Clinical Genetics Publications, Clinical Genetics Group

2018 to present

2024

Missen, S., Wilson, C., Potter, H., Vincent, A. L., Murphy, R., Roxburgh, R., … Poke, G., Robertson, S. P., … Glamuzina, E. (2024). Mitochondrial disease in New Zealand: A nationwide prevalence study. Internal Medicine Journal. 54(3):388-397.
Avery, N., Fukushima, K., Guan, G., Praganta, J., Rich, A., Vincent, M., & Robertson, S. (2024). Familial aggregation of keratinising desquamative squamous metaplasia in the urinary tract [Research letter]. BJU International, 133(S3):15-17.

2023

Peluso, F., Caraffi, S. G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., … Robertson, S. P., … Bayat, A. (2023). Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: A study of 53 patients and review of the literature. Journal of Medical Genetics, 60(12), 1224-1234.
Bressan, C., Snapyan, M., Snapyan, M., Klaus, J., di Matteo, F., Robertson, S. P., … Saghatelyan, A. (2023). Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia. EMBO Molecular Medicine, 15(10), e16908.
Moton, T. M., King, P. T., Dalziel, S. R., Merry, S., Robertson, S. P., & Day, A. S. (2023). The current and future state of child health and wellbeing in Aotearoa New Zealand: Part 2. Journal of the Royal Society of New Zealand, 53(5), 549-552.
Wade, E. M., Goodin, E. A., Wang, Y., Morgan, T., Callon, K. E., Watson, M., Daniel, P. B., … Robertson, S. P. (2023). FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function. Bone Reports, 18, 101668.
Unger, S., Ferreira, C. R., Mortier, G. R., Ali, H., Bertola, D. R., Calder, A., … Robertson, S. P., … Superti-Furga, A. (2023). Nosology of genetic skeletal disorders: 2023 revision. American Journal of Medical Genetics Part A, 191(5), 1164-1209.

2022

Halliday, B. J., Baynam, G., Ewans, L., Greenhalgh, L., Leventer, R. J., Pilz, D. T., … Markie, D. M., … Robertson, S. P., & Mandelstam, S. (2022). Distinctive brain malformations in Zhu-Tokita-Takenouchi-Kim syndrome. American Journal of Neuroradiology, 43(11), 1660-1666.
Guiney, H., Walker, R., Broadbent, J., Caspi, A., Goodin, E., Kokaua, J., … Robertson, S., Theodore, R., Poulton, R., & Endre, Z. (2022). Kidney-function trajectories from young adulthood to midlife: Identifying risk strata and opportunities for intervention. Kidney International Reports, 8(1), 51-63.
Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., … Jenkins, Z., … Robertson, S., … Sadikovic, B. (2022). Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation. 43(11):1609-1628.
Moton, T. M., King, P. T., Dalziel, S. R., Merry, S., Robertson, S. P., & Day, A. S. (2022). The current and future state of child health and wellbeing in Aotearoa New Zealand: Part 1. Journal of the Royal Society of New Zealand. 52(4):313-317.
Barbier, M., Bahlo, M., Pennisi, A., Jacoupy, M., Tankard, R. M., Ewenczyk, C., … Gardner, R. J. M., … Leventer, R. J., … Durr, A. (2022). Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25. Annals of Neurology. 92(1):122-137.
O'Neill, A. C., Uzbas, F., Antognolli, G., Merino, F., Draganova, K., Jäck, A., … Robertson, S. P., … Götz, M. (2022). Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity. Science, 376(6599), eabf9088.
Zieba, J., Forlenza, K. N., Heard, K., Martin, J. H., Bosakova, M., Cohn, D. H., Robertson, S. P., … Krakow, D. (2022). Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model. Bone Research, 10(1):37.
Tessadori, F., Duran, K., Knapp, K., Fellner, M., Deciphering Developmental Disorders Study, Smithson, S., … Robertson, S. P., … Mace, P. D., Bicknell, L. S., & van Haaften, G. (2022). Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. American Journal of Human Genetics. 109(4):750-758.
Wade, E. M., Parthasarathy, P., Mi, J., Morgan, T., Wollnik, B., Robertson, S. P., & Cundy, T. (2022). Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia. European Journal of Human Genetics, 30(4):480-484.
Wang, J , Foroutan, A., Richardson, E., Skinner, S. A., … Robertson, S. P., ... Stevenson, R. E. (2022). Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European Journal of Human Genetics, 30(4):420-427.

2021

Wade, E. M., Jenkins, Z. A., Morgan, T., Gimenez, G., Gibson, H., Peng, H., … Robertson, S. P. (2021). Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A, 185(12), 3675-3682.
Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., … Robertson, S. P., … Lekanne Deprez, R. H. (2021). Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant. American Journal of Medical Genetics Part A, 185(12), 3814-3820.
Kyrousi, C., O'Neill, A. C., Brazovskaja, A., He, Z., Kielkowski, P., Coquand, L., … Robertson, S. P., & Cappello, S. (2021). Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity. Nature Communications, 12(1), 6298.
Cundy, T., Vincent, A., & Robertson, S. (2021). Does brittle cornea syndrome have a bone fragility phenotype? Bone Reports, 15, 101124.
Pham, D. H., Pitman, M. R., Kumar, R., Jolly, L. A., Schulz, R., Gardner, A. E., … Halliday, B. J., Robertson, S. P., … Gecz, J. (2021). Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. Human Mutation, 42(8), 1030-104.
Chopra, M., McEntagart, M., Clayton-Smith, J., ... Parthasarathy, P., Halliday, B. J., Robertson, S. P., ... Gordon, C. T. (2021). Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. American Journal of Human Genetics, 108(6), 1138-1150.
Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528.
Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29(4):593-603.
Dissanayake, R., Senanayake, M. P., Fernando, J., Robertson, S. P., Dissanayake, V. H. W., & Sirisena, N. D. (2021). Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. American Journal of Medical Genetics Part A, 185(4), 1317-1320.
Bach, A., Mi, J., Hunter, M., Halliday, B. J., García-Miñaúr, S., Sperotto, F., … Robertson, S. P. (2021). Wilms tumor in patients with osteopathia striata with cranial sclerosis. European Journal of Human Genetics, 29(3), 396-401.

