Gijs Santen
Professor Clinical Genetics
- Name
- Prof.dr. G.W.E. Santen
- Telephone
- +31 71 526 8033
- g.w.e.santen@lumc.nl
- ORCID iD
- 0000-0003-1959-3267
Gijs Santen is professor and department head of Clinical Genetics at LUMC. He is coordinator of the expertise center for congenital anomalies and intellectual disability.
More information about Gijs Santen
Gijs Santen is professor and department head of Clinical Genetics at LUMC. He is coordinator of the expertise center for congenital anomalies and intellectual disability.
Clinical Genetics
Clinical Genetics focuses on identifying genetic causes of mostly rare disorders, communicating findings and related advice to the patient in a way that enables the patient to use this knowledge, and conducting research in this field.
An important focus of the chair is the development and implementation of new techniques in genetic diagnostics, such as in recent years the implementation of exome sequencing for pregnancies in which an ultrasound abnormality is detected. This involves not only technical aspects such as diagnostic yield, but also patient experience.
A second area of focus involves translational research in the field of genetic causes of developmental disorders, particularly Coffin-Siris syndrome. This research ranges from discovering causal mechanisms, through describing the characteristics of the syndrome with the aim of providing better patient information, to conducting clinical studies to improve treatment. This research naturally takes place in a multidisciplinary context, for example within the ProMiSe consortium that arose from an NWA-ORC grant, which fits within the Personalized Medicine route.
Academic career
Gijs Santen studied Biopharmaceutical Sciences and Medicine at Leiden University. He received his PhD from Prof. Meindert Danhof of the Leiden Academic Center for Drug Research on Sept. 10, 2008, with the thesis ‘To fail or not to fail: clinical trials in depression’. After his clinical rotations, he started training as a Clinical Geneticist in 2011, which he completed in 2016.
In 2013, he was awarded the Gisela Thier fellowship with which he conducted research on Coffin-Siris syndrome. In addition, over the years he and his team have engaged in implementation of new techniques in diagnostics, such as exome sequencing for pregnancies with congenital anomalies. On January 1, 2023, he was appointed Head of Department of Clinical Genetics, on June 1, 2024, Professor of Clinical Genetics, and he is expected to deliver his inaugural lecture in the course of 2025.
Professor Clinical Genetics
- Faculteit Geneeskunde
- Divisie 4
- Klinische Genetica
- Koning, M.A. de; Ramirez, P.A.P.; Haak, M.C.; Han, X.; Ruiterkamp-Versteeg, M.H.; Leeuw, N. de; Schatz, U.A.; Shoukier, M.; Rieger-Fackeldey, E.; Ortiz, J.U.; Duinen, S.G. van; Klein, W.M.; Witlox, R.S.G.M.; Finnell, R.H.; Santen, G.W.E.; Lei, Y.P. & Suerink, M. (2024), De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops, Journal of Medical Genetics.
- Beygo, J.; Russo, S.; Tannorella, P.; Santen, G.W.E.; Dufke, A.; Schlaich, E. & Eggermann, T. (2023), Prenatal testing for imprinting disorders: A laboratory perspective, Prenatal Diagnosis 43(8): 973-982.
- Dingemans, A.J.M.; Hinne, M.; Truijen, K.M.G.; Goltstein, L.; Reeuwijk, J. van; Leeuw, N. de; Schuurs-Hoeijmakers, J.; Pfundt, R.; Diets, I.J.; Hoed, J. den; Boer, E. de; Spek, J. van der; Jansen, S.; Bon, B.W. van; Jonis, N.; Ockeloen, C.W.; Silfhout, A.V.V.T.; Kleefstra, T.; Koolen, D.A.; Campeau, P.M.; Palmer, E.E.; Esch, H. van; Lyon, G.J.; Alkuraya, F.S.; Rauch, A.; Marom, R.; Baralle, D.; Sluijs, P.J. van der; Santen, G.W.E.; Kooy, R.F.; Gerven, M.A.J. van; Vissers, L.E.L.M. & Vries, B.B.A. de (2023), PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework, Nature Genetics 55.
