BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med 2018;20:630-8. [PMID: 29758562 DOI: 10.1038/gim.2017.159] [Cited by in Crossref: 51] [Cited by in F6Publishing: 59] [Article Influence: 10.2] [Reference Citation Analysis]
Number Citing Articles
1 Zhang R, Jia P, Yao Y, Zhu F. Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH. Front Genet 2022;13:933785. [DOI: 10.3389/fgene.2022.933785] [Reference Citation Analysis]
2 Huang X, Li XL, Liu FY, Li H, Zhou H, Li XM. Hypertension and brachydactyly syndrome: a further case report. Clin Dysmorphol 2022. [PMID: 35762486 DOI: 10.1097/MCD.0000000000000424] [Reference Citation Analysis]
3 Singh K, Puri RD, Bijarnia-mahay S, Lall M, Verma J, Saxena R, Kohli S, Thomas D, Saviour P, Verma IC. Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India. Indian Pediatr 2022;59:463-6. [DOI: 10.1007/s13312-022-2537-y] [Reference Citation Analysis]
4 Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst-schwan T, Ekici AB, Uebe S, Wenzel A, Schliep S, Schürfeld C, Seitz R, Bernhardt W, Gödel M, Wiesener A, Popp B, Stark KJ, Gröne H, Friedrich B, Weiß M, Basic-jukic N, Schiffer M, Schröppel B, Huettel B, Beck BB, Sayer JA, Ziegler C, Büttner-herold M, Amann K, Heid IM, Reis A, Pasutto F, Wiesener MS. Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney International 2022. [DOI: 10.1016/j.kint.2022.04.031] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
5 Willems M, Amouroux C, Barat-houari M, Salles J, Edouard T. Exploring the genetic causes of isolated short stature. What has happened to idiopathic short stature? Archives de Pédiatrie 2022;28:28/8S27-32. [DOI: 10.1016/s0929-693x(22)00040-9] [Reference Citation Analysis]
6 Savage MO, Storr HL. Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches. Ann Pediatr Endocrinol Metab 2021;26:218-26. [PMID: 34991299 DOI: 10.6065/apem.2142208.104] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
7 Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Clinical profiles and genetic spectra of 814 Chinese children with short stature. J Clin Endocrinol Metab 2021:dgab863. [PMID: 34850017 DOI: 10.1210/clinem/dgab863] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
8 Corripio-Collado R, Fernández-Ramos C, González-Casado I, Moreno-Macián F, López-Siguero JP, Labarta-Aizpún JI. Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study. J Endocrinol Invest 2021. [PMID: 34791604 DOI: 10.1007/s40618-021-01696-0] [Reference Citation Analysis]
9 Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet 2021;65:104399. [PMID: 34793962 DOI: 10.1016/j.ejmg.2021.104399] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
10 Ahn J, Oh J, Suh J, Song K, Kwon A, Chae HW, Oh JS, Lee HI, Lee MS, Kim HS. Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients. Mol Cell Endocrinol 2021;:111489. [PMID: 34653508 DOI: 10.1016/j.mce.2021.111489] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
11 Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, Gall K, Valo S, Huusko JM, Tallila J, Sistonen J, Koskenvuo J, Alastalo TP. Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia. Orphanet J Rare Dis 2021;16:412. [PMID: 34627339 DOI: 10.1186/s13023-021-02025-7] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
12 Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, Kraus C, Wilson WG, Khan S, Krumbiegel M, Ekici AB, Uebe S, Trollmann R, Woelfle J, Reis A, Vasileiou G. BDV-syndrome: An emerging syndrome with profound obesity and neurodevelopmental delay resembling Prader-Willi syndrome. J Clin Endocrinol Metab 2021:dgab592. [PMID: 34383079 DOI: 10.1210/clinem/dgab592] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
13 Li Q, Xu Z, Zhang M, Zhao Z, Sun B, Yang L, Lu W, Luo F, Sun C. Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review. Growth Horm IGF Res 2021;60-61:101423. [PMID: 34375817 DOI: 10.1016/j.ghir.2021.101423] [Reference Citation Analysis]
14 Scalco RC, Correa FA, Dantas NCB, Vasques GA, Jorge AAL. Hormone resistance and short stature: A journey through the pathways of hormone signaling. Mol Cell Endocrinol 2021;536:111416. [PMID: 34333056 DOI: 10.1016/j.mce.2021.111416] [Reference Citation Analysis]
15 Kamil G, Yoon JY, Yoo S, Cheon CK. Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet J Rare Dis 2021;16:297. [PMID: 34217350 DOI: 10.1186/s13023-021-01937-8] [Reference Citation Analysis]
