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Journal Article
Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina 
ORCID: 0000-0001-6066-507X, Geyer, Matthias ORCID: 0000-0002-7718-5002, Basmanav, Fitnat Buket and Betz, Regina C.
(2021).
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Am. J. Med. Genet. A, 185 (12).
S. 3900 - 3905.
HOBOKEN:
WILEY.
ISSN 1552-4833
Hochheiser, Inga, V, Behrmann, Heide, Hagelueken, Gregor ORCID: 0000-0001-8781-5664, Rodriguez-Alcazar, Juan F., Kopp, Anja ORCID: 0000-0001-5484-7109, Latz, Eicke, Behrmann, Elmar ORCID: 0000-0001-6794-3669 and Geyer, Matthias ORCID: 0000-0002-7718-5002
(2022).
Directionality of PYD filament growth determined by the transition of NLRP3 nucleation seeds to ASC elongation.
Sci. Adv., 8 (19).
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 2375-2548
Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander ORCID: 0000-0002-2131-4581, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Ellwanger, Juergen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Luetjohann, Dieter, Frank, Jorge, Geyer, Matthias ORCID: 0000-0002-7718-5002, Bertolini, Marta ORCID: 0000-0002-5927-6998, Kokordelis, Pavlos and Betz, Regina C.
(2018).
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Am. J. Hum. Genet., 103 (5).
S. 777 - 786.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Steiner, Annemarie, Reygaerts, Thomas, Pontillo, Alessandra, Ceccherini, Isabella, Moecking, Jonas, Moghaddas, Fiona, Davidson, Sophia, Caroli, Francesco ORCID: 0000-0003-1828-6900, Grossi, Alice, Morato Castro, Fabio Fernandes, Kalil, Jorge, Gohr, Florian N., Schmidt, Florian, I, Bartok, Eva ORCID: 0000-0003-0556-1950, Zillinger, Thomas, Hartmann, Gunther, Geyer, Matthias, Gattorno, Marco, Mendonca, Leonardo Oliveira and Masters, Seth L.
(2022).
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.
J. Clin. Immunol., 42 (2).
S. 325 - 336.
NEW YORK:
SPRINGER/PLENUM PUBLISHERS.
ISSN 1573-2592
Woeste, Marina A., Stern, Sina, Raju, Diana N., Grahn, Elena, Dittmann, Dominik, Gutbrod, Katharina, Doermann, Peter, Hansen, Jan N., Schonauer, Sophie, Marx, Carina E., Hamzeh, Hussein, Koerschen, Heinz G., Aerts, Johannes M. F. G., Boenigk, Wolfgang, Endepols, Heike ORCID: 0000-0002-6166-4818, Sandhoff, Roger, Geyer, Matthias ORCID: 0000-0002-7718-5002, Berger, Thomas K., Bradke, Frank ORCID: 0000-0002-0345-3772 and Wachten, Dagmar
(2019).
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.
J. Biol. Chem., 294 (11).
S. 3853 - 3872.
ROCKVILLE:
AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC.
ISSN 1083-351X