- Koopmann, T.T.; Jamshidi, Y.; Naghibi-Sistani, M.; Klift, H.M. van der; Birjandi, H.; Al-Hassnan, Z.; Alwadai, A.; Zifarelli, G.; Karimiani, E.G.; Sedighzadeh, S.; Bahreini, A.; Nouri, N.; Peter, M.; Watanabe, K.; Duyvenvoorde, H.A. van; Ruivenkamp, C.A.L.; Teunissen, A.K.K.; Harkel, A.D.J. ten; Duinen, S.G. van; Haak, M.C.; Prada, C.E.; Santen, G.W.E. & Maroofian, R. (2023), Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy, European Journal of Human Genetics 31(1): 97-104.
- Sluijs, P.J. van der; Vergano, S.A.; Roeder, E.R.; Jongmans, M.C.J. & Santen, G.W.E. (2023), Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by C acute accent arcamo et al. 2022, European Journal of Medical Genetics 66(2).
- Valencia, A.M.; Sankar, A.; Sluijs, P.J. van der; Satterstrom, F.K.; Fu, J.C.; Talkowski, M.E.; Vergano, S.A.S.; Santen, G.W.E. & Kadoch, C. (2023), Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders, Nature Genetics 55(8): 1400-+.
- Bosch, E.; Popp, B.; Güse, E.; Skinner, C.; Sluijs, P.J. van der; Maystadt, I.; Pinto, A.M.; Renieri, A.; Bruno, L.P.; Granata, S.; Marcelis, C.; Baysal, Ö.; Hartwich, D.; Holthöfer, L.; Isidor, B.; Cogne, B.; Wieczorek, D.; Capra, V.; Scala, M.; Marco, P. de; Ognibene, M.; Abou Jamra, R.; Platzer, K.; Carter, L.B.; Kuismin, O.; Haeringen, A. van; Maroofian, R.; Valenzuela, I.; Cuscó, I.; Martinez-Agosto, J.A.; Rabani, A.M.; Mefford, H.C.; Pereira, E.M.; Close, C.; Anyane-Yeboa, K.; Wagner, M.; Hannibal, M.C.; Zacher, P.; Thiffault, I.; Beunders, G.; Umair, M.; Bhola, P.T.; Mcginnis, E.; Millichap, J.; Kamp, J.M. van de; Prijoles, E.J.; Dobson, A.; Shillington, A.; Graham, B.H.; Garcia, E.J.; Galindo, M.K.; Ropers, F.G.; Nibbeling, E.A.R.; Hubbard, G.; Karimov, C.; Goj, G.; Bend, R.; Rath, J.; Morrow, M.M.; Millan, F.; Salpietro, V.; Torella, A.; Nigro, V.; Kurki, M.; Stevenson, R.E.; Santen, G.W.E.; Zweier, M.; Campeau, P.M.; Severino, M.; Reis, A.; Accogli, A. & Vasileiou, G. (2023), Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals, Genetics in Medicine 25(11).
- Boer, E. de; Ockeloen, C.W.; Kampen, R.A.; Hampstead, J.E.; Dingemans, A.J.M.; Rots, D.; Lütje, L.; Ashraf, T.; Baker, R.; Barat-Houari, M.; Angle, B.; Chatron, N.; Denommé-Pichon, A.S.; Devinsky, O.; Dubourg, C.; Elmslie, F.; Elloumi, H.Z.; Faivre, L.; Fitzgerald-Butt, S.; Geneviéve, D.; Goos, J.A.C.; Helm, B.M.; Kini, U.; Lasa-Aranzasti, A.; Lesca, G.; Lynch, S.A.; Mathijssen, I.M.J.; McGowan, R.; Monaghan, K.G.; Odent, S.; Pfundt, R.; Putoux, A.; Reeuwijk, J. van; Santen, G.W.E.; Sasaki, E.; Sorlin, A.; Spek, P.J. van der; Stegmann, A.P.A.; Swagemakers, S.M.A.; Valenzuela, I.; Viora-Dupont, E.; Vitobello, A.; Ware, S.M.; Wéber, M.; Gilissen, C.; Low, K.J.; Fisher, S.E.; Vissers, L.E.L.M.; Wong, M.M.K. & Kleefstra, T. (2023), Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022), Genetics in Medicine 25(11).
