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For: Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clin Genet 2021;100:14-28. [PMID: 33619735 DOI: 10.1111/cge.13946] [Cited by in Crossref: 23] [Cited by in F6Publishing: 24] [Article Influence: 23.0] [Reference Citation Analysis]
Number Citing Articles
1 Ben-mahmoud A, Jun KR, Gupta V, Shastri P, de la Fuente A, Park Y, Shin KC, Kim CA, da Cruz AD, Pinto IP, Minasi LB, Silva da Cruz A, Faivre L, Callier P, Racine C, Layman LC, Kong I, Kim C, Kim W, Kim H. A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders. Front Mol Neurosci 2022;15:979061. [DOI: 10.3389/fnmol.2022.979061] [Reference Citation Analysis]
2 Mastropasqua F, Oksanen M, Soldini C, Alatar S, Arora A, Ballarino R, Molinari M, Agostini F, Poulet A, Watts M, Rabkina I, Becker M, Li D, Anderlid B, Isaksson J, Remnelius KL, Moslem M, Jacob Y, Falk A, Crosetto N, Bienko M, Santini E, Borgkvist A, Bölte S, Tammimies K. Deficiency of Heterogeneous Nuclear Ribonucleoprotein U leads to delayed neurogenesis.. [DOI: 10.1101/2022.09.14.507275] [Reference Citation Analysis]
3 Williams HJ, Odhams C, Genomics England Research Consortium. Improved diagnosis of rare disease patients through application of constrained coding region annotation and de novo status.. [DOI: 10.1101/2022.08.19.22278944] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Svorenova T, Romito LM, Colangelo I, Han V, Jech R, Prokisch H, Winkelmann J, Skorvanek M, Garavaglia B, Zech M. Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism & Related Disorders 2022. [DOI: 10.1016/j.parkreldis.2022.07.026] [Reference Citation Analysis]
5 Dzinovic I, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Pavelekova P, Havránková P, Tsoma E, Indelicato E, Runkel E, Held V, Weise D, Janzarik W, Eckenweiler M, Berweck S, Mall V, Haslinger B, Jech R, Winkelmann J, Zech M. Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. Parkinsonism Relat Disord 2022;102:1-6. [PMID: 35872528 DOI: 10.1016/j.parkreldis.2022.07.003] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Dai P, Honda A, Ewans L, McGaughran J, Burnett L, Law M, Phan TG. Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis. Genet Med 2022:S1098-3600(22)00750-X. [PMID: 35550369 DOI: 10.1016/j.gim.2022.04.021] [Reference Citation Analysis]
7 Hebert A, Simons A, Schuurs-hoeijmakers JH, Koenen HJ, Zonneveld-huijssoon E, Henriet SS, Schatorjé EJ, Hoppenreijs EP, Leenders EK, Janssen EJ, Santen GW, de Munnik SA, van Reijmersdal SV, van Rijssen E, Kersten S, Netea MG, Smeets RL, van de Veerdonk FL, Hoischen A, van der Made CI. Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study.. [DOI: 10.1101/2022.03.30.22272929] [Reference Citation Analysis]
8 Garavaglia B, Vallian S, Romito LM, Straccia G, Capecci M, Invernizzi F, Andrenelli E, Kazemi A, Boesch S, Kopajtich R, Olfati N, Shariati M, Shoeibi A, Sadr-Nabavi A, Prokisch H, Winkelmann J, Zech M. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat Disord 2022;97:52-6. [PMID: 35306330 DOI: 10.1016/j.parkreldis.2022.03.007] [Reference Citation Analysis]
9 Cummings CT, Rowley MJ. Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment. Genes 2022;13:583. [DOI: 10.3390/genes13040583] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
10 Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep 2022;38:110517. [PMID: 35294868 DOI: 10.1016/j.celrep.2022.110517] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 6.0] [Reference Citation Analysis]
11 Westphal DS, Mastantuono E, Seidel H, Riedhammer KM, Hahn A, Vill K, Wagner M. There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome. Gene 2022;814:146167. [PMID: 34995729 DOI: 10.1016/j.gene.2021.146167] [Reference Citation Analysis]
12 Kolarova H, Tan J, Strom TM, Meitinger T, Wagner M, Klopstock T. Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. EBioMedicine 2022;77:103869. [PMID: 35180557 DOI: 10.1016/j.ebiom.2022.103869] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
13 Popp B, Brugger M, Poschmann S, Bartolomaeus T, Radtke M, Hentschel J, Di Donato N, Rump A, Gburek-augustat J, Graf E, Wagner M, Lemke J, Meitinger T, Jamra RA, Strehlow V, Brunet T. A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2.. [DOI: 10.1101/2022.02.23.22271353] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
14 Xiang J, Ding Y, Yang F, Gao A, Zhang W, Tang H, Mao J, He Q, Zhang Q, Wang T. Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing. Front Genet 2021;12:738561. [PMID: 34858471 DOI: 10.3389/fgene.2021.738561] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat Disord 2021;94:54-61. [PMID: 34890876 DOI: 10.1016/j.parkreldis.2021.11.030] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
16 van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Barakat TS, Bebin EM, Beck-wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BB, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome.. [DOI: 10.1101/2021.10.04.21264162] [Reference Citation Analysis]
17 Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Mov Disord 2021. [PMID: 34596301 DOI: 10.1002/mds.28804] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
18 Ebstein F, Küry S, Papendorf JJ, Krüger E. Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis. Front Mol Neurosci 2021;14:733012. [PMID: 34566579 DOI: 10.3389/fnmol.2021.733012] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 5.0] [Reference Citation Analysis]
19 Pode-Shakked B, Barel O, Singer A, Regev M, Poran H, Eliyahu A, Finezilber Y, Segev M, Berkenstadt M, Yonath H, Reznik-Wolf H, Gazit Y, Chorin O, Heimer G, Gabis LV, Tzadok M, Nissenkorn A, Bar-Yosef O, Zohar-Dayan E, Ben-Zeev B, Mor N, Kol N, Nayshool O, Shimshoviz N, Bar-Joseph I, Marek-Yagel D, Javasky E, Einy R, Gal M, Grinshpun-Cohen J, Shohat M, Dominissini D, Raas-Rothschild A, Rechavi G, Pras E, Greenbaum L. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies. Sci Rep 2021;11:19099. [PMID: 34580403 DOI: 10.1038/s41598-021-98646-w] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
20 Schwaibold EMC, Brugger M, Wagner M. A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia. Clin Genet 2021;100:489-90. [PMID: 34313322 DOI: 10.1111/cge.14034] [Reference Citation Analysis]