부산대학교 도서관

El Ghaleb, Yousra; Fernandez-Quintero, Monica L.; Campiglio, Marta; Tuluc, Petronel; Höing, Ann-Sophie; Kortüm, Fanny; Motazacker, Mahdi M.; Jansen, Iris E.; Elting, Mariet W.; Plomp, Astrid S.; Fischer, Anna-Lena M.; Siu, Victoria M.; Kutsche, Kerstin; Flucher, Bernhard E.

PLOS Genetics. 21(8)

Kennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W.; Boelen, Caroline; Marcelis, Carlo L. M.; de Vries, Bert B. A.; Elting, Mariet W.; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S.; Donnelly, Deirdre E.; Rogers, R. Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cécile; Sallevelt, Suzanne C. E. H.; Maas, Saskia M.; Smits, Jeroen J.; van Haelst, Mieke M.; Levy, Rebecca J.; Stewart, Helen; Loeys, Bart L.; Pfundt, Rolph; Kleefstra, Tjitske; Snijders Blok, Lot

European Journal of Human Genetics. 33(8):980-988

Celli, Luca; Garrelfs, Mark R.; Sakkers, Ralph J. B.; Elting, Mariet W.; Celli, Mauro; Bökenkamp, Arend; Smits, Cas; Goderie, Thadé; Smit, Jan Maerten; Schwarte, Lothar A.; Schober, Patrick R.; Lubbers, Wouter D.; Visser, Marieke C.; Kievit, Arthur J.; van Royen, Barend J.; Gilijamse, Marjolijn; Schreuder, Willem H.; Rustemeyer, Thomas; Pramana, Angela; Hendrickx, Jan-Jaap; Dahele, Max R.; Saeed, Peerooz; Moll, Annette C.; Curro–Tafili, Katie R.; Ghyczy, Ebba A. E.; Dickhoff, Chris; de Leeuw, Robert A.; Bonjer, Jaap H.; Nieuwenhuijzen, Jakko A.; Konings, Thelma C.; Engelsman, Anton F.; Eeckhout, Augustinus M.; van den Aardweg, Joost G.; Thoral, Patrick J.; Noske, David P.; Dubois, Leander; Teunissen, Berend P.; Semler, Oliver; Wekre, Lena Lande; Maasalu, Katre; Märtson, Aare; Sangiorgi, Luca; Versacci, Paolo; Riminucci, Mara; Grammatico, Paola; Zambrano, Anna; Martini, Lorena; Castori, Marco; Botman, Esmee; Westerheim, Ingunn; Zhytnik, Lidiia; Micha, Dimitra; Eekhoff, Elisabeth Marelise W.

Calcified Tissue International: and Musculoskeletal Research. 115(6):960-975

Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle; Rooney, Kathleen; Levy, Michael; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Maas, Saskia M.; Vissers, Lisenka; de Vries, Bert; Pfundt, Rolph; Elting, Mariet; van Hagen, Johanna; Verbeek, Nienke E; Jongmans, Marjolijn C.J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Geneviève, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles; Õunap, Katrin; Hoffer, Mariette; Nezarati, Marjan; van den Boogaard, Marie-José; Tedder, Matthew; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; Mccann, Emma; Mroczkowski, Henry; Jansen, Sandra; Donker Kaat, Laura; Duijkers, Floor; Stuurman, Kyra E.; Mannens, Marcel M.A.M; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M

