Accessibility Skip to Global Navigation Skip to Local Navigation Skip to Content Skip to Search Skip to Site Map Menu



  • 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. Advance online publication.
  • 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. Advance online publication.
  • 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.


  • 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.
  • ^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page



  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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
  • 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.

^ Top of Page


  • 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.

^ Top of Page



  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page


  • 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.

^ Top of Page