2020

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11(12), 1439.
Daniel, S., Renwick, M., Chau, V. Q., Datta, S., Maddineni, P., Zode, G., Wade, E. M., Robertson, S. P., … Hulleman, J. D. (2020). Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity. Journal of Molecular Medicine, 98(11), 1639-1656.
Harms, F. L., Parthasarathy, P., Zorndt, D., Alawi, M., Fuchs, S., Halliday, B. J., … Robertson, S. P., … Kutsche, K. (2020). Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Human Mutation, 41(9), 1645-1661.
Kortüm, F., Niceta, M., Magliozzi, M., Dumic Kubat, K., Robertson, S. P., Moresco, A., … Kutsche, K. (2020). Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. European Journal of Medical Genetics, 63(9), 103996.
Ballout, R. A., Dickerson, C., Wick, M. J., Al-Sweel, N., Openshaw, A. S., Srivastava, S., … Robertson, S. P., … El-Hattab, A. W. (2020). Int22h1/Int22h2-mediated Xq28 duplication syndrome: De novo duplications, prenatal diagnoses, and additional phenotypic features. Human Mutation, 41(7), 1238-1249.
Ng, B. G., Dastsooz, H., Silawi, M., Habibzadeh, P., Jahan, S. B., Fard, M. A. F., Halliday, B. J., … Robertson, S. P., … Freeze, H. H. (2020). Expanding the Molecular and Clinical Phenotypes of FUT8-CDG. Journal of Inherited Metabolic Disease, 43(4), 871-879.
Wade, E. M., Halliday, B. J., Jenkins, Z. A., O'Neill, A. C., & Robertson, S. P. (2020). The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Human Mutation. 41(5), 865-883.
Buchsbaum, I. Y., Kielkowski, P., Giorgio, G., O'Neill, A. C., Di Giaimo, R., Kyrousi, C., … Robertson, S. P., & Cappello, S. (2020). ECE2 regulates neurogenesis and neuronal migration during human cortical development. EMBO Reports, 21(5), e48204.
Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P. A., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2020). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics. 28(4), 445-452.
Peng, H., Jenkins, Z. A., White, R., Connors, S., Hunter, M. F., Ronan, A., … Markie, D. M., … Robertson, S. P. (2020). An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia.Journal of Clinical Endocrinology & Metabolism. 105(3)688-695.

2019

Mortier, G. R., Cohn, D. H., Cormier-Daire, V., Hall, C., Krakow, D., Mundlos, S., … Robertson, S., … Warman, M. L. (2019). Nosology and classification of genetic skeletal disorders: 2019 revision. American Journal of Medical Genetics Part A. 179(12), 2393-2419.
Theis, N. J., Calvert, T., McIntyre, P., Robertson, S. P., & Wheeler, B. J. (2019). Cantu syndrome and hypopituitarism: Implications for endocrine monitoring. Endocrinology, Diabetes & Metabolism Case Reports, 2019:19-0103.
Robertson, S. (2019). X-Linked otopalatodigital spectrum disorders: Synonym: Otopalatodigital spectrum disorders (OPDSD). In M. P. Adam (Ed.), GeneReviews. Seattle, WA: University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1393.
Gowans, L. J. J., Cameron-Christie, S., Slayton, R. L., Busch, T., Romero-Bustillos, M., Eliason, S., … Drummond, B. K., Markie, D. M., Jansen van Vuuren, W., Jansen Van Vuuren, L., … van Staden, I., … Robertson, S. P., & Butali, A. (2019). Missense pathogenic variants in KIF4A affect dental morphogenesis resulting in X-linked taurodontism, microdontia and dens-invaginatus. Frontiers in Genetics, 10, 800.
van der Sluijs, E. P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., … Robertson, S. P., … Santen, G. W. E. (2019). Correction: The ARID1B spectrum in 143 patients: From nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine. 21(9), 2160-2161.
Cameron-Christie, S. R., Wells, C. F., Simon, M., Wessels, M., Tang, C. Z. N., Wei, W., Takei, R., … Markie, D. M., Jenkins, Z. A., & Robertson, S. P. (2019). Recessive spondylocarpotarsal synostosis syndrome due to compound heterozygosity for variants in MYH3. American Journal of Human Genetics, 105(3), 669.
van der Sluijs, E. P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., … Robertson, S. P., … Santen, G. W. E. (2019). The ARID1B spectrum in 143 patients: From nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine. 21(6), 1295-1307.
Klaus, J., Kanton, S., Kyrousi, C., ... O'Neill, A. C., ... Götz, M., Robertson, S. P., Treutlein, B., Cappello, S.. (2019) Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia. Nature Medicine, 25(4), 561-568.
Sun, X., Guo, Q., Wei, W., Robertson, S., Yuan, Y., & Luo, X. (2019). Current progress on MicroRNA-based gene delivery in the treatment of osteoporosis and osteoporotic fracture. International Journal of Endocrinology, 2019, 6782653.
Heyn, P., Logan, C. V., Fluteau, A., Challis, R. C., Auchynnikava, T., Martin, C. A., Marsh, J. A., Taglini, F., Kilanowski, F., Parry, D. A., Cormier-Daire, V., ... Robertson, S. P., ... Jackson, A. P. (2019) Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. Nature Genetics, 51(1), 96-105.