Hum Genet
Human Genetics, 143, 6, pp. 761-773
Human genetics

Loberti, Lorenzo ; Adamo, Loredaria ; Antolini, Enrica ; Casamassima, Giulia ; Destrèe, Anne ; Brunetti-Pierri, Nicola ; Genevieve, David ; Christophe, Philippe ; Coubes, Christine ; Van Esch, Hilde ; Herget, Theresia ; Kortüm, Fanny ; Lisfeld, Jasmin ; Möllring, Anna Charlotte ; Zenker, Martin ; Levy, Jonathan ; Perrin, Laurence ; Tabet, Anne-Claude ; Maruani, Anna ; Sorlin, Arthur ; Stieber, Daniel ; Herissant, Lucas ; Dahan, Karin ; Sinibaldi, Lorenzo ; Capolino, Rossella ; Dentici, Maria Lisa ; Dallapiccola, Bruno ; Novelli, Antonio ; Garavelli, Livia ; Caraffi, Stefano Giuseppe ; Piatelli, Gianluca ; Valenzuela, Irene ; Digilio, Maria Cristina ; Caumes, Roseline ; Knopp, Cordula ; Chwiałkowska, Karolina ; Jezela-Stanek, Aleksandra ; Kwasniewski, Miroslaw ; Korotko, Urszula ; Gorzałczyńska, Ewelina ; Canitano, Roberto ; Grosso, Salvatore ; Rahikkala, Elisa ; Mattern, Larissa ; Elbracht, Miriam ; Zuffardi, Orsetta ; Caputo, Valentina ; Toschi, Benedetta ; Beunders, Gea ; Leeuwen, Lisette ; Elting, Mariet W. ; van der Laan, Liselot ; Broekema, Marjoleine F. ; Groffen, Alexander J. ; van de Kamp, Jiddeke M. ; van Haelst, Mieke M. ; Alders, Marielle ; Mauro, Salvatore Pietro ; De Razza, Francesca ; Varvara, Dora ; Kick, Johanna ; Gaspar, Harald ; Braun, Dominique ; Lausberg, Eva ; Maier, Andrea ; Ruault, Valentin ; Genesio, Rita ; Tartaglia, Marco ; Tita, Rossella ; Bruttini, Mirella ; Longo, Ilaria ; Baldassarri, Margherita ; Mencarelli, Maria Antonietta ; Renieri, Alessandra ; Pinto, Anna Maria

In Genetics in Medicine June 2025 27(6)

Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie; Attié-Bitach, Tania; Comier-Daire, Valerie; Rozet, Jean-Michel; Frishberg, Yaacov; Llanas, Brigitte; Broyer, Michel; Mohsin, Nabil; Macher, Marie-Alice; Philip, Nicole; Baudouin, Véronique; Brackman, Damian; Loirat, Chantal; Charbit, Marina; Dehennault, Maud; Guyot, Claude; Bataille, Pierre; Elting, Mariet; Deschenes, Georges; Gropman, Andrea; Guest, Geneviève; Gagnadoux, Marie-France; Nicoud, Philippe; Cochat, Pierre; Ranchin, Bruno; Bensman, Albert; Guerrot, Anne-Marie; Knebelmann, Bertrand; Bilge, Ilmay; Bruno, Danièle; Burtey, Stéphane; Rouvière, Caroline Rousset; Caudwell, Valérie; Morin, Denis; Dollfus, 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Emmanuelle; Gauthier, Eric; Plasse, Florent; Faguer, Stanislas; Lebas, Fanny; Demurger, Florence; Emma, Francesco; Cartault, François; Dumont, Geneviève; Godefroid, Nathalie; Guigonis, Vincent; Hillaire, Sophie; Groothoff, Jaap; Dudley, Jan; Jourde-Chiche, Noémie; El Karoui, Khalil; Krid, Saoussen; Coudert, Krier; Bencheick, Larbi; Yver, Laurent; Lavocat, Marie-Pierre; de Sagazan, Le Monies; Leroy, Valerie; Thibaudin, Lise; Ingulli, Liz; Gwanmesia, Lorraine; Burglen, Lydie; Saïd-Menthon, Marie-Hélène; Carrera, Marta; Nizon, Mathilde; Melander, Catherine; Foulard, Michel; Blayo, Monique; Prinseau, Jacques; Jay, Nadine; Brun, Nathalie; Camille, Nicolas; Nobili, François; Devuyst, Olivier; Ben Brahim, Ouafa; Parvex, Paloma; Sabourin, Laurence Perrin; Blanc, Philippe; Vanhille, Philippe; Galichon, Pierre; Pierrepont, Sophie; Planquois, Vincent; Poussard, Gwenaelle; Noble, Claire Pouteil; Allal, Radia; Bernard, Raphaelle; Mounet, Raynaud; Cahen, Rémi; Touraine, Renaud; Rigothier, 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INSERM–Necker Hospital NPH collaborative group 2023, 'The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies', Kidney International, vol. 104, no. 2, pp. 378-387. https://doi.org/10.1016/j.kint.2023.05.007

