Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development
Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris
Published in Cell (03.10.2008)
Published in Cell (03.10.2008)
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects
Joustra, Sjoerd D., Kamp, Gerdine A., Stalman, Susanne E., Donze, Stephany H., Losekoot, Monique, Kant, Sarina G., de Bruin, Christiaan, Oostdijk, Wilma, Wit, Jan M.
Published in Hormone research in paediatrics (01.06.2020)
Published in Hormone research in paediatrics (01.06.2020)
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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
Menke, Leonie A., van Belzen, Martine J., Alders, Marielle, Cristofoli, Francesca, Ehmke, Nadja, Fergelot, Patricia, Foster, Alison, Gerkes, Erica H., Hoffer, Mariëtte J. V., Horn, Denise, Kant, Sarina G., Lacombe, Didier, Leon, Eyby, Maas, Saskia M., Melis, Daniela, Muto, Valentina, Park, Soo-Mi, Peeters, Hilde, Peters, Dorien J. M., Pfundt, Rolph, van Ravenswaaij-Arts, Conny M. A., Tartaglia, Marco, Hennekam, Raoul C. M.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Journal Article
A novel variant of FGFR3 causes proportionate short stature
Kant, Sarina G, Cervenkova, Iveta, Balek, Lukas, Trantirek, Lukas, Santen, Gijs W E, de Vries, Martine C, van Duyvenvoorde, Hermine A, van der Wielen, Michiel J R, Verkerk, Annemieke J M H, Uitterlinden, André G, Hannema, Sabine E, Wit, Jan M, Oostdijk, Wilma, Krejci, Pavel, Losekoot, Monique
Published in European journal of endocrinology (01.06.2015)
Published in European journal of endocrinology (01.06.2015)
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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Journal Article
Causes of permanent childhood hearing impairment
Korver, Anna M H, Admiraal, Ronald J C, Kant, Sarina G, Dekker, Friedo W, Wever, Capi C, Kunst, Henricus P M, Frijns, Johan H M, Oudesluys-Murphy, Anne Marie
Published in The Laryngoscope (01.02.2011)
Published in The Laryngoscope (01.02.2011)
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Journal Article
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome
de Graaf, Michael, Kant, Sarina G, Wit, Jan Maarten, Willem Redeker, Egbert Johan, Eduard Santen, Gijs Willem, Henriëtta Verkerk, Annemieke Johanna Maria, Uitterlinden, André Gerardus, Losekoot, Monique, Oostdijk, Wilma
Published in Journal of clinical research in pediatric endocrinology (01.12.2017)
Published in Journal of clinical research in pediatric endocrinology (01.12.2017)
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Journal Article
The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis
Kant, Sarina G, van der Kamp, Hetty J, Kriek, Marjolein, Bakker, Egbert, Bakker, Boudewijn, Hoffer, Mariette J. V, van Bunderen, Patrick, Losekoot, Monique, Maas, Saskia M, Wit, Jan M, Rappold, Gudrun, Breuning, Martijn H
Published in The journal of clinical endocrinology and metabolism (01.02.2011)
Published in The journal of clinical endocrinology and metabolism (01.02.2011)
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Journal Article
Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician
Billar, Ryan J., Manoubi, Wiem, Kant, Sarina G., Wijnen, René M.H., Demirdas, Serwet, Schnater, Johannes M.
