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Meng, Zenghui ; Kovacs, Boldizsar ; Yan, Chen ; Hölscher, Christina ; Zhazykbayeva, Saltanat ; Jarkas, Oliver ; Zou, Chendan ; Cyganek, Lukas ; Zorio, Esther ; Braza-Boils, Aitana ; Pablo Ochoa, Juan ; Rehbehn, Niels ; Fan, Xuehui ; Lei, Xinhao ; Liu, Rui ; Tong, Siyuan ; Liu, Feng ; Xue, Zongqian ; Bober, Sara L ; Zhao, Binyi ; Duru, Firat ; Aweimer, Assem ; Köppel, Alexandra ; Burau, Karin ; Mügge, Andreas ; Berger, Wolfgang ; Hamdani, Nazha ; Zhou, Xiaobo ; Saguner, Ardan M ; Akin, Ibrahim ; Gollob, Michael H ; El-Battrawy, Ibrahim (2026).
SLC4A3-related short QT syndrome assessed in human induced pluripotent stem cell-derived cardiomyocytes: mechanisms of ventricular arrhythmia and sudden cardiac death
PMID: 41780556, DOI: 10.1093/eurheartj/ehag068, S2CID: 286254374.
European Heart Journal, ehag068. 2026, March 5.

Shoman, Yara ; Leuenberger, Lorenz ; Sommer, Grit ; Bielicki, Julia Anna ; Brazzola, Pierluigi ; della Valle, Sophia ; Diezi, Manuel ; Drozdov, Daniel ; Gumy-Pause, Fabienne ; Guerreiro Stücklin, Anna ; Kuehnel, Ursula M ; Scheinemann, Katrin ; Schindera, Christina ; Schilling, Freimut ; Waespe, Nicolas ; Spycher, Ben D ; Schlapbach, Luregn J ; Kuehni, Claudia E ; Belle, Fabiën N ; SwissPedHealth Consortium (2026).
Contributors: Rauch, Anita
Improving Registration and Dataflows Between Pediatric Oncology Clinics and the Childhood Cancer Registry of Switzerland: Protocol for SwissPedCancer Quality Assurance Study
PMID: 41821202, PMCID: PMC12976597, DOI: 10.2196/87007, S2CID: 286500379.
JMIR Research Protocols 2026;15:e87007. 2026, March 3.

Serdiuk, Tetiana ; Redeker, Virginie ; Savistchenko, Jimmy ; Neupane, Sandesh ; Haenseler, Walther ; Fleischmann, Yanick ; Reber, Viviane ; Keller, Sabrina ; Tiberi, Cinzia ; Bachmann-Gagescu, Ruxandra ; Gstaiger, Matthias ; Braun, Thomas ; Riek, Roland ; Gentleman, Steve ; Aguzzi, Adriano ; de Souza, Natalie ; Melki, Ronald ; Picotti, Paola (2026).
Structure-function relationship of alpha-synuclein fibrillar polymorphs derived from distinct synucleinopathies
PMID: 41814068, DOI: 10.1038/s44320-026-00199-5, S2CID: 282306415.
Molecular Systems Biology. 2026, March 11. Epub ahead of print.

VanSickle, Elizabeth A. ; Sarasua, Sara M. ; Lowe, Tracy ; Farrell, Christopher L. ; Boccuto, Luigi ; Schwartz, Charles ; Pegg, Anthony E. ; Peron, Angela ; Faundes, Victor ; Ganapathi, Mythily ; Chung, Wendy K. ; Ziegler, Alban ; Hofstede, Floris ; Prouteau, Clément ; Steindl, Katharina ; Olson, Colleen ; Devinsky, Orrin ; Mastracci, Teresa L. ; Casero Jr., Robert A. ; Stewart, Tracy Murray ; Gilmour, Susan ; Koerner, Teri ; Kutler, Mary Jo ; Rajasekaran, Surender ; Michael, Julianne ; Bachmann, André S. ; Bupp, Caleb P. (2026).Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
PMID: 41410504, DOI: 10.1002/ajmga.70029, S2CID: 283932498.
American Journal of Medical Genetics. Part A, 200, 993–1003. 2026, May.

Wohlgemuth, Catherine Aurelia ; Gennari, Antonio Giulio ; Lo Biundo, Santo Pietro ; Boltshauser, Eugen ; Prader, Seraina ; Steindl, Katharina ; Rüegger, Andrea ; Ramantani, Georgia (2026).
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-Month-Old Girl: A Case Report
PMID: 41558656, DOI: 10.1055/a-2792-0936, S2CID: 284913872.
Neuropediatrics, 57, 156–159. 2026, April.