2018

McKeown, C., Connors, S., Stapleton, R., Morgan, T., Hayes, I., Neas, K., … Markie, D. M., … Robertson, S. P. (2018). A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Journal of the Royal Society of New Zealand, 48(4), 1-18.
Cameron-Christie, S. R., Wilde, J., Gray, A., Tankard, R., Bahlo, M., Markie, D., Evans, H. M., Robertson, S. P. (2018). Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family. BMC Medical Genomics, 11(1):121.
O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP. (2018). A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. Cell Reports, 25(10), 2729-2741.
Robertson, S. P., Hindmarsh, J. H., Berry, S., Cameron, V. A., Cox, M. P., Dewes, O., … Matisoo-Smith, E., … Sika-Paotonu, D., … Merriman, T. R., … Wilcox, P. (2018). Genomic medicine must reduce, not compound, health inequities: The case for hauora-enhancing genomic resources for New Zealand. New Zealand Medical Journal, 131(1480), 81-89.
Lind, T., Lugano, R., Gustafson, A.-M., Norgård, M., van Haeringen, A., Dimberg, A., … Robertson, S. P., & Andersson, G. (2018). Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression. Bone Reports, 9, 27-36.
Cameron-Christie, S. R., Wells, C. F., Simon, M., Wessels, M., Tang, C. Z. N., Wei, W., Takei, R., … Markie, D. M., Jenkins, Z. A., & Robertson, S. P. (2018). Recessive spondylocarpotarsal synostosis syndrome due to compound heterozygosity for variants in MYH3.American Journal of Human Genetics, 102(6), 1115-1125.
Heinzen, E. L., O'Neill, A. C., Zhu, X., Allen, A. S., Bahlo, M., Chelly, J., … Robertson, S. P., … for the Epi4K Consortium, Epilepsy Phenome/Genome Project. (2018). De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genetics, 14(5), e1007281.
Baudier, J., Jenkins, Z. A., & Robertson, S. P. (2018). The filamin-B-refilin axis: Spatiotemporal regulators of the actin-cytoskeleton in development and disease. Journal of Cell Science, 131(8), jcs213959.
O'Neill, A. C., Kyrousi, C., Einsiedler, M., Burtscher, I., Drukker, M., Markie, D. M., … Robertson, S. P., & Cappello, S. (2018). Mob2 insufficiency disrupts neuronal migration in the developing cortex. Frontiers in Cellular Neuroscience, 12, 57.
Spencer, C., Lombaard, H., Wise, A., Krause, A., & Robertson, S. P. (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(4), 980-984.
Jacobson, J. C., Whitford, W., Swan, B., Taylor, J., Love, D. R., Hill, R., … George, P. M., Mackay, R., Robertson, S. P., … Lehnert, K. (2018). Compound heterozygous inheritance of mutations in coenzyme Q8A results in autosomal recessive cerebellar ataxia and coenzyme Q10 deficiency in a female sib-pair. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke & V. Peters (Eds.), JIMD reports: Volume 42. (pp. 31-36).
Evans, H. M., Innes Asher, M., Cameron-Christie, S., Farthing, S., McCall, J., Robertson, S. P., … Morreau, P. N. (2018). Ethnic disparity in the incidence and outcome of biliary atresia in New Zealand. Journal of Pediatric Gastroenterology & Nutrition, 66(2), 218-221.
Jenkins, Z. A., Macharg, A., Chang, C.-Y., van Kogelenberg, M., Morgan, T., Frentz, S., Wei, W., … Markie, D. M., … Robertson, S. P. (2018). Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. Human Mutation, 39(1), 103-113.

2011-2017

2017

Méneret, A., Franz, E. A., Trouillard, O., Oliver, T. C., Zagar, Y., Robertson, S. P., … Gardner, R. J. M., … Jasoni, C. L., … Markie, D. (2017). Mutations in the netrin-1 gene cause congenital mirror movements. Journal of Clinical Investigation, 127(11), 3923-3936.
Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., … Markie, D. M., ... Robertson, S. P., … Deardorff, M. A. (2017). WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features. American Journal of Human Genetics, 101(1), 139-148.
Di Gioia, S. A., Connors, S., Matsunami, N., Cannavino, J., Rose, M. F., Gilette, N. M., … Morgan, T., … Markie, D. M., … Robertson, S. P., … Engle, E. C. (2017). A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications, 8, 16077.
Bernkopf, M., Hunt, D., Koelling, N., Morgan, T., Collins, A. L., Fairhurst, J., Robertson, S. P., … Goriely, A. (2017). Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counselling in post-zygotic mosaicism cases. Human Mutation, 38(10), 1360-1364.
Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Adés, L. C., … Robertson, S. P. (2017). Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics Part A, 173(7), 1739-1749.
Ithychanda, S. S., Dou, K., Robertson, S. P., & Qin, J. (2017). Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. Journal of Biological Chemistry, 292(20), 8390-8400.
Glendining, K. A., Markie, D., Gardner, R. J. M., Franz, E. A., Robertson, S. P., & Jasoni, C. L. (2017). A novel role for the DNA repair gene Rad51 in Netrin-1 signalling. Scientific Reports, 7, 39823.