- Made, C. van der; Hebert, A.; Simons, A.; Schuurs-Hoeijmakers, J.; Rijssen, E. van; Reijmersdal, S. van; Zonneveld-Huijssoon, E.; Henriet, S.; Zelst-Stams, W. van; Koolen, D.; Leenders, E.; Janssen, E.; Santen, G.; Munnik, S. de; Kersten, S.; Koenen, H.; Netea, M.G.; Smeets, R.; Veerdonk, F.V. van de & Hoischen, A. (2023), Trio-based sequencing in patients with sporadic inborn errors of immunity: a retrospective cohort study, European Journal of Human Genetics 31: 437-437.
- Santen, G.W.E.; Leitch, H.G. & Cobben, J. (2022), Gene-disease relationship evidence, Human Mutation: Variation, Informatics and Disease 43(8): 1082-1088.
- Levy, M.A.; Relator, R.; McConkey, H.; Pranckeviciene, E.; Kerkhof, J.; Barat-Houari, M.; Bargiacchi, S.; Biamino, E.; Bralo, M.P.; 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.; Ostergaard, 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.; St John, M.; Thauvin-Robinet, C.; Traficante, G.; Sluijs, P.J. van der; 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: Variation, Informatics and Disease 43(11): 1609-1628.
- Boer, E. de; Yaldiz, B.; Denomme-Pichon, A.S.; Matalonga, L.; Laurie, S.; Steyaert, W.; Reuver, R. de; Gilissen, C.; Kwint, M.; Pfundt, R.; Verloes, A.; Willemsen, M.A.A.P.; Vries, B.B.A. de; Vitobello, A.; Kleefstra, T.; Vissers, L.E.L.M.; Solve-RD SNV-indel Working Grp & Solve-RD-DITF-ITHACA (2022), Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant, European Journal of Medical Genetics 65(1).
- Atmar, K.; Ruivenkamp, C.A.L.; Hooimeijer, L.; Nibbeling, E.A.R.; Eckhardt, C.L.; Huisman, E.J.; Lankester, A.C.; Bartels, M.; Santen, G.W.E.; Smiers, F.J.; Burg, M. van der & Mohseny, A.B. (2022), Diagnostic value of a protocolized in-depth evaluation of pediatric bone marrow failure, Frontiers in Immunology 13.
- Sluijs, P.J. van der; Joosten, M.; Alby, C.; Gilmore, K.; Dubourg, C.; Fradin, M.; Wang, T.Y.; Kurtz-Nelson, E.C.; Ahlers, K.P.; Arts, P.; Barnett, C.P.; Ashfaq, M.; Baban, A.; Born, M. van den; Borrie, S.; Busa, T.; Byrne, A.; Carriero, M.; Cesario, C.; Chong, K.; Dempsey, J.C.; Cueto-Gonzalez, A.M.; Diderich, K.E.M.; Doherty, D.; Farholt, S.; Gerkes, E.H.; Gorokhova, S.; Govaerts, L.C.P.; Gregersen, P.A.; Hickey, S.E.; Lefebvre, M.; Mari, F.; Martinovic, J.; Northrup, H.; O'Leary, M.; Parbhoo, K.; Patrier, S.; Popp, B.; Santos-Simarro, F.; Stoltenburg, C.; Thauvin-Robinet, C.; Thompson, E.; Vulto-van Silfhout, A.T.; Zahir, F.R.; Scott, H.S.; Earl, R.K.; Eichler, E.E.; Vora, N.L.; Wilnai, Y.; Giordano, J.L.; Wapner, R.J.; Rosenfeld, J.A.; Haak, M.C. & Santen, G.W.E. (2022), Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort, Genetics in Medicine 24(8): 1753-1760.