16 Giacomozzi C. Genetic Screening for Growth Hormone Therapy in Children Small for Gestational Age: So Much to Consider, Still Much to Discover. Front Endocrinol (Lausanne) 2021;12:671361. [PMID: 34122345 DOI: 10.3389/fendo.2021.671361] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
17 Gui B, Yu C, Li X, Zhao S, Zhao H, Yan Z, Cheng X, Lin J, Zheng H, Shao J, Zhao Z, Zhao L, Niu Y, Zhao Z, Wang H, Xie B, Wei X, Gui C, Li C, Chen S, Wang Y, Song Y, Gong C, Zhang TJ, Fan X, Wu Z, Chen Y, Wu N. Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature. Front Cell Dev Biol 2021;9:661747. [PMID: 33937263 DOI: 10.3389/fcell.2021.661747] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
18 Estrada K, Froelich S, Wuster A, Bauer CR, Sterling T, Clark WT, Ru Y, Trinidad M, Nguyen HP, Luu AR, Wendt DJ, Yogalingam G, Yu GK, LeBowitz JH, Cardon LR. Identifying therapeutic drug targets using bidirectional effect genes. Nat Commun 2021;12:2224. [PMID: 33850126 DOI: 10.1038/s41467-021-21843-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
19 Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z, Lupski JR, Posey JE, Chen S, Gong C, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics 2021;48:396-402. [PMID: 34006472 DOI: 10.1016/j.jgg.2021.02.008] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
20 Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C; UCLA California Center for Rare Disease. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis 2021;16:136. [PMID: 33736665 DOI: 10.1186/s13023-021-01744-1] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
21 Rapaport R, Wit JM, Savage MO. Growth failure: 'idiopathic' only after a detailed diagnostic evaluation. Endocr Connect 2021;10:R125-38. [PMID: 33543731 DOI: 10.1530/EC-20-0585] [Cited by in Crossref: 2] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
22 Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R; ACMG Professional Practice and Guidelines Committee. Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med 2021;23:813-5. [PMID: 33514815 DOI: 10.1038/s41436-020-01046-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
23 Meyer R, Begemann M, Hübner CT, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Schröder C, Kenawy A, Kroisel P, Demuth S, Fekete G, Opladen T, Elbracht M, Eggermann T. One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet J Rare Dis 2021;16:42. [PMID: 33482836 DOI: 10.1186/s13023-021-01683-x] [Cited by in Crossref: 4] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
24 Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K. Pituitary stalk interruption syndrome is characterized by genetic heterogeneity. PLoS One 2020;15:e0242358. [PMID: 33270637 DOI: 10.1371/journal.pone.0242358] [Cited by in Crossref: 2] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
25 Savage MO, Storr HL, Backeljauw PF. The continuum between GH deficiency and GH insensitivity in children. Rev Endocr Metab Disord 2021;22:91-9. [PMID: 33025383 DOI: 10.1007/s11154-020-09590-5] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
26 Rogol AD. Emotional Deprivation in Children: Growth Faltering and Reversible Hypopituitarism. Front Endocrinol (Lausanne) 2020;11:596144. [PMID: 33117295 DOI: 10.3389/fendo.2020.596144] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
27 Muthuirulan P, Capellini TD. Complex Phenotypes: Mechanisms Underlying Variation in Human Stature. Curr Osteoporos Rep 2019;17:301-23. [PMID: 31441021 DOI: 10.1007/s11914-019-00527-9] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
28 Perchard R, Murray PG, Payton A, Highton GL, Whatmore A, Clayton PE. Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW Study. J Endocr Soc 2020;4:bvaa105. [PMID: 32939436 DOI: 10.1210/jendso/bvaa105] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
29 Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C; UCLA Clinical Genomics Center. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet 2020;107:544-54. [PMID: 32730804 DOI: 10.1016/j.ajhg.2020.06.019] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
30 Cohen M, Pignatti E, Dines M, Mory A, Ekhilevitch N, Kolodny R, Flück CE, Tiosano D. In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. Int J Mol Sci 2020;21:E5857. [PMID: 32824094 DOI: 10.3390/ijms21165857] [Cited by in Crossref: 3] [Article Influence: 1.5] [Reference Citation Analysis]
31 Li X, Li Z, Chen P, Wang Y, Wang DW, Wang DW. Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report. BMC Med Genet 2020;21:144. [PMID: 32631253 DOI: 10.1186/s12881-020-01077-z] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