2016

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), 392-406.
Morton, J. E. V., Frentz, S., Morgan, T., Sutherland-Smith, A. J., & Robertson, S. P. (2016). Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley–Bixler syndromes. American Journal of Medical Genetics Part A, 170(10), 2706-2710.
Gascón, S., Murenu, E., Masserdotti, G., Ortega, F., Russo, G. L., Petrik, D., … Robertson, S. P., … Götz, M. (2016). Identification and successful negotiation of a metabolic checkpoint in direct neuronal reprogramming. Cell Stem Cell. 18(3), 396-409.
Thomson, W. M., Zeng, J., Broadbent, J. M., Foster Page, L. A., Shalev, I., Moffitt, T. E., Caspi, A., Williams, S. M., Braithwaite, A. W., Robertson, S. P., Poulton, R. (2016). Telomere length and periodontal attachment loss: A prospective cohort study. Journal of Clinical Periodontology. 43(2), 121-7.
Jacobsen, J. C., Wilson, C., Cunningham, V., Glamuzina, E., Prosser, D. O., Love, D. R., … Robertson, S. P., … Lehnert, K. (2016). Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. Journal of Inherited Metabolic Disease, 39(2), 305-308.
Hood, R. L., McGillivray, G., Hunter, M. F., Robertson, S. P., Care4Rare Canada Consortium, Bulman, D. E., … Stark, Z. (2016). Severe connective tissue laxity including aortic dilatation in Sotos syndrome [Letter]. American Journal of Medical Genetics Part A. 170(2), 531- 535.

2015

Robertson, S. P. (2015). Molecular genetics of congenital multiple large joint dislocation. In C. A. Wise & J. J. Rios (Eds.), Molecular genetics of pediatric orthopaedic disorders. (pp. 39-55). New York: Springer.
Jacobsen, J. C., Glamuzina, E., Taylor, J., Swan, B., Handisides, S., Wilson, C., … Robertson, S. P., … Lehnert, K. (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.
Gray, M. J., Kannu, P., Sharma, S., Neyt, C., Zhang, D., Paria, N., Daniel, P. B., … Wilson, M. J., … Markie, D. M., … Robertson, S. P. (2015). Mutations preventing regulated exon skipping in MET cause osteofibrous dysplasia. American Journal of Human Genetics, 97(6), 837-847.
Fennell, N., Foulds, N., Johnson, D. S., Wilson, L. C., Wyatt, M., Robertson, S. P., Johnson, D., Wall, S. A., Wilkie, A. O. (2015). Association of mutations in FLNA with craniosynostosis. European Journal of Human Genetics. 23(12), 1684-1688.
de Athayde Costa, L. S., Pegler, S. P., Lellis, R. F., Krebs, V. L. J., Robertson, S., Morgan, T., … Kim, C. A. (2015). Menkes disease: Importance of diagnosis with molecular analysis in the neonatal period [Case report]. Revista da Associaçāo Médica Brasileira, 61(5), 407-410.
Fischer-Zirnsak, B., Escande-Beillard, N., Ganesh, J., Tan, Y. X., Al Bughailli, M., Lin, A. E., … Robertson, S. P., … Kornak, U. (2015). Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa. American Journal of Human Genetics, 97(3), 483-492.
van Kogelenberg, M., Clark, A. R., Jenkins, Z., Morgan, T., Anandan, A., Sawyer, G. M., … Robertson, S. P. (2015). Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. Journal of Molecular Medicine. 93(7), 773-782.
Basart, H., van de Kar, A., Adès, L., Cho, T.-J., Carter, E., Maas, S. M., … Wade, E. M., Robertson, S. P., Hennekam, R. C. (2015). Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics Part A. 167(6), 1215-122.
Bertola, D., Passos-Bueno, M. R., Pereira, A., Kim, C., Morgan, T., & Robertson, S. P. (2015). Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype—phenotype correlation [Research letter]. American Journal of Medical Genetics Part A, 167(5), 1161-1164.
Bunn, K. J., Daniel, P., Rösken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., … Markie, D. M., Robertson, S. P. (2015). Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics, 96(4), 623-630.
Franz, E. A., Chiaroni-Clarke, R., Woodrow, S., Glendining, K. A., Jasoni, C. L., Robertson, S. P., Gardner, R. J. M., Markie, D. (2015). Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations. Journal of the Neurological Sciences, 351(1-2), 140-145.

2014

Reinstein, E., Morris, S. A., Rimoin, D. L., Robertson, S. P., & Lacro, R. V. (2014). Arterial tortuosity in patients with Filamin A- associated vascular aneurysms. American Journal of Medical Genetics Part A, 164(11), 2961-2963.
Shalev, I., Moffitt, T. E., Braithwaite, A. W., Danese, A., Fleming, N. I., Goldman-Mellor, S., ... Poulton, R., Robertson, S. P., ... Caspi, A. (2014). Internalizing disorders and leukocyte telomere erosion: A prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder. Molecular Psychiatry, 19(11), 1163-1170.
Bunn, K. J., Lai, A., Al-Ani, A., Farella, M., Craw, S., & Robertson, S. P. (2014). An osteosclerotic form of Robinow syndrome. American Journal of Medical Genetics Part A, 164(10), 2638-2642.
Gray, M. J., van Kogelenberg, M., Beddow, R., Morgan, T., Wordsworth, P., Shears, D. J., Robertson, S. P., Hurst, J. A. (2014). A new acro-osteolysis syndrome caused by duplications including PTHLH. Journal of Human Genetics, 59(9), 484-487.
Petit, F., Escande, F., Jourdain, A. S., Porchet, N., Amiel, J., Doray, B., Delrue, M. A., Flori, E., Kim, C. A., Marlin, S., Robertson, S. P., Manouvrier-Hanu, S., Holder-Espinasse, M. (2014). Nager syndrome: report on 14 families and confirmation of SF3B4 haploinsufficiency as the major cause. Clinical Genetics, 86(3), 246-251.
Mazzaschi, R. L. P., Taylor, J., Robertson, S. P., Love, D. R., & George, A. M. (2014). A Turner syndrome patient carrying a mosaic distal X chromosome marker. Case Reports in Genetics, 2014, 597314.
McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., ... Gibson, K., ... Robertson, S. P., ... Bamshad, M. J. (2014). Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics, 94(5), 734-744.