- Hebert, A.; Simons, A.; Schuurs-Hoeijmakers, J.H.M.; Koenen, H.J.P.M.; Zonneveld-Huijssoon, E.; Henriet, S.S.V.; Schatorje, E.J.H.; Hoppenreijs, E.P.A.H.; Leenders, E.K.S.M.; Janssen, E.J.M.; Santen, G.W.E.; Munnik, S.A. de; Reijmersdal, S.V. van; Rijssen, E. van; Kersten, S.; Netea, M.G.; Smeets, R.L.; Veerdonk, F.L. van de; Hoischen, A. & Made, C.I. van der (2022), Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study, eLife 11.
- Boer, E. de; Ockeloen, C.W.; Kampen, R.A.; Hampstead, J.E.; Dingemans, A.J.M.; Rots, D.; Lutje, L.; Ashraf, T.; Baker, R.; Barat-Houari, M.; Angle, B.; Chatron, N.; Denomme-Pichon, A.S.; Devinsky, O.; Dubourg, C.; Elmslie, F.; Elloumi, H.Z.; Faivre, L.; Fitzgerald-Butt, S.; Genevieve, D.; Goos, J.A.C.; Helm, B.M.; Kini, U.; Lasa-Aranzasti, A.; Lesca, G.; Lynch, S.A.; Mathijssen, I.M.J.; McGowan, R.; Monaghan, K.G.; Odent, S.; Pfundt, R.; Putoux, A.; Reeuwijk, J. van; Santen, G.W.E.; Sasaki, E.; Sorlin, A.; Spek, P.J. van der; Stegmann, A.P.A.; Swagemakers, S.M.A.; Valenzuela, I.; Viora-Dupont, E.; Vitobello, A.; Ware, S.M.; Weber, M.; Gilissen, C.; Low, K.J.; Fisher, S.E.; Vissers, L.E.L.M.; Wong, M.M.K. & Kleefstra, T. (2022), Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein, Genetics in Medicine 24(10): 2051-2064.
- Sluijs, P.J. van der; Alders, M.; Dingemans, A.; Gerkes, E.; Bon, B.W. van; Dempsey, J.C.; Doherty, D.; Miller, I.; Rosenfeld, J.A.; Moortgat, S.; Parbhoo, K.; Pastore, M.; Regier, D.; Schmalz, B.; Smol, T.; Stuurman, K.E.; Vries, B.B.A. de; Hickey, S.E.; Maystadt, I. & Santen, G.W.E. (2022), Inherited ARID1B variants: evidence of nonpathogenicity or variable expression?, European Journal of Human Genetics 30(SUPPL 1): 230-230.
- Levy, M.A.; McConkey, H.; Kerkhof, J.; Barat-Houari, M.; Bargiacchi, S.; Biamino, E.; Cappuccio, G.; Ciolfi, A.; Clarke, A.; DuPont, B.R.; Elting, M.W.; Faivre, L.; Fee, T.; Fletcher, R.S.; Cherik, 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.; Ostergaard, E.; Pallares, N.R.; Piccione, M.; Pizzi, S.; Plomp, A.S.; Poulton, C.; Reilly, J.; Relator, R.; Rius, R.; Robertson, S.; Rooney, K.; Rousseau, J.; Santen, G.W.E.; Santos-Simarro, F.; Schijns, J.; Squeo, G.M.; St John, M.; Thauvin-Robinet, C.; Traficante, G.; Sluijs, P.J. van der; Vergano, S.A.; Vos, N.; Walden, K.K.; Azmanov, D.; Balci, T.; 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.; Christodoulou, J.; Dyment, D.; Esber, N.; Fahrner, J.A.; Fleming, M.D.; Genevieve, D.; Kerrnohan, K.D.; McNeill, A.; Menke, L.A.; Merla, G.; Prontera, P.; Rockman-Greenberg, C.; Schwartz, C.; Skinner, S.A.; Stevenson, R.E.; Vitobello, A.; Tartaglia, M.; Alders, M.; Tedder, M.L. & Sadikovic, B. (2022), Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders, Human Genetics and Genomics Advances 3(1): 100075.
