Human mutations in integrator complex subunits link transcriptome integrity to brain development
Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M, Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A Jeannette M, Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H, van Slegtenhorst, Marjon, Dobyns, William B, de Coo, Irenaeus F M, Verheijen, Frans W, Kremer, Andreas, van der Spek, Peter J, Heijsman, Daphne, Wagner, Eric J, Fornerod, Maarten, Mancini, Grazia M S
Published in PLoS genetics (25.05.2017)
Published in PLoS genetics (25.05.2017)
Get full text
Journal Article
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development
Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M, Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A Jeannette M, Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H, van Slegtenhorst, Marjon, Dobyns, William B, de Coo, Irenaeus F M, van den Berg, Debbie, Verheijen, Frans W, Kremer, Andreas, van der Spek, Peter J, Heijsman, Daphne, Wagner, Eric J, Fornerod, Maarten, Mancini, Grazia M S
Published in PLoS genetics (01.08.2017)
Published in PLoS genetics (01.08.2017)
Get full text
Journal Article
Novel no-stop FLNA mutation causes multi-organ involvement in males
Oegema, Renske, Hulst, Jessie M., Theuns-Valks, Sabine D.M., van Unen, Leontine M.A., Schot, Rachel, Mancini, Grazia M.S., Schipper, Marguerite E.I., de Wit, Marie C.Y., Sibbles, Barbara J., de Coo, Irenaeus F.M., Nanninga, Veerle, Hofstra, Robert M.W., Halley, Dicky J.J., Brooks, Alice S.
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
Get full text
Journal Article
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
Vandervore, Laura V, Schot, Rachel, Kasteleijn, Esmee, Oegema, Renske, Stouffs, Katrien, Gheldof, Alexander, Grochowska, Martyna M, van der Sterre, Marianne L T, van Unen, Leontine M A, Wilke, Martina, Elfferich, Peter, van der Spek, Peter J, Heijsman, Daphne, Grandone, Anna, Demmers, Jeroen A A, Dekkers, Dick H W, Slotman, Johan A, Kremers, Gert-Jan, Schaaf, Gerben J, Masius, Roy G, van Essen, Anton J, Rump, Patrick, van Haeringen, Arie, Peeters, Els, Altunoglu, Umut, Kalayci, Tugba, Poot, Raymond A, Dobyns, William B, Bahi-Buisson, Nadia, Verheijen, Frans W, Jansen, Anna C, Mancini, Grazia M S
Published in Brain (London, England : 1878) (01.04.2019)
Published in Brain (London, England : 1878) (01.04.2019)
Get full text
Journal Article
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.
Published in American journal of human genetics (02.02.2023)
Published in American journal of human genetics (02.02.2023)
Get full text
Journal Article
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
Vandervore, Laura V., Schot, Rachel, Hoogeboom, A. Jeannette M., Lincke, Carsten, de Coo, Irenaeus F., Lequin, Maarten H., Dremmen, Marjolein, van Unen, Leontine M.A., Saris, Jasper J., Jansen, Anna C., van Slegtenhorst, Marjon A., Wilke, Martina, Mancini, Grazia M.S.