van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M.A.M.; Alders, Mariëlle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.

Human Genetics and Genomics Advances. 5(3)

Levy, Michael; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara; Elting, Mariet; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin; Cherick, Florian; Foroutan, Aidin; Friez, Michael; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond; Maitz, Silvia; Milani, Donatella; Morgan, Angela; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie; Piccione, Maria; Plomp, Astrid; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje; Vergano, Samantha; Vos, Niels; Walden, Kellie; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer; Mannens, Marcel; Roscioli, Tony; Siu, Victoria; Amor, David; Baynam, Gareth; Bend, Eric; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill; Fleming, Mark; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin; Mcneill, Alisdair; Menke, Leonie; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven; Stevenson, Roger; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew; Sadikovic, Bekim

Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation, vol. 43, no. 11, pp. 1609-1628. https://doi.org/10.1002/humu.24446
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Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Deciphering Developmental Disorders Study 2022, 'Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 750-758. https://doi.org/10.1016/j.ajhg.2022.02.003
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American journal of human genetics, Vol. 109, no. 4, p. 750-758 (2022)
Am. J. Hum. Genet. 109, 750-758 (2022)

Treurniet, Sanne; Bevers, Melissa S. A. M.; Wyers, Caroline E.; Micha, Dimitra; Teunissen, Bernd P.; Elting, Mariet W.; van den Bergh, Joop P.; Eekhoff, Elisabeth M. W.

Calcified Tissue International: and Musculoskeletal Research. :1-7

Levy, Michael A. ; McConkey, Haley ; Kerkhof, Jennifer ; Barat-Houari, Mouna ; Bargiacchi, Sara ; Biamino, Elisa ; Bralo, María Palomares ; Cappuccio, Gerarda ; Ciolfi, Andrea ; Clarke, Angus ; DuPont, Barbara R. ; Elting, Mariet W. ; Faivre, Laurence ; Fee, Timothy ; Fletcher, Robin S. ; Cherik, Florian ; Foroutan, Aidin ; Friez, Michael J. ; Gervasini, Cristina ; Haghshenas, Sadegheh ; Hilton, Benjamin A. ; Jenkins, Zandra ; Kaur, Simranpreet ; Lewis, Suzanne ; Louie, Raymond J. ; Maitz, Silvia ; Milani, Donatella ; Morgan, Angela T. ; Oegema, Renske ; Østergaard, Elsebet ; Pallares, Nathalie Ruiz ; Piccione, Maria ; Pizzi, Simone ; Plomp, Astrid S. ; Poulton, Cathryn ; Reilly, Jack ; Relator, Raissa ; Rius, Rocio ; Robertson, Stephen ; Rooney, Kathleen ; Rousseau, Justine ; Santen, Gijs W.E. ; Santos-Simarro, Fernando ; Schijns, Josephine ; Squeo, Gabriella Maria ; St John, Miya ; Thauvin-Robinet, Christel ; Traficante, Giovanna ; van der Sluijs, Pleuntje J. ; Vergano, Samantha A. ; Vos, Niels ; Walden, Kellie K. ; Azmanov, Dimitar ; Balci, Tugce ; Banka, Siddharth ; Gecz, Jozef ; Henneman, Peter ; Lee, Jennifer A. ; Mannens, Marcel M.A.M. ; Roscioli, Tony ; Siu, Victoria ; Amor, David J. ; Baynam, Gareth ; Bend, Eric G. ; Boycott, Kym ; Brunetti-Pierri, Nicola ; Campeau, Philippe M. ; Christodoulou, John ; Dyment, David ; Esber, Natacha ; Fahrner, Jill A. ; Fleming, Mark D. ; Genevieve, David ; Kerrnohan, Kristin D. ; McNeill, Alisdair ; Menke, Leonie A. ; Merla, Giuseppe ; Prontera, Paolo ; Rockman-Greenberg, Cheryl ; Schwartz, Charles ; Skinner, Steven A. ; Stevenson, Roger E. ; Vitobello, Antonio ; Tartaglia, Marco ; Alders, Marielle ; Tedder, Matthew L. ; Sadikovic, Bekim

