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Stephen Robertson - Publications

Affiliations: 
1998 Rutgers University, New Brunswick, New Brunswick, NJ, United States 
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19 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, ... ... Robertson SP, et al. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics. PMID 33909992 DOI: 10.1016/j.ajhg.2021.04.007  0.302
2018 Spencer C, Lombaard H, Wise A, Krause A, Robertson SP. A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. American Journal of Medical Genetics. Part A. 176: 980-984. PMID 29575627 DOI: 10.1002/ajmg.a.38651  0.312
2017 Jacobsen JC, Whitford W, Swan B, Taylor J, Love DR, Hill R, Molyneux S, George PM, Mackay R, Robertson SP, Snell RG, Lehnert K. Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair. Jimd Reports. PMID 29159460 DOI: 10.1007/8904_2017_73  0.301
2016 Morton JE, Frentz S, Morgan T, Sutherland-Smith AJ, Robertson SP. Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. American Journal of Medical Genetics. Part A. PMID 27410456 DOI: 10.1002/ajmg.a.37804  0.309
2015 Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO. Association of mutations in FLNA with craniosynostosis. European Journal of Human Genetics : Ejhg. PMID 25873011 DOI: 10.1038/ejhg.2015.31  0.337
2015 van Kogelenberg M, Clark AR, Jenkins Z, Morgan T, Anandan A, Sawyer GM, Edwards M, Dudding T, Homfray T, Castle B, Tolmie J, Stewart F, Kivuva E, Pilz DT, Gabbett M, ... ... Robertson SP, et al. Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. Journal of Molecular Medicine (Berlin, Germany). 93: 773-82. PMID 25686753 DOI: 10.1007/S00109-015-1261-7  0.322
2013 Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, Robertson SP. Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. Neurogenetics. 14: 113-21. PMID 23456229 DOI: 10.1007/s10048-013-0359-8  0.319
2013 McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics. 92: 150-6. PMID 23261301 DOI: 10.1016/J.Ajhg.2012.11.014  0.318
2012 Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human Mutation. 33: 1520-5. PMID 22715153 DOI: 10.1002/Humu.22141  0.32
2012 van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, ... ... Robertson SP, et al. Cantú syndrome is caused by mutations in ABCC9. American Journal of Human Genetics. 90: 1094-101. PMID 22608503 DOI: 10.1016/J.Ajhg.2012.04.014  0.327
2012 Gray MJ, Kim CA, Bertola DR, Arantes PR, Stewart H, Simpson MA, Irving MD, Robertson SP. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. European Journal of Human Genetics : Ejhg. 20: 122-4. PMID 21712856 DOI: 10.1038/Ejhg.2011.125  0.302
2011 Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, ... ... Robertson SP, et al. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nature Genetics. 43: 303-5. PMID 21378985 DOI: 10.1038/Ng.779  0.301
2008 Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. European Journal of Human Genetics : Ejhg. 16: 1176-86. PMID 18478038 DOI: 10.1038/ejhg.2008.91  0.314
2007 Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. American Journal of Medical Genetics. Part A. 143: 1120-5. PMID 17431908 DOI: 10.1002/ajmg.a.31696  0.323
2007 Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. European Journal of Human Genetics : Ejhg. 15: 3-9. PMID 16926860 DOI: 10.1038/sj.ejhg.5201654  0.301
2007 Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, ... ... Robertson SP, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of Medical Genetics. 44: 89-98. PMID 16801345 DOI: 10.1136/jmg.2006.043687  0.306
2006 Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, et al. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. American Journal of Medical Genetics. Part A. 140: 1726-36. PMID 16835913 DOI: 10.1002/ajmg.a.31322  0.329
2006 Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AOM, Manouvrier-Hanu S. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders European Journal of Human Genetics. 14: 549-554. PMID 16538226 DOI: 10.1038/sj.ejhg.5201586  0.344
2003 Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics. 33: 487-91. PMID 12612583 DOI: 10.1038/Ng1119  0.324
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