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For: Volk A, Conboy E, Wical B, Patterson M, Kirmani S. Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. Mol Syndromol 2015;6:23-31. [PMID: 25852444 DOI: 10.1159/000371598] [Cited by in Crossref: 21] [Cited by in F6Publishing: 14] [Article Influence: 3.0] [Reference Citation Analysis]
Number Citing Articles
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6 Pavey AR, Vilboux T, Babcock HE, Ahronovich M, Solomon BD. X-Linked Candidate Genes for a Ciliopathy-Like Disorder. Mol Syndromol 2016;7:37-42. [PMID: 27194972 DOI: 10.1159/000444666] [Reference Citation Analysis]
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12 Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. Graefes Arch Clin Exp Ophthalmol 2015;253:2239-46. [PMID: 26464178 DOI: 10.1007/s00417-015-3174-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
13 Quinlan-jones E, Hillman SC, Kilby MD, Greenfield SM. Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly. Prenatal Diagnosis 2017;37:1225-31. [DOI: 10.1002/pd.5172] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 3.6] [Reference Citation Analysis]
14 Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V; Undiagnosed Diseases Network. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med 2021;23:259-71. [PMID: 33093671 DOI: 10.1038/s41436-020-00984-z] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
15 Ali Khan I. Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus? Heliyon 2021;7:e07903. [PMID: 34584998 DOI: 10.1016/j.heliyon.2021.e07903] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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17 Alhashem AM, Almohaid MS, Alanazi L, Alhabardi H. Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome. Cureus 2020;12:e6778. [PMID: 32010537 DOI: 10.7759/cureus.6778] [Reference Citation Analysis]
18 Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate. Ital J Pediatr 2020;46:74. [PMID: 32460883 DOI: 10.1186/s13052-020-00839-y] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
19 Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD. Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations. J Mol Diagn 2020;22:1041-9. [PMID: 32497716 DOI: 10.1016/j.jmoldx.2020.05.007] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
20 Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet 2017;13:e1006683. [PMID: 28346496 DOI: 10.1371/journal.pgen.1006683] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 3.2] [Reference Citation Analysis]
21 Hellmund A, Berg C, Geipel A, Müller A, Gembruch U. Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. Arch Gynecol Obstet 2016;294:697-707. [DOI: 10.1007/s00404-016-4017-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 12] [Article Influence: 2.8] [Reference Citation Analysis]