32 Hawkes CP, Mostoufi-Moab S, McCormack SE, Grimberg A, Zemel BS. Sitting Height to Standing Height Ratio Reference Charts for Children in the United States. J Pediatr 2020:S0022-3476(20)30754-X. [PMID: 32579888 DOI: 10.1016/j.jpeds.2020.06.051] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
33 Dauber A. Genetic Testing for the Child With Short Stature-Has the Time Come To Change Our Diagnostic Paradigm? J Clin Endocrinol Metab 2019;104:2766-9. [PMID: 30753512 DOI: 10.1210/jc.2019-00019] [Cited by in Crossref: 9] [Cited by in F6Publishing: 12] [Article Influence: 4.5] [Reference Citation Analysis]
34 Lee CG, Kang K, Yoon RG, Seo JY, Park J. PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features. European Journal of Medical Genetics 2020;63:103781. [DOI: 10.1016/j.ejmg.2019.103781] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
35 Fan P, Zhang D, Yang KQ, Zhang QY, Luo F, Lou Y, Liu YX, Zhang HM, Song L, Cai J, Wu HY, Zhou XL. Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation. Am J Hypertens 2020;33:190-7. [PMID: 31549136 DOI: 10.1093/ajh/hpz151] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
36 Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, Frey B, Hahn M, Ekici AB, Uebe S, Thiel C, Reis A, Burkhardt H, Behrens F, Köhm M, Rech J, Schett G, Assmann G, Kingo K, Kõks S, Mössner R, Prinz JC, Oji V, Schulz P, Muñoz LE, Kremer AE, Wenzel J, Hüffmeier U. Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis. J Invest Dermatol 2020;140:1451-1455.e13. [PMID: 31945348 DOI: 10.1016/j.jid.2019.11.024] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 5.5] [Reference Citation Analysis]
37 Cabrera-Salcedo C, Hawkes CP, Tyzinski L, Andrew M, Labilloy G, Campos D, Feld A, Deodati A, Hwa V, Hirschhorn JN, Grimberg A, Dauber A; the Genomics Research and Innovation Network. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. Horm Res Paediatr 2019;92:186-95. [PMID: 31865343 DOI: 10.1159/000504884] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
38 de Haan A, Eijgelsheim M, Vogt L, Knoers NVAM, de Borst MH. Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology. Front Genet 2019;10:1264. [PMID: 31921302 DOI: 10.3389/fgene.2019.01264] [Cited by in Crossref: 6] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
39 Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. J Pediatr 2019;215:192-8. [PMID: 31630891 DOI: 10.1016/j.jpeds.2019.08.024] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
40 Renes JS, van Doorn J, Hokken-Koelega ACS. Current Insights into the Role of the Growth Hormone-Insulin-Like Growth Factor System in Short Children Born Small for Gestational Age. Horm Res Paediatr 2019;92:15-27. [PMID: 31509834 DOI: 10.1159/000502739] [Cited by in Crossref: 6] [Cited by in F6Publishing: 11] [Article Influence: 2.0] [Reference Citation Analysis]
41 Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B. Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenat Diagn 2019;39:1136-47. [PMID: 31498910 DOI: 10.1002/pd.5556] [Cited by in Crossref: 2] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
42 Wit JM, Deeb A, Bin-Abbas B, Al Mutair A, Koledova E, Savage MO. Achieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy. J Clin Res Pediatr Endocrinol 2019;11:329-40. [PMID: 31284701 DOI: 10.4274/jcrpe.galenos.2019.2019.0088] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
43 Funari MFA, de Barros JS, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonca BB, Nishi MY, Jorge AAL. Evaluation of SHOX defects in the era of next-generation sequencing. Clin Genet 2019;96:261-5. [PMID: 31219618 DOI: 10.1111/cge.13587] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
44 Guo MH, Hirschhorn JN, Dauber A. Insights and Implications of Genome-Wide Association Studies of Height. J Clin Endocrinol Metab 2018;103:3155-68. [PMID: 29982553 DOI: 10.1210/jc.2018-01126] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 4.0] [Reference Citation Analysis]
45 Popp B, Agaimy A, Kraus C, Knaup KX, Ekici AB, Uebe S, Reis A, Wiesener M, Zweier C. Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. BMC Cancer 2019;19:435. [PMID: 31077186 DOI: 10.1186/s12885-019-5633-1] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