2013

Cappello, S., Gray, M. J., Badouel, C., Lange, S., ... Jenkins, Z. A., Morgan, T., Preitner, N., ... Newbury-Ecob R, Swinkells M, ... Sutherland-Smith, A. J., ... Markie, D., ... Mansour, A., ... Robertson, S. P. (2013). Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nature Genetics, 45(11), 1300-1308.
Griffiths, A. L., Heggie, A., Holman, S., Robertson, S. P., White, S. M. (2013). Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia. Journal of Craniofacial Surgery, 24(2), 508-510.
Conti, V., Carabalona, A., Pallesi-Pocachard, E., Parrini, E., Leventer, R. J., Buhler, E., ... Robertson, S. P., ... Guerrini, R. (2013). Periventricular heterotopia in 6q terminal deletion syndrome: Role of the C6orf70 gene. Brain Part 11, 136, 3378-3398.
Fry, A. E., Kerr, M. P., Gibbon, F., Turnpenny, P. D., Hamandi, K., Stoodley, N., Robertson, S. P., Pilz, D. T. (2013). Neuropsychiatric disease in patients with periventricular heterotopia. Journal of Neuropsychiatry & Clinical Neurosciences, 25(1), 26-31.
Holman, S. K., Morgan, T., Baujat, G., Cormier-Daire, V., Cho, T.-J., Lees, M., ... Robertson, S. P. (2013). Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. Clinical Genetics, 83(3), 251-256.
Mandelstam, S. A., Leventer, R. J., Sandow, A., McGillivray, G., van Kogelenberg, M., Guerrini, R., Robertson, S. P., ... Scheffer, I. E. (2013). Bilateral posterior periventricular nodular heterotopia: A recognizable cortical malformation with a spectrum of associated brain abnormalities. American Journal of Neuroradiology, 34(2), 432-438.
McMillin, M. J., Below, J. E., Shively, K. M., Beck, A. E., Gildersleeve, H. I., Pinner, J., ... Robertson, S. P., ... and the University of Washington Center for Mendelian Genomics. (2013). Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics, 92(1), 150-156.
Reinstein, E., Frentz, S., Morgan, T., García-Miñaúr, S., Leventer, R. J., McGillivray, G., ... Robertson, S. P. (2013). Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. European Journal of Human Genetics, 21(5), 494-502.
Santen, G. W., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W., ... Nampoothiri, S., Newbury-Ecob, R., ... Robertson, S. P., ... Yesil, G. (2013) Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients. Human Mutation, 34(11), 1519-1528.
Herman, S. B., Holman, S. K., Robertson, S. P., Davidson, L., Taragin, B., & Samanich, J. (2013). Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. American Journal of Medical Genetics Part A, 161(3), 594-599.
Tiffin, H. R., Jenkins, Z. A., Gray, M. J., Cameron-Christie, S. R., Eaton, J., Aftimos, S., Markie, D., Robertson, S. P. (2013). Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery—Dreifuss muscular dystrophy plus phenotype. Neurogenetics, 14(2), 113-121.
Baas, A. F., Gabbett, M., Rimac, M., Kansikas, M., Raphael, M., Nievelstein, R. A. J., ... Robertson, S. P., ... Wimmer, K. (2013). Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. European Journal of Human Genetics, 21(1), 55-61.

2012

Robertson, S. P., & Kerruish, N. (2012). Resolving the impasse on predictive genetic testing in minors: Will more evidence be the solution? [Commentary]. Journal of Medical Ethics, 38(9), 525-526.
Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., ... Robertson, S. P., ... Lee, B. H. (2012). Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome. American Journal of Human Genetics, 90(2), 282-289.
Campeau, P. M., Lu, J. T., Dawson, B. C., Fokkema, I. F. A. C., Robertson, S. P., Gibbs, R. A., & Lee, B. H. (2012). The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human Mutation, 33(11), 1520-1525.
Cardoso, S., Robertson, S. P., & Daniel, P. B. (2012). TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. Journal of Receptors & Signal Transduction, 32(3), 150-155.
Daniel, P. B., Morgan, T., Alanay, Y., Bijlsma, E., Cho, T.-J., Cole, T., … Robertson, S. P. (2012). Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Human Mutation, 33(4), 665-673.
Gray, M. J., Kim, C. A., Bertola, D. R., Arantes, P. R., Stewart, H., Simpson, M. A., ... Robertson, S. P. (2012). Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. European Journal of Human Genetics, 20(1), 122-124.
Mansour, S., Swinkels, M., Terhal, P. A., Wilson, L. C., Rich, P., Van Maldergem, L., ... Robertson, S. P., Newbury-Ecob, R. (2012). Van Maldergem syndrome: Further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. European Journal of Human Genetics, 20(10), 1024-1031.
Pisano, T., Barkovich, A. J., Leventer, R. J., Squier, W., Scheffer, I. E., Parrini, E., ... Robertson, S. P., ... Guerrini, R. (2012). Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology, 79(12), 1244-1251.
Reinstein, E., Chang, B. S., Robertson, S. P., Rimoin, D. L., & Katzir, T. (2012). Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia. American Journal of Medical Genetics Part A, 158A(8), 1897-1901.
Tsutsumi, S., Maekawa, A., Obata, M., Morgan, T., Robertson, S. P., & Kurachi, H. (2012). A case of boomerang dysplasia with a novel causative mutation in filamin B: Identification of typical imaging: Findings on ultrasonography and 3D-CT imaging. Fetal Diagnosis & Therapy, 32(3), 216-220.
van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., ... Robertson, S. P., ... Hoischen, A. (2012). Cantú Syndrome Is caused by mutations in ABCC9. American Journal of Human Genetics, 90(6), 1094-1101.
Zankl, A., Duncan, E. L., Leo, P. J., Clark, G. R., Glazova, E. A., Addor, M.-C., ... Robertson, S. P., ... Brown, M. A. (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90(3), 494-501.

