Stephen Robertson

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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
Cameron-Christie SR, Wells CF, Simon M, et al. (2018) Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 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
Skraban CM, Wells CF, Markose P, et al. (2017) WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. American Journal of Human Genetics. 101: 139-148
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
Jacobsen JC, Glamuzina E, Taylor J, et al. (2015) Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case Reports in Genetics. 2015: 454526
Basart H, van de Kar A, Adès L, et al. (2015) Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics. Part A. 167: 1215-22
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
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