent; Ramsey, Amy J; Teuscher, Daniel D; Traynelis, Stephen F; Lemke, Johannes R (2022). Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia, 63(10), e132-e137. Wiley-Blackwell 10.1111/epi.17394
Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin-Reina, Purificacion; Mark, Paul R; Martinez-Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical genetics, 102(3), S. 182-190. Wiley 10.1111/cge.14173
Rieder, Marina; Kreifels, Paul; Stuplich, Judith; Ziupa, David; Servatius, Helge; Nicolai, Luisa; Castiglione, Alessandro; Zweier, Christiane; Asatryan, Babken; Odening, Katja E (2022). Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine, 9, S. 916036. Frontiers 10.3389/fcvm.2022.916036
Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M; Semina, Elena V; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; ... (2022). SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in medicine, 24(6), S. 1261-1273. Elsevier 10.1016/j.gim.2022.02.013
Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry (2022). Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. Annals of Clinical and Translational Neurology, 9(6), S. 888-892. Wiley 10.1002/acn3.51556
Liang, Lina; Liu, Huihui; Bartholdi, Deborah; van Haeringen, Arie; Fernandez-Jaén, Alberto; Peeters, Els E A; Xiong, Hongbo; Bai, Xuemei; Xu, Chengqi; Ke, Tie; Wang, Qing K (2022). Identification and Functional Analysis of Two New De Novo KCNMA1 Variants Associated with Liang-Wang syndrome. Acta physiologica, 235(1), e13800. Wiley 10.1111/apha.13800
Broser, Philip; von Mengershausen, Ursula; Heldt, Katrin; Bartholdi, Deborah; Braun, Dominique; Wolf, Christine; Lee-Kirsch, Min Ae (2022). Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report. Pediatric rheumatology, 20(1), S. 24. BioMed Central 10.1186/s12969-022-00686-7
Ruaud, Lyse; Drunat, Séverine; Elmaleh-Bergès, Monique; Ernault, Anais; Guilmin Crepon, Sophie; The MCPH, Consortium; El Ghouzzi, Vincent; Auvin, Stéphane; Verloes, Alain; Passemard, Sandrine (2022). Neurological outcome in WDR62 primary microcephaly. Developmental medicine and child neurology, 64(4), S. 509-517. Wiley 10.1111/dmcn.15060
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2021
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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.