2011

Gay, O., Gilquin, B., Nakamura, F., Jenkins, Z. A., McCartney, R., Krakow, D., ... Robertson, S. P., Baudier, J. (2011). RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape. PNAS, 108(28), 11464-11469.
Holman, S. K., Daniel, P., Jenkins, Z. A., Herron, R. L., Morgan, T., Savarirayan, R., ... Robertson, S. P. (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics Part A, 155(10), 2397-2408.
Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., ... Morgan, T., Gray, M. J., ... Robertson, S. P. (2011). Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. American Journal of Human Genetics, 89(5), 595-606.
Masurel-Paulet, A., Haan, E., Thompson, E. M., Goizet, C., Thauvin-Robinet, C., Tai, A., ... Robertson, S. P., Faivre, L. (2011). Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. European Journal of Medical Genetics, 54(1), 25-28.
Scurr, I., Wilson, L., Lees, M., Robertson, S. P., Kirk, E., Turner, A., ... Smithson, S. (2011). Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype. American Journal of Medical Genetics Part A, 155A(3), 508-518.
Simpson, M. A., Irving, M. D., Asilmaz, E., Gray, M. J., Dafou, D., Elmslie, F. V., ... Robertson, S. P., ... Trembath, R. C. (2011). Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nature Genetics, 43(4), 303-305.
Skidmore, D. L., Chitayat, D., Morgan, T., Hinek, A., Fischer, B., Dimopoulou, A., ... Robertson, S. P. (2011). Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS). American Journal of Medical Genetics Part A, 155(8), 1848-1856.
van Kogelenberg, M., Lerone, M., De Toni, T., Divizia, M. T., de Brouwer, A. P. M., Veltman, J. A., ... Robertson, S. P. (2011). A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. American Journal of Medical Genetics Part A, 155(12), 3144-3147.
Warman, M. L., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., ... Robertson, S. P., ... Superti-Furga, A. (2011). Nosology and Classification of Genetic Skeletal Disorders: 2010 revision. American Journal of Medical Genetics Part A, 155(5), 943-968.

2004-2010

2010

Fukuzawa, R., Holman, S. K., Chow, C. W., Savarirayan, R., Reeve, A. E., & Robertson, S. P. (2010). WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. Journal of Medical Genetics, 47(11), 791-794.
Kapur, R. P., Robertson, S. P., Hannibal, M. C., Finn, L. S., Morgan, T., van Kogelenberg, M., & Loren, D. J. (2010). Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and X-linked intestinal pseudo-obstruction. American Journal of Surgical Pathology, 34(10), 1528-1543.
van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., Macdermot, K., ... Robertson, S. P. (2010). Periventricular heterotopia in common microdeletion syndromes. Molecular Syndromology, 1(1), 35-41.
Sun, Y., Almomani, R., Aten, E., Celli, J., van der Heijden, J., Venselaar, H., Robertson, S. P., ... Breuning, M. H. (2010). Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. American Journal of Human Genetics, 87(1), 146-153.
Unger, S., Lausch, E., Rossi, A., Mégarbané, A., Sillence, D., Alcausin, M., ... Robertson, S. P., ... Superti-Furga, A. (2010). Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features. American Journal of Medical Genetics Part A, 152A(10), 2543-2549.
Yoshida, A., Maoate, K., Blakelock, R. T., Robertson, S. P., & Beasley, S. (2010). Long-term functional outcomes in children with Currarino syndrome. Pediatric Surgery International, 26(7), 677-681.

2009

Anderson, S., Menten, B., van Kogelenberg, M., Robertson, S. P., Waginger, M., Mentzel, H.-J., ... Willems, P. (2009). Aicardi syndrome in a male patient. Neuropediatrics, 40(1), 39-42.
Arai, A., Mitsuhashi, S., Saito, Y., Komaki, H., Sakuma, H., Nakagawa, E., ... Robertson, S. P., ... Nishino, I. (2009). Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscular Disorders, 19(7), 485-488.
Clark, A. R., Sawyer, G. M., Robertson, S. P., & Sutherland-Smith, A. J. (2009). Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Human Molecular Genetics, 18(24), 4791-4800.
Hancox, R. J., Poulton, R., Welch, D., Olova, N., McLachlan, C. R., Greene, J. M., ... Caspi, A., Moffitt, T. E., Robertson, S. P., Braithwaite, A. W. (2009). Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms. Human Genetics, 126(4), 559-565.
Huber, C., Oulès, B., Bertoli, M., Chami, M., Fradin, M., Alanay, Y., ... Robertson, S. P., ... Cormier-Daire, V. (2009). Identification of CANT1 mutations in Desbuquois dysplasia. American Journal of Human Genetics, 85(5), 706-710.
Jenkins, Z. A., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., ... Robertson, S. P. (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100.
Lyons, M. J., Graham, Jr, J. M., Neri, G., Hunter, A. G. W., Clark, R. D., Rogers, R. C., ... Robertson, S. P., ... Stevenson, R. E. (2009). Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. Journal of Medical Genetics, 46(1), 9-13.
Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., ... Markie, D., Gray, M., ... Robertson, S. P., ... Kornak, U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41(9), 1016-1021.
Sawyer, G. M., Clark, A. R., Robertson, S. P., & Sutherland-Smith, A. J. (2009). Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. Journal of Molecular Biology, 390(5), 1030-1047.