Published in Journal of pediatric surgery (01.12.2021)
Published in Journal of pediatric surgery (01.12.2021)
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Journal Article
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor
Walenkamp, Marie J E, Robers, Jasmijn M L, Wit, Jan M, Zandwijken, Gladys R J, van Duyvenvoorde, Hermine A, Oostdijk, Wilma, Hokken-Koelega, Anita C S, Kant, Sarina G, Losekoot, Monique
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
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Identification of a robust DNA methylation signature for Fanconi anemia
Pagliara, Daria, Ciolfi, Andrea, Pedace, Lucia, Haghshenas, Sadegheh, Ferilli, Marco, Levy, Michael A., Miele, Evelina, Nardini, Claudia, Cappelletti, Camilla, Relator, Raissa, Pitisci, Angela, De Vito, Rita, Pizzi, Simone, Kerkhof, Jennifer, McConkey, Haley, Nazio, Francesca, Kant, Sarina G., Di Donato, Maddalena, Agolini, Emanuele, Matraxia, Marta, Pasini, Barbara, Pelle, Alessandra, Galluccio, Tiziana, Novelli, Antonio, Barakat, Tahsin Stefan, Andreani, Marco, Rossi, Francesca, Mecucci, Cristina, Savoia, Anna, Sadikovic, Bekim, Locatelli, Franco, Tartaglia, Marco
Published in American journal of human genetics (02.11.2023)
Published in American journal of human genetics (02.11.2023)
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Journal Article
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, Leung, Gordon, Barone Pritchard, Amanda, Yang, Sandra, Bend, Eric G, Filippini, Francesca, Roadhouse, Chelsea, Lebrun, Nicolas, Mehaffey, Michele G, Martin, Pierre-Marie, Apple, Benjamin, Millan, Francisca, Puk, Oliver, Hoffer, Mariette J V, Henderson, Lindsay B, McGowan, Ruth, Wentzensen, Ingrid M, Pei, Steven, Zahir, Farah R, Yu, Mullin, Gibson, William T, Seman, Ann, Steeves, Marcie, Murrell, Jill R, Luettgen, Sabine, Francisco, Elizabeth, Strom, Tim M, Amlie-Wolf, Louise, Kaindl, Angela M, Wilson, William G, Halbach, Sara, Basel-Salmon, Lina, Lev-El, Noa, Denecke, Jonas, Vissers, Lisenka E L M, Radtke, Kelly, Chelly, Jamel, Zackai, Elaine, Friedman, Jan M, Bamshad, Michael J, Nickerson, Deborah A, Reid, Russell R, Devriendt, Koenraad, Chae, Jong-Hee, Stolerman, Elliot, McDougall, Carey, Powis, Zöe, Bienvenu, Thierry, Tan, Tiong Y, Orenstein, Naama, Dobyns, William B, Shieh, Joseph T, Choi, Murim, Waggoner, Darrel, Gripp, Karen W, Parker, Michael J, Stoler, Joan, Lyonnet, Stanislas, Cormier-Daire, Valérie, Viskochil, David, Hoffman, Trevor L, Amiel, Jeanne, Chung, Brian H Y, Gordon, Christopher T
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
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Mutations in CDMP1 cause autosomal dominant brachydactyly type C
Polinkovsky, Alexander, Robin, Nathaniel H, Thomas, J. Terrig, Irons, Mira, Lynn, Audrey, Goodman, Frances R, Reardon, William, Kant, Sarina G, Brunner, Han G, van der Burgt, Ineke, Chitayat, David, McGaughran, Julie, Donnai, Dian, Luyten, Frank P, Warman, Matthew L
Published in Nature genetics (01.09.1997)
Published in Nature genetics (01.09.1997)
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Published in European journal of human genetics : EJHG (01.02.2017)
Published in European journal of human genetics : EJHG (01.02.2017)
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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A S Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K, le Tissier, Paul, Gharavy, S Neda Mousavy, Martinez-Barbera, Juan P, Stokvis-Brantsma, Wilhelmina H, Vulsma, Thomas, Kempers, Marlies J, Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M E, Hokken-Koelega, Anita C S, Del Blanco, Daria Gorbenko, Rangasami, Jayanti J, Ruivenkamp, Claudia A L, Laros, Jeroen F J, Kriek, Marjolein, Kant, Sarina G, Bosch, Cathy A J, Biermasz, Nienke R, Appelman-Dijkstra, Natasha M, Corssmit, Eleonora P, Hovens, Guido C J, Pereira, Alberto M, den Dunnen, Johan T, Wade, Michael G, Breuning, Martijn H, Hennekam, Raoul C, Chatterjee, Krishna, Dattani, Mehul T, Wit, Jan M, Bernard, Daniel J
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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