Rolph Pfundt - Publications, H-index & Citations

Rolph Pfundt

university of london

79H指数

376论文数

2.1W被引数

收录论文 197

发表时间

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder KDM6B相关的神经发育障碍的临床与分子谱

The American Journal of Human Genetics

IF0

2025-10-18

PREAI

Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2025-03-01

OAAI

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, Cecile; 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; Blok, Lot Snijders

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2025-01-01

OAAI

van der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter

RICTOR variants are associated with neurodevelopmental disorders

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-12-30

PREAI

Carapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

HUMAN MOLECULAR GENETICS

IF3.2

2024-11-20

OAAI

Sandal, Priyanka; Jong, Chian Ju; Merrill, Ronald A.; Kollman, Grace J.; Paden, Austin H.; Bend, Eric G.; Sullivan, Jennifer; Spillmann, Rebecca C.; Shashi, Vandana; Vulto-van Silfhout, Anneke T.; Pfundt, Rolph; de Vries, Bert B. A.; Li, Pan P.; Bicknell, Louise S.; Strack, Stefan

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-10-24

OAAI

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina

Novel variants in the SOX11 gene: clinical description of seven new patients

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-09-27

PREAI

Schincariol-Manhe, Beatriz; Campagnolo, Erica; Spineli-Silva, Samira; de Leeuw, Nicole; Correia-Costa, Gabriela Roldao; Pessoa, Andre; de Souza, Carolina Fischinger Moura; Stevens, Cathy; Javaher, Poupak; Scallet, Helena Fabbri; Mohr, Julia; Biskup, Saskia; Herkert, Johanna C.; Pfundt, Rolph; Mehta, Lakshmi; Rekab, Aisha; Elloumi, Houda Zghal; Sanyoura, May; Maciel-Guerra, Andrea Trevas; Gil-da-Silva-Lopes, Vera Lucia; dos Santos, Ana Mondadori; Vieira, Tarsis Paiva

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 全面的EHMT1变异分析拓宽了Kleefstra综合征的基因型-表型关联和分子机制

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-08-01

PREAI

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-08-01

PREAI

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

Automatized detection of uniparental disomies in a large cohort 在大型队列中自动检测单亲父母

HUMAN GENETICS

IF3.6

2024-07-16

OAAI

Moch, Johanna; Radtke, Maximilian; Liehr, Thomas; Eggermann, Thomas; Gilissen, Christian; Pfundt, Rolph; Astuti, Galuh; Hentschel, Julia; Schumann, Isabell

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-06-01

OAAI

Kalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

HUMAN GENETICS

IF3.6

2024-05-24

OAAI

Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; 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; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features

BRAIN

IF11.7

2024-05-16

OAAI

Harel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G.; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M.; Innes, A. Micheil; Keren, Boris; Macken, William L.; Marcelis, Carlo; Otten, Catherine E.; Paolucci, Sarah A.; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D. S.; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stephane D.; Elpeleg, Orly; Tora, Laszlo

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

NATURE MEDICINE

IF50

2024-05-14

PREAI

Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-04-01

OAAI

van der Made, Caspar I.; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R.; Ramakrishnan, Gayatri; Griffin, Helen; van der Loeff, Ina Schim; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H. M.; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L.; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M.; van de Veerdonk, Frank L.; Netea, Mihai G.; Slatter, Mary A.; Flood, Terry; Gennery, Andrew R.; Simon, Amos J.; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S. V.; Hoischen, Alexander

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

NATURE COMMUNICATIONS

IF15.7

2024-02-22

OAAI

Werren, Elizabeth A.; Laforce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raul; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E.

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

LIFE SCIENCE ALLIANCE

IF2.9

2024-01-05

OAAI

Koch, Intisar; Slovik, Maya; Zhang, Yuling; Liu, Bingyu; Rennie, Martin; Konz, Emily; Cogne, Benjamin; Daana, Muhannad; Davids, Laura; Diets, Illja J.; Gold, Nina B.; Holtz, Alexander M.; Isidor, Bertrand; Mor-Shaked, Hagar; Fresneda, Juanita Neira; Niederhoffer, Karen Y.; Nizon, Mathilde; Pfundt, Rolph; Simon, Meh; Stegmann, Apa; Sacoto, Maria J. Guillen; Wevers, Marijke; Barakat, Tahsin Stefan; Yanovsky-Dagan, Shira; Atanassov, Boyko S.; Toth, Rachel; Gao, Chengjiang; Bustos, Francisco; Harel, Tamar

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 剪接体功能异常导致具有重叠特征的神经发育障碍

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2024-01-02

OAAI

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes 复发性从头MAX p.Arg60Gln变体通过c-myc靶基因的差异表达引起综合征过度生长障碍

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-01-01

OAAI

Harris, Erica L.; Roy, Vincent; Montagne, Martin; Rose, Ailsa M. S.; Livesey, Helen; Reijnders, Margot R. F.; Hobson, Emma; Sansbury, Francis H.; Willemsen, Marjolein H.; Pfundt, Rolph; Warren, Daniel; Long, Vernon; Carr, Ian M.; Brunner, Han G.; Sheridan, Eamonn G.; Firth, Helen V.; Lavigne, Pierre; Poulter, James A.

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

JCI INSIGHT

IF6.1

2023-11-22

OAAI

Abdel-Salam, Ghada M. H.; Hellmuth, Susanne; Gradhand, Elise; Kaeseberg, Stephan; Winter, Jennifer; Pabst, Ann-Sophie; Eid, Maha M.; Thiele, Holger; Nuernberg, Peter; Budde, Birgit S.; Toliat, Mohammad Reza; Brecht, Ines B.; Schroeder, Christopher; Gschwind, Axel; Ossowski, Stephan; Haeuser, Friederike; Rossmann, Heidi; Abdel-Hamid, Mohamed S.; Hegazy, Ibrahim; Mohamed, Ahmed G.; Schneider, Dominik T.; Bertoli-Avella, Aida; Bauer, Peter; Pearring, Jillian N.; Pfundt, Rolph; Hoischen, Alexander; Gilissen, Christian; Strand, Dennis; Zechner, Ulrich; Tashkandi, Soha A.; Faqeih, Eissa A.; Stemmann, Olaf; Strand, Susanne; Bolz, Hanno J.

研究方向