2026
Giannikopoulos P, Lauffer MC, Marshall CR, Costain G, Niu Z, Bick D, Shen W, Hiemenz MC, Bhatt S, Grody W, Jobanputra V; Medical Genome Initiative.
Interventional Genomics: Bridging Germline Diagnosis and Therapeutic Action. Genet Med. 2026.
Cheerie D, Lauffer MC, Newton L, Amburgey K, Beijer D, Haque B, Kalish BT, Meserve MM, Oh RY, Pan AY, Reuter MS, Szego MJ, Szuto A; N=1 Collaborative; Aartsma-Rus A, Axford MM, Deshwar AR, Dowling JJ, Marshall CR, Ivakine Z, Synofzik M, Yu TW, Costain G.
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study. Genet Med. 2026.
2025
He M, Ding M, Chocholouskova M, Chin CF, Engvall M, Malmgren H, Wagner M, Lauffer MC, Heisinger J, Malicdan MCV, Allamand V, Durbeej M, Delgado Vega A, Sejersen T, Nordgren A, Torta F, Silver DL.
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis. J Clin Invest. 2025.
Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC; N=1 Collaborative.
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025.
Belgrad J, McConnell E, Leonard S, Nolen N, Lauffer MC, Watts JK, Yu T, Yan WX, Aartsma-Rus A.
The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing. Nucleic Acids Res. 2025.
2024
Aartsma-Rus A, Collin RWJ, Elgersma Y, Lauffer MC, van Roon-Mom W.
Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics. Ther Adv Rare Dis. 2024.
Zardetto B, van Roon-Mom W, Aartsma-Rus A, Lauffer MC.
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments. Hum Mutat. 2024.
Zardetto B, Lauffer MC, van Roon-Mom W, Aartsma-Rus A, On Behalf Of The N Collaborative.
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments. Hum Mutat. 2024.
Lauffer MC, van Roon-Mom W, Aartsma-Rus A; N = 1 Collaborative.
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders. Commun Med (Lond). 2024.
2023
Aartsma-Rus A, van Roon-Mom W, Lauffer M, Siezen C, Duijndam B, Coenen-de Roo T, Schüle R, Synofzik M, Graessner H.
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA. 2023.
2021
Lauffer MC.
Organ-on-a-chip technologies to study neuromuscular disorders: possibilities, limitations, and future hopes. Med Genet. 2021.
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Sandra Donkervoort, Natalia Dominik, Marlen Lauffer, Matteo P Ferla, Andrea Orioli, Adam Giess, Arianna Tucci, Christian Beetz, Maryam Sedghi, Behnaz Ansari, Rita Barresi, Keivan Basiri, Andrea Cortese, Greg Elgar, Miguel A Fernandez-Garcia, Janice Yip, A Reghan Foley, Nicholas Gutowski, Heinz Jungbluth, Saskia Lassche, Tim Lavin, Carlo Marcelis, Peter Marks, Chiara Marini-Bettolo, Livija Medne, Ali-Reza Moslemi, Anna Sarkozy, Mary M Reilly, Francesco Muntoni, Francisca Millan, Colleen C Muraresku, Anna C Need, Andrea H Nemeth, Sarah B Neuhaus, Fiona Norwood, Marie O'Donnell, Mary O'Driscoll, Julia Rankin, Sabrina W Yum, Zarazuela Zolkipli-Cunningham, Isabell Brusius, Gilbert Wunderlich; Genomics England Research Consortium; Mert Karakaya, Brunhilde Wirth, Khalid A Fakhro, Homa Tajsharghi, Carsten G Bönnemann, Jenny C Taylor, Henry Houlden.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. 2021.
2020
Schoof M, Hellwig M, Harrison L, Holdhof D, Lauffer MC, Niesen J, Virdi S, Indenbirken D, Schüller U.
The basic helix-loop-helix transcription factor TCF4 impacts brain architecture as well as neuronal morphology and differentiation. Eur J Neurosci. 2020.
2019
Hellwig M, Lauffer MC, Bockmayr M, Spohn M, Merk DJ, Harrison L, Ahlfeld J, Kitowski A, Neumann JE, Ohli J, Holdhof D, Niesen J, Schoof M, Kool M, Kraus C, Zweier C, Holmberg D, Schüller U.
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma. Acta Neuropathol. 2019.