| Year |
Citation |
Score |
| Low-probability matches (unlikely to be authored by this person) |
| 2023 |
Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, et al. Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European Journal of Human Genetics : Ejhg. PMID 38040915 DOI: 10.1038/s41431-023-01499-2 |
0.01 |
|
| 2023 |
Salem J, Robertson S, Paul N, Balagamage A, Awan H. Differential Attainment Within the Specialised Foundation Programme: Creating an Accessible Mentorship Scheme to Increase Diversity Within Academic Medicine. Cureus. 15: e47700. PMID 37899901 DOI: 10.7759/cureus.47700 |
0.01 |
|
| 2023 |
Missen S, Wilson C, Potter H, Vincent AL, Murphy R, Roxburgh R, Rodrigues M, Poke G, Robertson SP, Thorburn DR, Glamuzina E. Mitochondrial disease in New Zealand: a nationwide prevalence study. Internal Medicine Journal. PMID 37732891 DOI: 10.1111/imj.16211 |
0.01 |
|
| 2023 |
Bressan C, Snapyan M, Snapyan M, Klaus J, di Matteo F, Robertson SP, Treutlein B, Parent M, Cappello S, Saghatelyan A. Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia. Embo Molecular Medicine. e16908. PMID 37609821 DOI: 10.15252/emmm.202216908 |
0.01 |
|
| 2023 |
Avery N, Fukushima K, Guan G, Praganta J, Rich A, Vincent M, Robertson S. Familial Aggregation of Keratinising Desquamative Squamous Metaplasia in the Urinary Tract. Bju International. PMID 37594458 DOI: 10.1111/bju.16160 |
0.01 |
|
| 2023 |
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, ... ... Robertson SP, et al. 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. PMID 37586838 DOI: 10.1136/jmg-2023-109141 |
0.01 |
|
| 2023 |
Robertson SM, Schmid RB, Lundgren JG. Estimating plant biomass in agroecosystems using a drop-plate meter. Peerj. 11: e15740. PMID 37547713 DOI: 10.7717/peerj.15740 |
0.01 |
|
| 2023 |
Wade EM, Goodin EA, Wang Y, Morgan T, Callon KE, Watson M, Daniel PB, Cornish J, McCulloch CA, Robertson SP. filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function. Bone Reports. 18: 101668. PMID 36909664 DOI: 10.1016/j.bonr.2023.101668 |
0.01 |
|
| 2023 |
Robertson SM. Moth community among apples during bloom in Northwest Arkansas: likely pollinators and activity periods. Journal of Economic Entomology. PMID 36895196 DOI: 10.1093/jee/toad045 |
0.01 |
|
| 2023 |
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, et al. Nosology of genetic skeletal disorders: 2023 revision. American Journal of Medical Genetics. Part A. PMID 36779427 DOI: 10.1002/ajmg.a.63132 |
0.01 |
|
| 2022 |
Guiney H, Walker R, Broadbent J, Caspi A, Goodin E, Kokaua J, Moffitt TE, Robertson S, Theodore R, Poulton R, Endre Z. Kidney-Function Trajectories From Young Adulthood to Midlife: Identifying Risk Strata and Opportunities for Intervention. Kidney International Reports. 8: 51-63. PMID 36644353 DOI: 10.1016/j.ekir.2022.10.005 |
0.01 |
|
| 2022 |
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, ... ... Robertson S, et al. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation. PMID 35904121 DOI: 10.1002/humu.24446 |
0.01 |
|
| 2022 |
O'Neill AC, Uzbas F, Antognolli G, Merino F, Draganova K, Jäck A, Zhang S, Pedini G, Schessner JP, Cramer K, Schepers A, Metzger F, Esgleas M, Smialowski P, Guerrini R, ... ... Robertson SP, et al. Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity. Science (New York, N.Y.). 376: eabf9088. PMID 35709258 DOI: 10.1126/science.abf9088 |
0.01 |
|
| 2022 |
Zieba J, Forlenza KN, Heard K, Martin JH, Bosakova M, Cohn DH, Robertson SP, Krejci P, Krakow D. Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model. Bone Research. 10: 37. PMID 35474298 DOI: 10.1038/s41413-022-00200-5 |