Williams, Katie M ; Berger, Wolfgang ; Koller, Samuel ; Pfiffner, Fatma Kivrak ; Maspoli, Alessandro ; Gloggnitzer, Jiradet ; Brühwiler, Britta V T ; Stathopoulos, Christina ; Munier, Francis ; Allen, Louise ; Iosifidis, Christos ; Black, Graeme C ; Sergouniotis, Panagiotis I ; Lloyd, Ian Christopher ; Gerth-Kahlert, Christina (2026).
The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease
PMID: 41243720, PMCID: PMC12958011, DOI: 10.1111/cge.70109, S2CID: 283069479.
Clinical Genetics, 109, 730–741. 2026, April.

Chacon-Millan, Pilar ; Delicato, Antonella ; Mahmood, Arif ; Tirozzi, Alfonsina ; Monfregola, Jlenia ; Duroure, Karine ; Serafini, Malo ; Kroll, François ; El-hage, Océane ; Salah, Somaya ; Atawneh, Osama M. ; Atik, Tahir ; Durmusalioglu, Enise Avcı ; Isik, Esra ; Almontashiri, Naif A.M. ; Tabarki, Brahim ; Kanaan, Moien ; Rabie, Grace ; Torella, Annalaura ; Spampanato, Carmine ; Battaglia, Domenica Immacolata ; Begemann, Anais ; Steindl, Katharina ; Rauch, Anita ; Zweier, Markus ; Hajianpour, Mj ; Brigatti, Karlla W. ;  Alhashem, Amal ; Maroofian, Reza ; Feigerlova, Eva ; Lambert, Laetitia ; Feillet, Francois ; Abbott, Mary-Alice ; D’Alessio, Alfonso Manuel ; Gonzaga-Jauregui, Claudia ; Tawk, Marcel ; De Matteis, Maria Antonietta ; Del Bene, Filippo ; Zollino, Marcella ; Nigro, Vincenzo ; Venditti, Rossella ; Franco, Brunella ; Morleo, Manuela (2026).
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
PMID: 41643666, DOI: 10.1016/j.ajhg.2026.01.008, S2CID: 285310294.
American Journal of Human Genetics, 113, 562–581. 2026, March.

Correa, Fernanda de Azevedo ; Habibi, Imen ; Zhai, Jing ; Adamo, Michela ; Wang, Yi ; Boizot, Alexia ; Zouaghi, Yassine ; Rauch, Anita ; Pekic, Sandra ; Quinton, Richard ; Bonomi, Marco ; Cangiano, Biagio ; Dhillo, Waljit S. ; Fluck, Christa E. ; Nemeth, Attila ; Bouloux, Pierre-Marc ; Ferrara, Jean-Marc ; Pignatelli, Duarte ; Halász, Zita ; Perdices-Lopez, Cecilia ; Messina, Andrea ; Niederländer, Nicolas J. ; Santoni, Federico ; Acierno, James S. ; Pitteloud, Nelly (2026).
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study
PMID: 41535479, DOI: 10.1038/s41431-025-02005-6, S2CID: 284737104.
European Journal of Human Genetics, 34, 340–347. 2026, March.

Müller, Franz ; Neuser, Sonja ; Shrestha, Gaurav ; Neupane, Netra P. ; Götze, Katharina J. ; Brunetti-Pierri, Nicola ; Terrone, Gaetano ; Reymond, Alexandre ; van Gassen, Koen L. ; Brilstra, Eva ; Steindl, Katharina ; Begemann, Anais ; Rauch, Anita ; Rips, Jonathan ; Fahham, Duha ; Barakat, Tahsin Stefan ; Patat, Olivier ; Mortreux, Jérémie ; Chau, Matthew Hoi Kin ; Rosenfeld, Jill A. ; Mizerik, Elizabeth ; Srivastava, Swati ; Luo, Xi ; Dahse, Anne-Kristin ; Scholz, Nicole ; Das, Joydip ; Roman, Gregg ; Langenhan, Tobias ; Abou Jamra, Rami ; Mrestani, Achmed ; Ljaschenko, Dmitrij (2026).
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila
PMID: 41399760, PMCID: PMC12702192, DOI: 10.1016/j.bbrep.2025.102375, S2CID: 283487753.
Biochemistry and Biophysics Reports, 45, 102375. 2026, March 1.