In Human Genetics and Genomics Advances 13 January 2022 3(1)

Claeys, Lauria; Storoni, Silvia; Eekhoff, Marelise; Elting, Mariet; Wisse, Lisanne; Pals, Gerard; Bravenboer, Nathalie

Human Genetics. August, 2021, Vol. 140 Issue 8, p1121, 21 p.

Weerts, Marjolein J.A. ; Lanko, Kristina ; Guzmán-Vega, Francisco J. ; Jackson, Adam ; Ramakrishnan, Reshmi ; Cardona-Londoño, Kelly J. ; Peña-Guerra, Karla A. ; van Bever, Yolande ; van Paassen, Barbara W. ; Kievit, Anneke ; van Slegtenhorst, Marjon ; Allen, Nicholas M. ; Kehoe, Caroline M. ; Robinson, Hannah K. ; Pang, Lewis ; Banu, Selina H. ; Zaman, Mashaya ; Efthymiou, Stephanie ; Houlden, Henry ; Järvelä, Irma ; Lauronen, Leena ; Määttä, Tuomo ; Schrauwen, Isabelle ; Leal, Suzanne M. ; Ruivenkamp, Claudia A.L. ; Barge-Schaapveld, Daniela Q.C.M. ; Peeters-Scholte, Cacha M.P.C.D. ; Galehdari, Hamid ; Mazaheri, Neda ; Sisodiya, Sanjay M. ; Harrison, Victoria ; Sun, Angela ; Thies, Jenny ; Pedroza, Luis Alberto ; Lara-Taranchenko, Yana ; Chinn, Ivan K. ; Lupski, James R. ; Garza-Flores, Alexandra ; McGlothlin, Jeffery ; Yang, Lin ; Huang, Shaoping ; Wang, Xiaodong ; Jewett, Tamison ; Rosso, Gretchen ; Lin, Xi ; Mohammed, Shehla ; Merritt, J. Lawrence, II ; Mirzaa, Ghayda M. ; Timms, Andrew E. ; Scheck, Joshua ; Elting, Mariet W. ; Polstra, Abeltje M. ; Schenck, Lauren ; Ruzhnikov, Maura R.Z. ; Vetro, Annalisa ; Montomoli, Martino ; Guerrini, Renzo ; Koboldt, Daniel C. ; Mosher, Theresa Mihalic ; Pastore, Matthew T. ; McBride, Kim L. ; Peng, Jing ; Pan, Zou ; Willemsen, Marjolein ; Koning, Susanne ; Turnpenny, Peter D. ; de Vries, Bert B.A. ; Gilissen, Christian ; Pfundt, Rolph ; Lees, Melissa ; Braddock, Stephen R. ; Klemp, Kara C. ; Vansenne, Fleur ; van Gijn, Marielle E. ; Quindipan, Catherine ; Deardorff, Matthew A. ; Hamm, J. Austin ; Putnam, Abbey M. ; Baud, Rebecca ; Walsh, Laurence ; Lynch, Sally A. ; Baptista, Julia ; Person, Richard E. ; Monaghan, Kristin G. ; Crunk, Amy ; Keller-Ramey, Jennifer ; Reich, Adi ; Elloumi, Houda Zghal ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Haghshenas, Sadegheh ; Maroofian, Reza ; Sadikovic, Bekim ; Banka, Siddharth ; Arold, Stefan T. ; Barakat, Tahsin Stefan

