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For: Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. Eur J Hum Genet 2021;29:141-53. [PMID: 32860008 DOI: 10.1038/s41431-020-00713-9] [Cited by in Crossref: 26] [Cited by in F6Publishing: 29] [Article Influence: 13.0] [Reference Citation Analysis]
Number Citing Articles
1 Ng KWP, Chin H, Chin AXY, Goh DL. Using gene panels in the diagnosis of neuromuscular disorders: A mini-review. Front Neurol 2022;13:997551. [DOI: 10.3389/fneur.2022.997551] [Reference Citation Analysis]
2 Castilla-vallmanya L, Centeno-pla M, Serrano M, Franco-valls H, Martínez-cabrera R, Prat-planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. J Med Genet. [DOI: 10.1136/jmg-2022-108690] [Reference Citation Analysis]
3 Ruscitti F, Cerminara M, Iascone M, Pezzoli L, Rosti G, Romano F, Ronchetto P, Martucciello G, Buratti S, Buffelli F, Bocciardi R, Puliti A, Divizia MT. An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene. Birth Defects Res 2022. [PMID: 35751431 DOI: 10.1002/bdr2.2065] [Reference Citation Analysis]
4 Potrony M, Borrell A, Masoller N, Nadal A, Rodriguez-carunchio L, Saez de Gordoa Elizalde K, Quesada-espinosa JF, Villanueva-cañas JL, Pauta M, Jodar M, Madrigal I, Badenas C, Alvarez-mora MI, Rodriguez-revenga L. Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review. JCM 2022;11:3570. [DOI: 10.3390/jcm11133570] [Reference Citation Analysis]
5 Kozak I, Ali SM, Hoque N, Lin D, Bosley TM. Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review. Neuro-Ophthalmology. [DOI: 10.1080/01658107.2022.2072517] [Reference Citation Analysis]
6 Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA). Orphanet J Rare Dis 2022;17:210. [PMID: 35606766 DOI: 10.1186/s13023-022-02365-y] [Reference Citation Analysis]
7 Castilla-vallmanya L, Centeno-pla M, Serrano M, Franco-valls H, Martínez-cabrera R, Prat-planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-fuentes AJ, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.. [DOI: 10.1101/2022.05.04.22274475] [Reference Citation Analysis]
8 Nurchis MC, Riccardi MT, Radio FC, Chillemi G, Bertini ES, Tartaglia M, Cicchetti A, Dallapiccola B, Damiani G. Incremental net benefit of Whole Genome Sequencing for newborns and children with suspected genetic disorders: systematic review and meta-analysis of cost-effectiveness evidence. Health Policy 2022. [DOI: 10.1016/j.healthpol.2022.03.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
9 Rehm HL. Time to make rare disease diagnosis accessible to all. Nat Med. [DOI: 10.1038/s41591-021-01657-3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
10 Aleissa M, Aloraini T, Alsubaie LF, Hassoun M, Abdulrahman G, Swaid A, Eyaid WA, Mutairi FA, Ababneh F, Alfadhel M, Alfares A. Common disease-associated gene variants in a Saudi Arabian population. Ann Saudi Med 2022;42:29-35. [PMID: 35112591 DOI: 10.5144/0256-4947.2022.29] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
11 McNeill A. 2021 at European Journal of Human Genetics: the year in review. Eur J Hum Genet 2022;30:3-4. [PMID: 34992228 DOI: 10.1038/s41431-021-01009-2] [Reference Citation Analysis]
12 Al-Hamed MH, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer JA, Imtiaz F. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes. Hum Genet 2021. [PMID: 34853893 DOI: 10.1007/s00439-021-02406-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
13 Mcnulty SM, Cole Y, Powell BC, Rentas S. Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome Sequencing. Advances in Molecular Pathology 2021;4:1-15. [DOI: 10.1016/j.yamp.2021.07.001] [Reference Citation Analysis]
14 Vakirlis N, Duggan KM, Mclysaght A. De novo birth of functional, human-specific microproteins.. [DOI: 10.1101/2021.10.01.462744] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
15 Eichinger J, Elger BS, Koné I, Filges I, Shaw D, Zimmermann B, McLennan S. The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review. BMC Pediatr 2021;21:387. [PMID: 34488686 DOI: 10.1186/s12887-021-02830-w] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
16 Szűcs Z, Fitala R, Nyuzó ÁR, Fodor K, Czemmel É, Vrancsik N, Bessenyei M, Szabó T, Szakszon K, Balogh I. Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary. Genes (Basel) 2021;12:1331. [PMID: 34573312 DOI: 10.3390/genes12091331] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
17 Walker S, Lamoureux S, Khan T, Joynt ACM, Bradley M, Branson HM, Carter MT, Hayeems RZ, Jagiello L, Marshall CR, Meyn MS, Miller SP, Wilson D, Scherer SW, Blaser S, Mireskandari K, Costain G. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. Am J Med Genet A 2021. [PMID: 34159711 DOI: 10.1002/ajmg.a.62389] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
18 Hays T, Wapner RJ. Genetic testing for unexplained perinatal disorders. Curr Opin Pediatr 2021;33:195-202. [PMID: 33605625 DOI: 10.1097/MOP.0000000000000999] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
19 Pozojevic J, Beetz C, Westenberger A. The importance of genetic testing for dystonia patients and translational research. J Neural Transm (Vienna) 2021;128:473-81. [PMID: 33876307 DOI: 10.1007/s00702-021-02329-9] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
20 Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. Genet Med 2021;23:1551-68. [PMID: 33875846 DOI: 10.1038/s41436-021-01159-0] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 8.0] [Reference Citation Analysis]
21 Wong HH, Seet SH, Maier M, Traspas RM, Lee C, Shan Z, Loh AYT, Chia CY, Teoh TS, Sng D, Cepni E, Nathan FM, Sirota FL, Chao L, Tadahiro M, Mbarek H, Georgiadou D, Sotiropoulou K, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Boisson B, Xue S, Kayserili H, Zaki M, Isfort RJ, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova J, Maurer-stroh S, Bertoli-avella A, Mathuru AS, Ho L, Bard F, Reversade B. Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish.. [DOI: 10.1101/2021.03.31.21253863] [Reference Citation Analysis]
22 Battke F, Schulte B, Schulze M, Biskup S. The question of WGS's clinical utility remains unanswered. Eur J Hum Genet 2021;29:722-3. [PMID: 33597733 DOI: 10.1038/s41431-021-00823-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
23 Bertoli-Avella AM, Beetz C, Ameziane N, Bauer P. Reply letter to Battke et al. Eur J Hum Genet 2021;29:724-5. [PMID: 33597734 DOI: 10.1038/s41431-021-00819-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]