From Genomics and Gene Regulation towards improved diagnostics and Precision Medicine in Developmental and Epileptic Encephalopathy

Titel: Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Auteur: Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC,
Magazine: American Journal of Human Genetics
Begin- en eindpagina: 1206-1221
Link: https://www.cell.com/ajhg/fulltext/S0002-9297(24)00160-5?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0002929724001605%3Fshowall%3Dtrue

Titel: Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Auteur: Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ.
Magazine: Sci Rep .
Begin- en eindpagina: 6917-6917
Link: https://www.nature.com/articles/s41598-024-57061-7

Titel: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Auteur: Caroline Nava # 1 2 3, Benjamin Cogne # 4 5 6, Amandine Santini # 7, Elsa Leitão 8, François Lecoquierre 4 9, Yuyang Chen 10 11, Sarah L Stenton 12 13, Thomas Besnard 5 6, Solveig Heide 14, Sarah Baer 15 16, Abhilasha Jakhar 17 18, Sonja Neuser 19, Boris Keren 14 4, Anne Faudet 14, Sylvie Forlani 20, Marie Faoucher 4 21 22 23, Kevin Uguen 4 24 25, Konrad Platzer 19, Alexandra Afenjar 26, Jean-Luc Alessandri 27, Stephanie Andres 28, Chloé Angelini 29, Bernard Aral 23 30, Benoit Arveiler 29 31,
Magazine: Nature Genetics
Begin- en eindpagina: 1374-1388
Link: https://www.nature.com/articles/s41588-025-02184-4

Titel: BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing
Auteur: Venema M, Albuainain F, Schot R, Roozenbeek B, Sleutels F, van Ham T, Barakat TS.
Magazine: Clinical Genetics
Begin- en eindpagina: 341-347
Link: https://onlinelibrary.wiley.com/doi/10.1111/cge.14650

Titel: The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
Auteur: Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z.
Magazine: Clin Genet .
Begin- en eindpagina: 574-584
Link: https://onlinelibrary.wiley.com/doi/10.1111/cge.14587

Titel: Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Auteur: Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isid
Magazine: Genet Med
Begin- en eindpagina: 101348-101348
Link: https://www.gimjournal.org/article/S1098-3600(24)00282-X/fulltext

Titel: Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies
Auteur: Lubin EE, Gonzalez EM, Sangree AK, Durham EL, Klinkhammer H, Li JM, Smith SM, Layo-Carris DE, Clark KJ, Melendez-Perez AJ, Wang XM, Angireddy R, Weiss EE, Barakat TS, Mercier S, Cogné B, Koene S, Hilhorst-Hofstee Y, Rydzanicz M, Ploski R, de Los Ángeles Gómez Cano M, Palomares-Bralo M, Arévalo TB, Tan TY, Gallacher L, MacFarland SP, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJK.
Magazine: HGG Adv
Begin- en eindpagina: 100440-100440
Link: https://www.cell.com/hgg-advances/fulltext/S2666-2477(25)00043-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2666247725000430%3Fshowall%3Dtrue

Titel: Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Auteur: Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS.
Magazine: European Journal of Human Genetics
Begin- en eindpagina: 350-356
Link: https://www.nature.com/articles/s41431-023-01530-6

Titel: Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Auteur: Greene D, De Wispelaere K, Lees J, Codina-Solà M, Jensson BO, Hales E, Katrinecz A, Nieto Molina E, Pascoal S, Pfundt R, Schot R, Sevilla Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat Rodríguez A, Fernández Garoz B, Foulds N, García-Navas Núñez D, González Alguacil E, Jarvis J, Kant SG, Madrigal Bajo I, Martinez-Monseny AF, McKee S, Ortiz Cabrera NV, Rodríguez-Revenga Bodi L, Sariego Jamardo A, Stefansson K, Sulem P, Suri M, Va
Magazine: Nature Genetics
Begin- en eindpagina: 1367-1373
Link: https://www.nature.com/articles/s41588-025-02159-5

Titel: USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms
Auteur: Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T
Magazine: Life Sci Alliance .
Begin- en eindpagina: 202302258-202302258
Link: https://www.life-science-alliance.org/content/7/3/e202302258

Titel: BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements
Auteur: View ORCID ProfileRuizhi Deng, View ORCID ProfileElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, View ORCID ProfileKristina Lanko, Rachel Schot, Michela Maresca, Eva Medico-Salsench, Leslie E. Sanderson, Michael J. Parker, Wilfred F.J. van Ijcken, Joohyun Park, Marc Sturm, View ORCID ProfileTobias B. Haack, Genomics England Research Consortium, Gennady V Roshchupkin, Eskeatnaf Mulugeta, View ORCID ProfileTahsin Stefan Barakat
Magazine: medrxiv (preprint)
Begin- en eindpagina: 1-1
Link: https://www.medrxiv.org/content/10.1101/2024.04.13.24305761v2

Titel: Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Auteur: Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C,
Magazine: J Med Genet .
Begin- en eindpagina: 824-832
Link: https://pubmed.ncbi.nlm.nih.gov/38849204/

Titel: https://onlinelibrary.wiley.com/doi/10.1111/cge.14574
Auteur: Schot R, Ferraro F, Geeven G, Diderich KEM, Barakat TS.
Magazine: Clinical Genetics
Begin- en eindpagina: 512-517
Link: https://onlinelibrary.wiley.com/doi/10.1111/cge.14574

Titel: Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Auteur: Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Wa
Magazine: NPJ Genom Med .
Begin- en eindpagina: 18-28
Link: https://www.nature.com/articles/s41525-024-00398-9

Titel: CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
Auteur: van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van
Magazine: HGG Adv
Begin- en eindpagina: 100380-100380
Link: https://www.cell.com/hgg-advances/fulltext/S2666-2477(24)00120-9?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2666247724001209%3Fshowall%3Dtrue

Titel: KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
Auteur: Amber S E van Oirsouw 1 2 3, Michael A Hadders 4, Martijn Koetsier 3, Edith D J Peters 3, Nurit Assia Batzir 5, Tahsin Stefan Barakat 6, Diana Baralle 7, Adelyn Beil 8, Marie-Noëlle Bonnet-Dupeyron 9, Philip M Boone 10, Arjan Bouman 6, Deanna Alexis Carere 11, Benjamin Cogne 12, Leslie Dunnington 13, Laura S Farach 13, Casie A Genetti 10 14, Bertrand Isidor 12, Louis Januel 15, Aakash Joshi 16, Nayana Lahiri 16, Kristen N Lee 8, Idit Maya 17 18, Meriel McEntagart 16, Hope Northrup 13, Mathilde
Magazine: Hum Mol Genet .
Begin- en eindpagina: 1-1
Link: https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddaf082/8150966?login=false#521563986

Titel: AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Auteur: Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A
Magazine: Acta Neuropathologica
Begin- en eindpagina: 353-368
Link: https://link.springer.com/article/10.1007/s00401-023-02579-9