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Servi J.C. Stevens

Maastricht University

38H-index
96Paper Count
4.8KCitation Count
Published Papers 42
Publication Date
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B
err2025-09-01
err1
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errStevens, Servi J. C.; van Dijk, Wanwisa; Souren, Nicole Y.; Macville, Merryn V. E.; van de Zande, Guillaume; Faas, Brigitte H. W.; de Koning, Bart; van den Wijngaard, Arthur; de Munnik, Sonja; Esteki, Masoud Zamani
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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
err2024-09-02
err2
errOAAI
errJanssen, Anouk E. J.; Koeck, Rebekka M.; Essers, Rick; Cao, Ping; van Dijk, Wanwisa; Drusedau, Marion; Meekels, Jeroen; Yaldiz, Burcu; van de Vorst, Maartje; de Koning, Bart; Hellebrekers, Debby M. E. I.; Stevens, Servi J. C.; Sun, Su Ming; Heijligers, Malou; de Munnik, Sonja A.; van Uum, Chris M. J.; Achten, Jelle; Hamers, Lars; Naghdi, Marjan; Vissers, Lisenka E. L. M.; van Golde, Ron J. T.; de Wert, Guido; Dreesen, Jos C. F. M.; de Die-Smulders, Christine; Coonen, Edith; Brunner, Han G.; van den Wijngaard, Arthur; Paulussen, Aimee D. C.; Zamani Esteki, Masoud
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
err2023-11-23
err12
errOAAI
errEssers, Rick; Lebedev, Igor N.; Kurg, Ants; Fonova, Elizaveta A.; Stevens, Servi J. C.; Koeck, Rebekka M.; von Rango, Ulrike; Brandts, Lloyd; Deligiannis, Spyridon Panagiotis; Nikitina, Tatyana V.; Sazhenova, Elena A.; Tolmacheva, Ekaterina N.; Kashevarova, Anna A.; Fedotov, Dmitry A.; Demeneva, Viktoria V.; Zhigalina, Daria I.; Drozdov, Gleb V.; Al-Nasiry, Salwan; Macville, Merryn V. E.; van den Wijngaard, Arthur; Dreesen, Jos; Paulussen, Aimee; Hoischen, Alexander; Brunner, Han G.; Salumets, Andres; Esteki, Masoud Zamani
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Prenatal diagnosis of a de novo deletion of 3q26.2 involving MECOM in a fetus with multiple congenital anomalies
err2023-10-02
err0
errOAAI
errWitters, I.; Severens-Rijvers, C.; Coumans, A.; Faas, B.; Krapels, I.; Stevens, S.; Al Nasiry, S.
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
err2023-08-14
err2
PREAI
errSzakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Genevieve, David; Rouxel, Flavien; Morin, Denis; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H.; Agre, Katherine E.; Jacquemont, Sebastien; Khadije, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W.; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B.; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-Gonzalez, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B.; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva M. C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C.
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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
err2023-03-31
err10
errOAAI
errOlde Keizer, Richelle A. C. M.; Marouane, Abderrahim; Kerstjens-Frederikse, Wilhelmina; Deden, A. Chantal; Lichtenbelt, Klaske; Jonckers, Tinneke; Vervoorn, Marieke; Vreeburg, Maaike; Henneman, Lidewij; de Vries, Linda; Sinke, Richard; Pfundt, Rolph; Stevens, Servi J. C.; Andriessen, Peter; van Lingen, Richard; Nelen, Marcel; Scheffer, Hans; Stemkens, Daphne; Oosterwijk, Cor; van Amstel, Hans Kristian Ploos; de Boode, Willem; van Zelst-Stams, Wendy A. G.; Frederix, Geert W. J.; Vissers, Lisenka E. L. M.
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
err2022-11-01
err22
errOAAI
errKayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing
err2022-09-23
err3
errOAAI
errvan Dijk, Wanwisa; Derks, Kasper; Drusedau, Marion; Meekels, Jeroen; Koeck, Rebekka; Essers, Rick; Dreesen, Joseph; Coonen, Edith; de Die-Smulders, Christine; Stevens, Servi J. C.; Brunner, Han G.; van den Wijngaard, Arthur; Paulussen, Aimee D. C.; Esteki, Masoud Zamani
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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
err2022-09-16
err42
errOAAI
errvan der Sanden, Bart P. G. H.; Schobers, Gaby; Galbany, Jordi Corominas; Koolen, David A.; Sinnema, Margje; van Reeuwijk, Jeroen; Stumpel, Connie T. R. M.; Kleefstra, Tjitske; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; Leijsten, Nico; Kwint, Michael; Derks, Ronny; Swinkels, Hilde; den Ouden, Amber; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Stegmann, Alexander P.; Stevens, Servi J.; van den Wijngaard, Arthur; Brunner, Han G.; Yntema, Helger G.; Gilissen, Christian; Nelen, Marcel R.; Vissers, Lisenka E. L. M.
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (vol 109, pg 1140, 2022)
err2022-07-01
err0
errOAAI
errSchuurman, Lisanne van Prooyen; Sistermans, Erik A.; Van Opstal, Diane; Henneman, Lidewij; Bekker, Mireille N.; Bax, Caroline J.; Pieters, Mijntje J.; Bouman, Katelijne; de Munnik, Sonja; den Hollander, Nicolette S.; Diderich, Karin E. M.; Faas, Brigitte H. W.; Feenstra, Ilse; Go, Attie T. J. I.; Hoffer, Brigitte Mariette J. V.; Joosten, Marieke; Komdeur, Fenne L.; Lichtenbelt, Klaske D.; Lombardi, Maria P.; Polak, Marike G.; Jehee, Fernanda S.; Schuring-Blom, Heleen; Stevens, Servi J. C.; Srebniak, Malgorzata I.; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Meij, Karuna R. M.; van Maarle, Merel C.; Vernimmen, Vivian; van Zelderen-Bhola, Shama L.; van Ravesteyn, Nicolien T.; Knapen, Maarten F. C. M.; Macville, Merryn V. E.; Galjaard, Robert-Jan H.