Portmann, Julia Maria ; Martini, Katharina ; Bahr, Angela ; Ritter, Alexander ; Wagner, Carsten A ; Seeger, Harald (2026).
A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the Gene Causing Hyperphosphatemic Tumoral Calcinosis
PMID: 41675205, DOI: 10.1016/j.xkme.2026.101241, S2CID: 284634664.
Kidney Medicine, 8, 101241. 2026, March.

Kuzmanova, Boyana ; Kuzmanova, Maria Radoslavova ; Elgizouli, Magdeldin ; Tatrai, Benjamin ; Möller, J Carsten (2026).
Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome
PMID: 41629112, DOI: 10.1136/bcr-2025-267762, S2CID: 285259452.
BMJ Case Reports, 19, e267762. 2026, February.

Uhrova Meszarosova, Anna ; Galiart, Elea ; Lassuthova, Petra ; Kolokotronis, Konstantinos ; Seidl, Benjamin ; Musilova, Alena ; Peckova, Anna ; Takacsova, Alena ; Vyhnalkova, Emilie ; Grecmalova, Dagmar ; Vlckova, Eva ; Skutilova, Vladana ; Steindl, Katharina ; Rauch, Anita ; Stettner, Georg M. ; Safka Brozkova, Dana (2026).
Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality
PMID: 41585230, PMCID: PMC12823886, DOI: 10.3389/fmed.2025.1704209, S2CID: 284632139.
Frontiers in Medicine, 12, 1704209. 2026, January 8.

Anderson, Eric N. ; Drukewitz, Stephan ; Kour, Sukhleen ; Chimata, Anuradha V. ; Rajan, Deepa S. ; Schönnagel, Senta ; Stals, Karen L. ; Donnelly, Deirdre ; O'Sullivan, Siobhan ; Mantovani, John F. ; Tan, Tiong Y. ; Stark, Zornitza ; Zacher, Pia ; Chatron, Nicolas ; Monin, Pauline ; Drunat, Severine ; Vial, Yoann ; Latypova, Xenia ; Levy, Jonathan ; Verloes, Alain ; Carter, Jennefer N. ; Bonner, Devon E. ; Shankar, Suma P. ; Bernstein, Jonathan A. ; Cohen, Julie S. ; Comi, Anne ; Carere, Deanna Alexis ; Dyer, Lisa M. ; Mullegama, Sureni V. ; Sanchez-Lara, Pedro A. ; Grand, Katheryn ; Kim, Hyung-Goo ; Ben-Mahmoud, Afif ; Gospe, Sidney M. ; Belles, Rebecca S. ; Bellus, Gary ; Lichtenbelt, Klaske D. ; Oegema, Renske ; Rauch, Anita ; Ivanovski, Ivan ; Mau-Them, Frederic Tran ; Garde, Aurore ; Rabin, Rachel ; Pappas, John ; Bley, Annette E. ; Bredow, Janna ; Wagner, Timo ; Decker, Eva ; Bergmann, Carsten ; Domenach, Louis ; Margot, Henri ; Lemke, Johannes R. ; Abou Jamra, Rami ; Hentschel, Julia ; Mefford, Heather ; Singh, Amit ; Pandey, Udai Bhan ; Platzer, Konrad (2026).
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
PMID: 41468891, DOI: 10.1016/j.ajhg.2025.12.004, S2CID: 277492716.
American Journal of Human Genetics, 113(1), 100–116. 2026, January 8.

Zhang, Gang ; Lu, Yaping ; Xie, Lingling ; Begemann, Anais ; Papuc, Sorina M. ; Zweier, Markus ; Steindl, Katharina ; Rauch, Anita ; Mayr, Johannes Adalbert ; Koch, Johannes ; Feichtinger, René Günther ; Elmslie, Frances ; Kulosik, Luise ; Abou Jamra, Rami ; Harmsen, Stefani ; Wang, Shangyu ; He, Mingying ; Zhang, Luyan ; Zhou, Wei ; Wang, Chunli ; Liu, Xiuxiu ; Zhang, Aihua ; Zheng, Bixia (2026).
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies
PMID: 41133935, DOI: 10.1111/epi.18661, S2CID: 282322781.
Epilepsia, 67, 480–498. 2026, January.