46 Nakaguma M, Correa FA, Santana LS, Benedetti AFF, Perez RV, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonca BB, Carvalho LRS, Jorge AAL, Arnhold IJP. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocr Connect 2019;8:590-5. [PMID: 30959475 DOI: 10.1530/EC-19-0085] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
47 Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PLoS Genet 2019;15:e1008088. [PMID: 31034465 DOI: 10.1371/journal.pgen.1008088] [Cited by in Crossref: 18] [Cited by in F6Publishing: 23] [Article Influence: 6.0] [Reference Citation Analysis]
48 Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T. Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome. Molecular and Cellular Probes 2019;44:1-7. [DOI: 10.1016/j.mcp.2018.12.007] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
49 Walenkamp MJE, Robers JML, Wit JM, Zandwijken GRJ, van Duyvenvoorde HA, Oostdijk W, Hokken-koelega ACS, Kant SG, Losekoot M. Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor. The Journal of Clinical Endocrinology & Metabolism 2019;104:3157-71. [DOI: 10.1210/jc.2018-02065] [Cited by in Crossref: 15] [Cited by in F6Publishing: 26] [Article Influence: 5.0] [Reference Citation Analysis]
50 Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT. Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Eur J Hum Genet 2019;27:1061-71. [PMID: 30809043 DOI: 10.1038/s41431-019-0362-0] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
51 Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, Hadjihannas M, Vasileiou G, Thiel CT, Seven D, Uebe S, Ilencikova D, Waanders E, Mavinkurve-Groothuis AMC, Roeleveld N, de Krijger RR, Wegert J, Graf N, Vokuhl C, Agaimy A, Gessler M, Reis A, Kuiper RP, Jongmans MCJ, Metzler M. TRIM28 haploinsufficiency predisposes to Wilms tumor. Int J Cancer 2019;145:941-51. [PMID: 30694527 DOI: 10.1002/ijc.32167] [Cited by in Crossref: 22] [Cited by in F6Publishing: 26] [Article Influence: 7.3] [Reference Citation Analysis]
52 Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet J Rare Dis 2019;14:38. [PMID: 30744660 DOI: 10.1186/s13023-019-1020-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 22] [Article Influence: 5.7] [Reference Citation Analysis]
53 Collett-solberg PF, Jorge AA, Boguszewski MC, Miller BS, Choong CSY, Cohen P, Hoffman AR, Luo X, Radovick S, Saenger P. Growth hormone therapy in children; research and practice – A review. Growth Hormone & IGF Research 2019;44:20-32. [DOI: 10.1016/j.ghir.2018.12.004] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 5.3] [Reference Citation Analysis]
54 LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA, Mefford HC, Sol-Church K; University of Washington Center for Mendelian Genomics. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. Am J Hum Genet 2019;104:35-44. [PMID: 30554721 DOI: 10.1016/j.ajhg.2018.11.005] [Cited by in Crossref: 58] [Cited by in F6Publishing: 39] [Article Influence: 19.3] [Reference Citation Analysis]
55 Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, Arnhold IJP, Jorge AAL. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. The Journal of Clinical Endocrinology & Metabolism 2019;104:2023-30. [DOI: 10.1210/jc.2018-01971] [Cited by in Crossref: 21] [Cited by in F6Publishing: 29] [Article Influence: 7.0] [Reference Citation Analysis]
56 Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B. A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. Am J Med Genet A 2019;179:50-6. [PMID: 30548383 DOI: 10.1002/ajmg.a.60679] [Cited by in Crossref: 3] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
57 Kraus C, Uebe S, Thiel CT, Ekici AB, Reis A, Zweier C. Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. Am J Med Genet 2018;176:2872-6. [DOI: 10.1002/ajmg.a.40640] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
58 Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, Reis A, Sticht H, Zweier C; University of Washington Center for Mendelian Genomics., DDD Study. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet 2018;103:305-16. [PMID: 30057029 DOI: 10.1016/j.ajhg.2018.07.003] [Cited by in Crossref: 25] [Cited by in F6Publishing: 18] [Article Influence: 6.3] [Reference Citation Analysis]
59 Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel CT, Sticht H, Berghoff M, Berghoff C, Morera B, Meisterernst M, Reis A. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics 2018;19:215-25. [PMID: 30039206 DOI: 10.1007/s10048-018-0555-7] [Cited by in Crossref: 20] [Cited by in F6Publishing: 22] [Article Influence: 5.0] [Reference Citation Analysis]