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
err2022-06-01
err65
errOAAI
errSchuurman, Lisanne van Prooyen; Sistermans, Erik A.; Van Opstal, Diane; Henneman, Lidewij; Bekker, Mireille N.; Bax, Caroline J.; Pieters, Mijntje J.; Bouman, Katelijne; de Munnik, Sonja; den Hollander, Nicolette S.; Diderich, Karin E. M.; Faas, Brigitte H. W.; Feenstra, Ilse; Go, Attie T. J., I; Hoffer, Mariette J., V; Joosten, Marieke; Komdeur, Fenne L.; Lichtenbelt, Klaske D.; Lombardi, Maria P.; Polak, Marike G.; Jehee, Fernanda S.; Schuring-Blom, Heleen; Stevens, Servi J. C.; Srebniak, Malgorzata, I; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Meij, Karuna R. M.; van Maarle, Merel C.; Vernimmen, Vivian; Van Zelderen-Bhola, Shama L.; van Ravesteyn, Nicolien T.; Knapen, Maarten F. C. M.; Macville, Merryn V. E.; Galjaard, Robert-Jan H.
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Liquid biopsy: state of reproductive medicine and beyond
err2021-09-25
err12
errOAAI
errSchobers, Gaby; Koeck, Rebekka; Pellaers, Dominique; Stevens, Servi J. C.; Macville, Merryn V. E.; Paulussen, Aimee D. C.; Coonen, Edith; van den Wijngaard, Arthur; de Die-Smulders, Christine; de Wert, Guido; Brunner, Han G.; Esteki, Masoud Zamani
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
err2021-06-01
err45
errOAAI
errRots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
err2020-08-01
err44
errOAAI
errManole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry
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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
err2019-12-01
err251
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errvan der Meij, Karuna R. M.; Sistermans, Erik A.; Macville, Merryn V. E.; Stevens, Servi J. C.; Bax, Caroline J.; Bekker, Mireille N.; Bilardo, Caterina M.; Boon, Elles M. J.; Boter, Marjan; Diderich, Karin E. M.; de Die-Smulders, Christine E. M.; Duin, Leonie K.; Faas, Brigitte H. W.; Feenstra, Ilse; Haak, Monique C.; Hoffer, Mariette J. V.; den Hollander, Nicolette S.; Hollink, Iris H. I. M.; Jehee, Fernanda S.; Knapen, Maarten F. C. M.; Kooper, Angelique J. A.; van Langen, Irene M.; Lichtenbelt, Klaske D.; Linskens, Ingeborg H.; van Maarle, Merel C.; Oepkes, Dick; Pieters, Mijntje J.; Schuring-Blom, G. Heleen; Sikkel, Esther; Sikkema-Raddatz, Birgit; Smeets, Dominique F. C. M.; Srebniak, Malgorzata I.; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Ven, A. Jeanine E. M.; van Zelderen-Bhola, Shama L.; Henneman, Lidewij; Galjaard, Robert-Jan H.; Van Opstal, Diane; Weiss, Marjan M.
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
err2019-10-15
err40
errOAAI
errGuo, Hui; Bettella, Elisa; Marcogliese, Paul C.; Zhao, Rongjuan; Andrews, Jonathan C.; Nowakowski, Tomasz J.; Gillentine, Madelyn A.; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H.; van Bon, Bregje W.; Rinne, Tuula; Stevens, Servi J. C.; Kleefstra, Tjitske; Brunner, Han G.; Yntema, Helger G.; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E.; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U.; Erwin, Deanna J.; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B.; Abou Jamra, Rami; Buettner, Benjamin; Mefford, Heather C.; Muir, Alison M.; Scheffer, Ingrid E.; Regan, Brigid M.; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M.; Waisfisz, Quinten; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Ruivenkamp, Claudia A. L.; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A.; Bernier, Raphael A.; Wangler, Michael F.; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P. A.; Bellen, Hugo J.; Murgia, Alessandra; Eichler, Evan E.; Nickerson, Deborah A.; Bamshad, Michael J.
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Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature
err2019-09-23
err8
errOAAI
errKerkhofs, Chantal; Stevens, Servi J. C.; Faust, Saul N.; Rae, William; Williams, Anthony P.; Wurm, Peter; Ostern, Rune; Fockens, Paul; Wuerfel, Christiane; Laass, Martin; Kokke, Freddy; Stegmann, Alexander P. A.; Brunner, Han G.
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Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
err2019-08-21
err30
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errFrints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordass, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernandez-Jaen, Alberto; van Roozendaal, Kees; Stevens, Servi J. C.; Macville, Merryn V. E.; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S.; Engle, Elizabeth C.; Houge, Gunnar; Gradek, Gyri A.; Douglas, Andrew G. L.; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C.; Hirata, Hiromi; Kalscheuer, Vera M.
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De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability
err2018-05-10
err17
errOAAI
errStevens, Servi J. C.; van der Schoot, Vyne; Leduc, Magalie S.; Rinne, Tuula; Lalani, Seema R.; Weiss, Marjan M.; van Hagen, Johanna M.; Lachmeijer, Augusta M. A.; Stockler-Ipsiroglu, Sylvia G.; Lehman, Anna; Brunner, Han G.
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