2008

Robertson, S. P., Poulton, R. (2008). Longitudinal studies of gene-environment interaction in common diseases--good value for money?. Novartis Foundation Symposium. 293, 128-137, discussion 138-142, 181-183.
Bicknell, L. S., Pitt, J., Aftimos, S., Ramadas, R., Maw, M. A., & Robertson, S. P. (2008). A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. European Journal of Human Genetics, 16(10), 1176-1186.
Gabbett, M. T., Robertson, S. P., Broadbent, R., Aftimos, S., Sachdev, R., & Nezarati, M. N. (2008). Characterizing the oculoauriculofrontonasal syndrome. Clinical Dysmorphology, 17(2), 79-85.
Robertson, S. P., & Poulton, R. (2008). Longitudinal studies to detect gene x environment interactions in common disease - Bang for your buck? A commentary on Chaufan's "How much can a large population study on genes, environments, their interactions and common diseases contribute to the health of the American people?″ (65:8, 1730-1741(2007)). Social Science & Medicine, 67(4), 666-672.
van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., ... Markie, D., ... Robertson, S. P. (2008). Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype. American Journal of Medical Genetics Part A, 146A(18), 2376-2384.

2007

Albano, L. M. J., Bertola, D. R., Barba, M. F., Valente, M., Robertson, S. P., & Kim, C. A. (2007). Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: A clinical and molecular study in three patients. Clinical Dysmorphology, 16(1), 27-33.
Bicknell, L. S., Farrington-Rock, C., Shafeghati, Y., Rump, P., Alanay, Y., Alembik, Y., ... Robertson, S. P. (2007). A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of Medical Genetics, 44(2), 89-98.
Kerruish, N. J., Campbell-Stokes, P. L., Gray, A., Merriman, T. R., Robertson, S. P., & Taylor, B. J. (2007). Maternal psychological reaction to newborn genetic screening for type 1 diabetes. Pediatrics, 120(2), e324-e335.
Mariño-Enríquez, A., Lapunzina, P., Robertson, S. P., & Rodríguez, J. I. (2007). 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, 143A(10), 1120-1125.
Robertson, S. P. (2007). Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. European Journal of Human Genetics, 15(1), 3-9.

2006

Adès, L. C., Sullivan, K., Biggin, A., Haan, E. A., Brett, M., Holman, K. J., ... Robertson, S. P., ... Bennetts, B. (2006). FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. American Journal of Medical Genetics Part A, 140A(10), 1047-1058.
Colombani, M., Laurent, N., Le Merrer, M., Delezoide, A.-L., Thauvin-Robinet, C., Huet, F., ... Robertson, S. P., Faivre, L. (2006). A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Prenatal Diagnosis, 26(12), 1151-1155.
Farrington-Rock, C., Firestein, M. H., Bicknell, L. S., Superti-Furga, A., Bacino, C. A., Cormier-Daire, V., ... Robertson, S. P., ... Krakow, D. (2006). Mutations in two regions of FLNB result in atelosteogenesis I and III. Human Mutation, 27(7), 705-710.
Robertson, S. P., Jenkins, Z. A., Morgan, T., Adès, L., Aftimos, S., Boute, O., ... Krakow, D. (2006). Frontometaphyseal Dysplasia: Mutations in FLNA and phenotypic diversity. American Journal of Medical Genetics Part A, 140A(16), 1726-1736.
Robertson, S. P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A. O., & Manouvrier-Hanu, S. (2006). Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. European Journal of Human Genetics, 14(5), 549-554.
Tang, J., Robertson, S. P., Lem, K. E., Godwin, S. C., & Kaler, S. G. (2006). Functional copper transport explains neurologic sparing in Occipital Horn syndrome. Genetics in Medicine, 8(11), 711-718.

2005

Bicknell, L. S., Morgan, T., Bonafé, L., Wessels, M. W., Bialer, M. G., Willems, P. J., ... Robertson, S. P. (2005). Mutations in FLNB cause boomerang dysplasia. Journal of Medical Genetics, 42(7). Retrieved from http://jmg.bmjjournals.com/cgi/content/full/42/7/e43
Kerruish, N. J., & Robertson, S. P. (2005). Newborn screening: New developments, new dilemmas. Journal of Medical Ethics, 31(7), 393-398.
Robertson, S. P. (2005). Filamin A: Phenotypic diversity. Current Opinion in Genetics & Development, 15(3), 301-307.
Schader, I., Robertson, S. P., Maoate, K., & Beasley, S. (2005). Hereditary thyroglossal duct cysts. Pediatric Surgery International, 21(7), 593-594.
Sheen, V. L., Jansen, A., Chen, M. H., Parrini, E., Morgan, T., ... Robertson, S. P., et al (2005). Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology, 64(2), 254-262.
Verloes, A., Garel, C., Robertson, S. P., Le Merrer, M., & Baumann, C. (2005). Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome? American Journal of Medical Genetics Part A, 137A(2), 199-203.