In Genetics in Medicine November 2021 23(11):2122-2137

Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt; J. Lawrence; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan

Genet Med
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine

Motta, Marialetizia ; Pannone, Luca ; Pantaleoni, Francesca ; Bocchinfuso, Gianfranco ; Radio, Francesca Clementina ; Cecchetti, Serena ; Ciolfi, Andrea ; Di Rocco, Martina ; Elting, Mariet W. ; Brilstra, Eva H. ; Boni, Stefania ; Mazzanti, Laura ; Tamburrino, Federica ; Walsh, Larry ; Payne, Katelyn ; Fernández-Jaén, Alberto ; Ganapathi, Mythily ; Chung, Wendy K. ; Grange, Dorothy K. ; Dave-Wala, Ashita ; Reshmi, Shalini C. ; Bartholomew, Dennis W. ; Mouhlas, Danielle ; Carpentieri, Giovanna ; Bruselles, Alessandro ; Pizzi, Simone ; Bellacchio, Emanuele ; Piceci-Sparascio, Francesca ; Lißewski, Christina ; Brinkmann, Julia ; Waclaw, Ronald R. ; Waisfisz, Quinten ; van Gassen, Koen ; Wentzensen, Ingrid M. ; Morrow, Michelle M. ; Álvarez, Sara ; Martínez-García, Mónica ; De Luca, Alessandro ; Memo, Luigi ; Zampino, Giuseppe ; Rossi, Cesare ; Seri, Marco ; Gelb, Bruce D. ; Zenker, Martin ; Dallapiccola, Bruno ; Stella, Lorenzo ; Prada, Carlos E. ; Martinelli, Simone ; Flex, Elisabetta ; Tartaglia, Marco

In The American Journal of Human Genetics 3 September 2020 107(3):499-513

Kennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia AL; Nibbeling, Esther; Dingemans, Alexander JM; Douine, Emilie D; Nelson, Stanley F; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A; Newbury-Ecob, Ruth

Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Arboleda, V A & The DDD Study, 2019, 'KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants', Genetics in Medicine, vol. 21, no. 4, pp. 850-860. https://doi.org/10.1038/s41436-018-0259-2
Genetics in medicine : official journal of the American College of Medical Genetics
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United States
Genetics in Medicine, vol 21, iss 4

van der Lee, Sven J.; Hulsman, Marc; Van Spaendonk, Rosalina; van der Schaar, Jetske; Dijkstra, Janna; Tesi, Niccolo; van Ruissen, Fred; Elting, Mariet; Reinders, Marcel; De Rojas, Itziar; Verschuuren-Bemelmans, Corien C.; van der Flier, Wiesje M.; van Haelst, Mieke M.; de Geus, Christa; Pijnenburg, Yolande; Holstege, Henne

NEUROLOGY; FEB 25 2025, 104 4, pe210273 12p.

Storoni, Silvia; Verdonk, Sara J. E.; Zhytnik, Lidiia; Pals, Gerard; Treurniet, Sanne; Elting, Mariet W.; Sakkers, Ralph J. B.; van den Aardweg, Joost G.; Eekhoff, Elisabeth M. W.; Micha, Dimitra

Biomolecules. February, 2023, Vol. 13 Issue 2

Storoni, Silvia; Treurniet, Sanne; Maugeri, Alessandra; Pals, Gerard; van den Aardweg, Joost G.; van der Pas, Stéphanie L.; Elting, Mariet W.; Kloen, Peter; Micha, Dimitra; Eekhoff, Elisabeth Marelise W.

Front Endocrinol (Lausanne)
Frontiers in Endocrinology, Vol 13 (2022)
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Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Maria; Gabau, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Mª; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; Universitat Autònoma de Barcelona