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
Get full text
Journal Article
T-cell responses to outer membrane proteins of Neisseria meningitidis: comparative study of the Opa, Opc, and PorA proteins
WIERTZ, E. J. H. J, DELVIG, A, DONDERS, E. M. L. M, BRUGGHE, H. F, VAN UNEN, L. M. A, TIMMERMANS, H. A. M, ACHTMAN, M, HOOGERHOUT, P, POOLMAN, J. T
Published in Infection and Immunity (01.01.1996)
Published in Infection and Immunity (01.01.1996)
Get full text
Journal Article
Conjugates of synthetic cyclic peptides elicit bactericidal antibodies against a conformational epitope on a class 1 outer membrane protein of Neisseria meningitidis
HOOGERHOUT, P, DONDERS, E. M. L. M, WIERTZ, E. J. H. J, POOLMAN, J. T, VAN GAANS-VAN DEN BRINK, J. A. M, KUIPERS, B, BRUGGHE, H. F, VAN UNEN, L. M. A, TIMMERMANS, H. A. M, TEN HOVE, J. J, DE JONG, P. J. M, PEETERS, C. C. A. M
Published in Infection and Immunity (01.09.1995)
Published in Infection and Immunity (01.09.1995)
Get full text
Journal Article
Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
Verhagen, Judith M A, van den Born, Myrthe, van der Linde, Herma C, G J Nikkels, Peter, Verdijk, Rob M, Kivlen, Maryann H, van Unen, Leontine M A, Baas, Annette F, Ter Heide, Henriette, van Osch-Gevers, Lennie, Hoogeveen-Westerveld, Marianne, Herkert, Johanna C, Bertoli-Avella, Aida M, van Slegtenhorst, Marjon A, Wessels, Marja W, Verheijen, Frans W, Hassel, David, Hofstra, Robert M W, Hegde, Ramanujan S, van Hasselt, Peter M, van Ham, Tjakko J, van de Laar, Ingrid M B H
Published in Circulation. Genomic and precision medicine (01.09.2019)
Published in Circulation. Genomic and precision medicine (01.09.2019)
Get more information
Journal Article
Thermodynamic Analysis of the Interaction between a Bactericidal Antibody and a PorA Epitope of Neisseria meningitidis
van den Elsen, Jean M. H, van Unen, Leontine M. A, van Bloois, Louis, Busquets, M. Antonia, Jiskoot, Wim, Hoogerhout, Peter, Wilting, Jaap, Herron, James N, Crommelin, Daan J. A
Published in Biochemistry (Easton) (14.10.1997)
Published in Biochemistry (Easton) (14.10.1997)
Get full text
Journal Article
SIMULTANEOUS MULTIPLE SYNTHESIS AND SELECTIVE CONJUGATION OF CYCLIZED PEPTIDES DERIVED FROM A SURFACE LOOP OF A MENINGOCOCCAL CLASS-1 OUTER-MEMBRANE PROTEIN
BRUGGHE, HF, TIMMERMANS, HAM, VANUNEN, LMA, TENHOVE, GJ, VANDEWERKEN, G, POOLMAN, JT, HOOGERHOUT, P
Published in International journal of peptide and protein research (01.02.1994)
Published in International journal of peptide and protein research (01.02.1994)
Get more information
Journal Article
Particle size of bone graft and method of impaction affect initial stability of cemented cups: Human cadaveric and synthetic pelvic specimen studies
BOLDER, Stefan B. T, SCHREURS, B. Willem, VERDONSCHOT, Nico, VAN UNEN, Jacco M. J, GARDENIERS, Jean W. M, SLOOFF, Tom J. J. H
Published in Acta orthopaedica Scandinavica (01.12.2003)
Published in Acta orthopaedica Scandinavica (01.12.2003)
Get full text
Journal Article
Epitope specificity of murine and human bactericidal antibodies against PorA P1.7,16 induced with experimental meningococcal group B vaccines
Rouppe van der Voort, Eileene M., Kuipers, Betsy, Brugghe, Humphrey F., Unen, Leontine M.A., Timmermans, Hans A.M., Hoogerhout, Peter, Poolman, Jan T.
Published in FEMS immunology and medical microbiology (01.03.1997)
Published in FEMS immunology and medical microbiology (01.03.1997)
Get full text
Journal Article
Abstract 12239: Biallelic Variants in ASNA1 Cause Rapidly Progressive Pediatric Cardiomyopathy
Verhagen, Judith M, van den Born, Myrthe, van der Linde, Herma C, Nikkels, Peter G, Verdijk, Rob M, van Unen, Leontine M, Baas, Annette F, ter Heide, Henriette, van Osch-Gevers, Lennie, Hoogeveen-Westerveld, Marianne, Herkert, Johanna C, van Slegtenhorst, Marjon A, Wessels, Marja W, Verheijen, Frans W, Hassel, David M, Hofstra, Robert M, Hegde, Ramanujan S, van Ham, Tjakko J, van Hasselt, Peter M, van de Laar, Ingrid M
Published in Circulation (New York, N.Y.) (06.11.2018)
Get full text
Published in Circulation (New York, N.Y.) (06.11.2018)
Journal Article
Particle size of bone graft and method of impaction affect initial stability of cemented cupsHuman cadaveric and synthetic pelvic specimen studies
Bolder, Stefan, Schreurs, B Willem, Verdonschot, Nico, M J van Unen, Jacco, Gardeniers, Jean, Slooff, Tom
Published in Acta orthopaedica (2003)
Published in Acta orthopaedica (2003)
Get full text
Journal Article