2004

Krakow, D., Robertson, S. P., King, L. M., Morgan, T., & et al (2004). Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics, 36(4), 405-410.
Robertson, S. P. (2004). Molecular pathology of filamin A: Diverse phenotypes, many functions. Clinical Dysmorphology, 13(3), 123-131.
Twigg, S. R. F., Kan, R., Babbs, C., Bochukova, E. G., Robertson, S. P., Wall, S. A., ... Wilkie, A. O. M. (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. PNAS, 101(23), 8652-8657.

1997-2003

2003

Hyland, V. J., Robertson, S. P., Flanagan, S., Savarirayan, R., Roscioli, T., Masel, J., ... Glass, I. A. (2003). Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. American Journal of Medical Genetics Part A, 120A(2), 157-168.
Mäkitie, O., Savarirayan, R., Bonafé, L., Robertson, S. P., Susic, M., Superti-Furga, A., & Cole, W. G. (2003). Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign. American Journal of Medical Genetics Part A, 122A(3), 187-192.
Robertson, S. P., Twigg, S. R., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., ... The OPD-spectrum Disorders Cli Collaborative Group Group, Wilkie, A. O. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33(4), 487-489.
Savarirayan, R., Robertson, S. P., Bankier, A., & Rogers, J. G. (2003). Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Pediatric Pathology & Molecular Medicine, 22(1), 37-46.

2002

Downey, L. M., Keen, T. J., Jalili, I. K., McHale, J., Aldred, M. J., Robertson, S. P., & et al (2002). Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. European Journal of Human Genetics, 10(12), 865-869.

2001

Gedeon, A. K., …, Robertson, S. P., & et al (2001). The molecular basis of spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics, 68(6), 1386-1397.
Kennerson, M. L., Zhu, D., Gardner, R. J. M., Storey, E., Merory, J., Robertson, S. P., & Nicholson, G. A. (2001). Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics, 69(4), 883-888.
Robertson, S. P., & Savulescu, J. (2001). Is there a case in favour of predictive genetic testing in young children? Bioethics, 15(1), 26-49.
Robertson, S. P., Walsh, S., Oldridge, M., Gunn, T., Becroft, D. M. O., & Wilkie, A. O. (2001). Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1. American Journal of Human Genetics, 69(1), 223-227.

2000

Robertson, S. P., Shears, D. J., Oei, P., Winter, R. M., Scambler, P. J., Aftimos, S., Savarirayan, R. (2000). Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. Journal of Medical Genetics, 37(12), 959-964.
Nakano, A., Murrell, K. D., Rico, J., Lucky, A. W., Garzon, M., Stevens, C. A., Robertson, S. P., ... Uitto, J. (2000). Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the B4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatric Research, 49(5), 618-626.
Robertson, S. P., Gattas, M., Rogers, M., & Ades, L. C. (2000). Macrocephaly Cutis marmorata telangiectatica congenita. Report of five cases and review of the literature. Clinical Dysmorphology, 9(1), 1-9.
Robertson, S. P., Rodda, C., & Bankier, A. (2000). Hypogonadotrophic hypogonadism in Roifman syndrome. Clinical Genetics, 57(6), 435-438.

1999

Robertson, S. P., & Bankier, A. (1999). Oromandibular limb hypogenesis syndrome: A severe adult phenotype. American Journal of Medical Genetics, 83(5), 427-429.
Robertson, S. P., & Bankier, A. (1999). Sotos syndrome and cutis laxa. Journal of Medical Genetics, 36(1), 51-56.
Robertson, S. P., Kirk, E., Bernier, F., Turner, A., & Bankier, A. (1999). Congenital hypertrichosis, osteochondrodysplasia and cardiomegaly: Cantu syndrome. American Journal of Medical Genetics, 85(4), 395-402.
Robertson, S. P., Savarirayan, R., & Rogers, J. (1999). A dominant osteodyplastic disorder with severe cervical involvement. American Journal of Medical Genetics, 83(1), 17-22.

1998

Robertson, S. P., Klug, G. L., & Rogers, J. G. (1998). Cerebrospinal fluid shunts in San Filoppo syndrome (MPSIII). European Journal of Pediatrics, 157(8), 653-655.
Robertson, S. P., & Simmons, D. (1998). Early childhood growth in ethnic groups predisposed to NIDDM: a prospective study. Diabetes Research & Clinical Practice, 40(2), 137-143.
Robertson, S. P., Lipp, H., & Bankier, A. (1998). Zimmerman Laband syndrome in an adult. Long term follow up of a patient with vascular and cardiac complications. American Journal of Medical Genetics, 78(2), 160-164.
Robertson, S. P., O'Day, K., & Bankier, A. (1998). The 4q-syndrome: Further delineation of the minimal critical region. Clinical Genetics, 53(1), 70-73.

1997

Robertson, S. P., Gunn, T., Allen, B., Chapman, C., & Becroft, D. M. O. (1997). Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a 4-generation kindred. American Journal of Medical Genetics, 71(3), 341-347.
Robertson, S. P., Tsang, B., & Aftimos, S. (1997). Cerebral infarction in Noonan syndrome. American Journal of Medical Genetics, 71(1), 111-114.
Simmons, D., & Robertson, S. P. (1997). Influence of maternal insulin treatment on the infants of women with gestational diabetes. Diabetic Medicine, 14(9), 762-765.