- Alehashemi, S.; Jesus, A.A. de; Papendorf, J.J.; Bhuyan, F.; Uss, K.; Metpally, A.; Lin, B.; Park, S.; Moura, T.C.L.; Dias, R.R.; Dorna, M.B.; Kozu, K.; Sallum, A.; Campos, L.M.A.; Santen, G.; Kers, J.; Teng, O.; Palmblad, K.; Huizinga, T.; Ebstein, F.; Kruger, E. & Goldbach-Mansky, R. (2022), A De Novo Dominant-negative PSMB8 mutation is Linked to a More Severe CANDLE-like Phenotype, Arthritis & Rheumatology 74: 3826-3828.
- Koene, S.; Knijnenburg, J.; Hoffer, M.J.V.; Zwanenburg, F.; Haak, M.C.; Locher, H.; Beelen, E.S.A. van; Santen, G.W.E. & Rotteveel, L.J.C. (2022), Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1, The American Journal of Medical Genetics - Part A 188A.
- Nisselrooij, A.E.L. van; Aten, E.; Santen, G.W.E. & Haak, M.C. (2021), Correspondence on "The prevalence of genetic diagnoses in fetuses with severe congenital heart defects" by Nisselrooij et al. Response.
- Koning, M.A. de; Hoffer, M.J.V.; Nibbeling, E.A.R.; Bijlsma, E.K.; Toirkens, M.J.P.; Adama-Scheltema, P.N.; Verweij, E.J.; Veenhof, M.B.; Santen, G.W.E. & Peeters-Scholte, C.M.P.C.D. (2021), Prenatal exome sequencing, Clinical Genetics 101(1).
- Youssef Elhaji 1, Tessa M A van Henten 2, Claudia A L Ruivenkamp 3, Mathew Nightingale 4, Gijs We Santen 3, Lydia E Vos 2 & Peter R Hull 1 (2021), Two SMARCAD1 variants causing Basan syndrome in a Canadian and a Dutch family, JID innovations 1(3).
- Pagliaroli, L.; Porazzi, P.; Curtis, A.T.; Scopa, C.; Mikkers, H.M.M.; Freund, C.; Daxinger, L.; Deliard, S.; Welsh, S.A.; Offley, S.; Ott, C.A.; Calabretta, B.; Brugmann, S.A.; Santen, G.W.E. & Trizzino, M. (2021), Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders, Nature Communications 12(1).
- Rizzuto, V.; Koopmann, T.T.; Blanco-Alvarez, A.; Tazon-Vega, B.; Idrizovic, A.; Heredia, C.D. de; Orbe, R. del; Pampliega, M.V.; Velasco, P.; Beneitez, D.; Santen, G.W.E.; Waisfisz, Q.; Elting, M.; Smiers, F.J.W.; Pagter, A.J. de; Kerkhoffs, J.L.H.; Harteveld, C.L. & Manu-Pereira, M.D. (2021), Usefulness of NGS for diagnosis of dominant beta-thalassemia and unstable hemoglobinopathies in five clinical cases, Frontiers in Physiology 12.
- Kruizinga, M.D.; Zuiker, R.G.J.A.; Bergmann, K.R.; Egas, A.C.; Cohen, A.F.; Santen, G.W.E. & Esdonk, M.J. van (2021), Population pharmacokinetics of clonazepam in saliva and plasma, British Journal of Clinical Pharmacology 88(5).
- Kushary, S.T.; Revah-Politi, A.; Barua, S.; Ganapathi, M.; Accogli, A.; Aggarwal, V.; Brunetti-Pierri, N.; Cappuccio, G.; Capra, V.; Fagerberg, C.R.; Gazdagh, G.; Guzman, E.; Hadonou, M.; Harrison, V.; Havelund, K.; Iancu, D.; Kraus, A.; Lippa, N.C.; Mansukhani, M.; McBrian, D.; McEntagart, M.; Pacio-Miguez, M.; Palomares-Bralo, M.; Pottinger, C.; Ruivenkamp, C.A.L.; Sacco, O.; Santen, G.W.E.; Santos-Simarro, F.; Scala, M.; Short, J.; Sorensen, K.P.; Woods, C.G.; Yeboa, K.A.; DDD Study & TUDP Consortium (2021), ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature, American Journal of Medical Genetics Part A.
- Schrier Vergano S, Santen G, Wieczorek D, Wollnik B, Matsumoto N & Deardorff MA. (2021), Coffin-Siris Syndrome.
