Stephen Robertson
Affiliations: | 1998 | Rutgers University, New Brunswick, New Brunswick, NJ, United States |
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"Stephen Robertson"
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| Chopra M, McEntagart M, Clayton-Smith J, et al. (2021) Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics |
| Spencer C, Lombaard H, Wise A, et al. (2018) 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 |
| Jacobsen JC, Whitford W, Swan B, et al. (2017) 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 |
| Morton JE, Frentz S, Morgan T, et al. (2016) Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. American Journal of Medical Genetics. Part A |
| Fennell N, Foulds N, Johnson DS, et al. (2015) Association of mutations in FLNA with craniosynostosis. European Journal of Human Genetics : Ejhg |
| van Kogelenberg M, Clark AR, Jenkins Z, et al. (2015) Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. Journal of Molecular Medicine (Berlin, Germany). 93: 773-82 |
| Tiffin HR, Jenkins ZA, Gray MJ, et al. (2013) Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. Neurogenetics. 14: 113-21 |
| McMillin MJ, Below JE, Shively KM, et al. (2013) Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics. 92: 150-6 |
| Campeau PM, Lu JT, Dawson BC, et al. (2012) The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human Mutation. 33: 1520-5 |
| van Bon BW, Gilissen C, Grange DK, et al. (2012) Cantú syndrome is caused by mutations in ABCC9. American Journal of Human Genetics. 90: 1094-101 |