Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy

Por Magliyah, Moustafa S., Geuer, Sinje, Alsalamah, Abrar K., Lenzner, Steffen, Drasdo, Mojgan, Schatz, Patrik
Publicado no JAMA Ophthalmol (2021)

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects

Por Liedtke, Daniel, Orth, Melanie, Meissler, Michelle, Geuer, Sinje, Knaup, Sabine, Köblitz, Isabell, Klopocki, Eva
Publicado no Sci Rep (2019)

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Por Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan
Publicado no Eur J Hum Genet (2017)

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

Por Coman, David, Vissers, Lisenka E.L.M., Riley, Lisa G., Kwint, Michael P., Hauck, Roxanna, Koster, Janet, Geuer, Sinje, Hopkins, Sarah, Hallinan, Barbra, Sweetman, Larry, Engelke, Udo F.H., Burrow, T. Andrew, Cardinal, John, McGill, James, Inwood, Anita, Gurnsey, Christine, Waterham, Hans R., Christodoulou, John, Wevers, Ron A., Pitt, James
Publicado no Am J Hum Genet (2018)

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

Por Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E.A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.
Publicado no Am J Hum Genet (2017)

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Por Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.
Publicado no Am J Hum Genet (2020)