- Lahrouchi, N.; Postma, A.V.; Salazar, C.M.; Laughter, D.M. de; Tjong, F.; Piherova, L.; Bowling, F.Z.; Zimmerman, D.; Lodder, E.M.; Ta-Shma, A.; Perles, Z.; Beekman, L.; Ilgun, A.; Gunst, Q.; Hababa, M.; Skoric-Milosavljevic, D.; Stranecky, V.; Tomek, V.; Knijff, P. de; Leeuw, R. de; Robinson, J.Y.; Burn, S.C.; Mustafa, H.; Ambrose, M.; Moss, T.; Jacober, J.; Niyazov, D.M.; Wolf, B.; Kim, K.H.; Cherny, S.; Rousounides, A.; Aristidou-Kallika, A.; Tanteles, G.; Ange-Line, B.; Denomme-Pichon, A.S.; Francannet, C.; Ortiz, D.; Haak, M.C.; Harkel, A.D.J. ten; Manten, G.T.R.; Dutman, A.C.; Bouman, K.; Magliozzi, M.; Radio, F.C.; Santen, G.W.E.; Herkert, J.C.; Brown, H.A.; Elpeleg, O.; Hoff, M.J.B. van den; Mulder, B.; Airola, M.V.; Kmoch, S.; Barnett, J.V.; Clur, S.A.; Frohman, M.A. & Bezzina, C.R. (2021), Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy, Journal of Clinical Investigation 131(5).
- Levy, M.A.; Beck, D.B.; Metcalfe, K.; Douzgou, S.; Sithambaram, S.; Cottrell, T.; Ansar, M.; Kerkhof, J.; Mignot, C.; Nougues, M.C.; Keren, B.; Moore, H.W.; Oegema, R.; Giltay, J.C.; Simon, M.; Jaarsveld, R.H. van; Bos, J.; Haelst, M. van; Motazacker, M.M.; Boon, E.M.J.; Santen, G.W.E.; Ruivenkamp, C.A.L.; Alders, M.; Luperchio, T.R.; Boukas, L.; Ramsey, K.; Narayanan, V.; Schaefer, G.B.; Bonasio, R.; Doheny, K.F.; Stevenson, R.E.; Banka, S.; Sadikovic, B. & Fahrner, J.A. (2021), Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (vol 6, 92, 2021), npj Genomic Medicine 6(1).
- Sluijs, P.J. van der; Alders, M.; Dingemans, A.J.M.; Parbhoo, K.; Bon, B.W. van; Dempsey, J.C.; Doherty, D.; Dunnen, J.T. den; Gerkes, E.H.; Milller, I.M.; Moortgat, S.; Regier, D.S.; Ruivenkamp, C.A.L.; Schmalz, B.; Smol, T.; Stuurman, K.E.; Vincent-Delorme, C.; Vries, B.B.A. de; Sadikovic, B.; Hickey, S.E.; Rosenfeld, J.A.; Maystadt, I. & Santen, G.W.E. (2021), A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria, Genes 12(8).
- Dijk, F.S. van; Semler, O.; Etich, J.; Kohler, A.; Jimenez-Estrada, J.A.; Bravenboer, N.; Claeys, L.; Riesebos, E.; Gegic, S.; Piersma, S.R.; Jimenez, C.R.; Waisfisz, Q.; Flores, C.L.; Nevado, J.; Harsevoort, A.J.; Janus, G.J.M.; Franken, A.A.M.; Sar, A.M. van der; Meijers-Heijboer, H.; Heath, K.E.; Lapunzina, P.; Nikkels, P.G.J.; Santen, G.W.E.; Nuchel, J.; Plomann, M.; Wagener, R.; Rehberg, M.; Hoyer-Kuhn, H.; Eekhoff, E.M.W.; Pals, G.; Morgelin, M.; Newstead, S.; Wilson, B.T.; Ruiz-Perez, V.L.; Maugeri, A.; Netzer, C.; Zaucke, F. & Micha, D. (2020), Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2, American Journal of Human Genetics 107(5): 989-999.
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