0.01 |
|
| 2022 |
Tessadori F, Duran K, Knapp K, Fellner M, Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, ... ... Robertson SP, et al. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. American Journal of Human Genetics. PMID 35202563 DOI: 10.1016/j.ajhg.2022.02.003 |
0.01 |
|
| 2022 |
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, ... ... Robertson S, et al. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics. PMID 35064218 DOI: 10.1038/s41588-022-01013-2 |
0.01 |
|
| 2022 |
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, ... ... Robertson S, et al. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Hgg Advances. 3: 100075. PMID 35047860 DOI: 10.1016/j.xhgg.2021.100075 |
0.01 |
|
| 2022 |
Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, et al. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European Journal of Human Genetics : Ejhg. PMID 34992252 DOI: 10.1038/s41431-021-01018-1 |
0.01 |
|
| 2021 |
Kyrousi C, O'Neill AC, Brazovskaja A, He Z, Kielkowski P, Coquand L, Di Giaimo R, D' Andrea P, Belka A, Forero Echeverry A, Mei D, Lenge M, Cruceanu C, Buchsbaum IY, Khattak S, ... ... Robertson SP, et al. Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity. Nature Communications. 12: 6298. PMID 34728600 DOI: 10.1038/s41467-021-26447-w |
0.01 |
|
| 2021 |
Cundy T, Vincent A, Robertson S. Does brittle cornea syndrome have a bone fragility phenotype? Bone Reports. 15: 101124. PMID 34522702 DOI: 10.1016/j.bonr.2021.101124 |
0.01 |
|
| 2021 |
Robertson SH, Jutkiewicz EM. Effects of food restriction on the conditioned reinforcing properties of an opioid-associated stimulus. Behavioural Pharmacology. PMID 34320518 DOI: 10.1097/FBP.0000000000000645 |
0.01 |
|
| 2021 |
Robertson SM, Dowling APG, Wiedenmann RN, Joshi NK, Westerman EL. Nocturnal Pollinators Significantly Contribute to Apple Production. Journal of Economic Entomology. PMID 34293132 DOI: 10.1093/jee/toab145 |
0.01 |
|
| 2021 |
Wade EM, Jenkins ZA, Morgan T, Gimenez G, Gibson H, Peng H, Sanchez Russo R, Skraban CM, Bedoukian E, Robertson SP. Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics. Part A. PMID 34272929 DOI: 10.1002/ajmg.a.62424 |
0.01 |
|
| 2021 |
Rumping L, Wessels MW, Postma AV, van Schuppen J, van Slegtenhorst MA, Saris JJ, van Tintelen JP, Robertson SP, Alders M, Maas SM, Deprez RHL. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant. American Journal of Medical Genetics. Part A. PMID 34254723 DOI: 10.1002/ajmg.a.62417 |
0.01 |
|
| 2021 |
Pham DH, Pitman MR, Kumar R, Jolly L, Schulz R, Gardner A, de Nys R, Heron SE, Corbett MA, Kothur K, Gill D, Rajagopalan S, Kolc K, Halliday BJ, Robertson SP, et al. INTEGRATED IN SILICO AND EXPERIMENTAL ASSESSMENT OF DISEASE-RELEVANCE OF PROTOCADHERIN 19 (PCDH19) MISSENSE VARIANTS. Human Mutation. PMID 34082468 DOI: 10.1002/humu.24237 |
0.01 |
|
| 2021 |
Wade EM, Parthasarathy P, Mi J, Morgan T, Wollnik B, Robertson SP, Cundy T. Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia. European Journal of Human Genetics : Ejhg. PMID 33967277 DOI: 10.1038/s41431-021-00902-0 |
0.01 |
|
| 2021 |
Fukushima K, Parthasarathy P, Wade EM, Morgan T, Gowrishankar K, Markie DM, Robertson SP. Intragenic Deletions in Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome. Genes. 12. PMID 33916386 DOI: 10.3390/genes12040528 |
0.01 |
|
| 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 |
0.01 |
|
| 2021 |
Robertson S, Rice K, Jutkiewicz E. The Effects of Delta Opioid Receptors Activation on the Acquisition of Responding for an Opioid‐associated Stimulus The Faseb Journal. 35. DOI: 10.1096/FASEBJ.2021.35.S1.03293 |
0.01 |
|
| 2020 |
Dissanayake R, Senanayake MP, Fernando J, Robertson SP, Dissanayake VHW, Sirisena ND. Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. American Journal of Medical Genetics. Part A. PMID 33372358 DOI: 10.1002/ajmg.a.62058 |
0.01 |
|
| 2020 |
Mi J, Parthasarathy P, Halliday BJ, Morgan T, Dean J, Nowaczyk MJM, Markie D, Robertson SP, Wade EM. Deletion of Exon 1 in in Osteopathia Striata with Cranial Sclerosis. Genes. 11. PMID 33265914 DOI: 10.3390/genes11121439 |
0.01 |
|
| 2020 |
Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, Jackson MR, Wade EM, Robertson S, White SM, Heller R, Chase A, Baralle D, Douglas AGL. Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics : Ejhg. PMID 33223528 DOI: 10.1038/s41431-020-00766-w |
0.01 |
|
| 2020 |
Daniel S, Renwick M, Chau VQ, Datta S, Maddineni P, Zode G, Wade EM, Robertson SP, Petroll WM, Hulleman JD. Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity. Journal of Molecular Medicine (Berlin, Germany). PMID 32964303 DOI: 10.1007/s00109-020-01974-z |
0.01 |
|
| 2020 |
Bach A, Mi J, Hunter M, Halliday BJ, García-Miñaúr S, Sperotto F, Trevisson E, Markie D, Morison IM, Shinawi M, Willis DN, Robertson SP. Wilms tumor in patients with osteopathia striata with cranial sclerosis. European Journal of Human Genetics : Ejhg. PMID 32879452 DOI: 10.1038/s41431-020-00718-4 |
0.01 |
|
| 2020 |
Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, et al. Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Human Mutation. PMID 32623794 DOI: 10.1002/humu.24071 |
0.01 |
|
| 2020 |
Kortüm F, Niceta M, Magliozzi M, Kubat KD, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, et al. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. European Journal of Medical Genetics. 103996. PMID 32622958 DOI: 10.1016/j.ejmg.2020.103996 |
0.01 |
|
| 2020 |
Caron NR, Chongo M, Hudson M, Arbour L, Wasserman WW, Robertson S, Correard S, Wilcox P. Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts. Frontiers in Public Health. 8: 111. PMID 32391301 DOI: 10.3389/fpubh.2020.00111 |
0.01 |
|
| 2020 |
Buchsbaum IY, Kielkowski P, Giorgio G, O'Neill AC, Di Giaimo R, Kyrousi C, Khattak S, Sieber SA, Robertson SP, Cappello S. ECE2 regulates neurogenesis and neuronal migration during human cortical development. Embo Reports. e48204. PMID 32207244 DOI: 10.15252/embr.201948204 |
0.01 |
|
| 2020 |
Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson L, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry KT, Robertson SP, Andersen EF, El-Hattab AW. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Human Mutation. PMID 32112660 DOI: 10.1002/humu.24009 |
0.01 |
|
| 2020 |
Wade EM, Halliday BJ, Jenkins ZA, O'Neill AC, Robertson SP. The X-linked filaminopathies: synergistic insights from clinical and molecular analysis. Human Mutation. PMID 32108395 DOI: 10.1002/humu.24002 |
0.01 |
|
| 2020 |
Robertson SH, Jutkiewicz EM. Effects of dose on acquisition and persistence of a new response for a remifentanil-associated stimulus. Behavioural Pharmacology. PMID 32058349 DOI: 10.1097/Fbp.0000000000000550 |
0.01 |
|
| 2020 |
Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH. Expanding the Molecular and Clinical Phenotypes of FUT8-CDG. Journal of Inherited Metabolic Disease. PMID 32049367 DOI: 10.1002/jimd.12221 |
0.01 |
|
| 2020 |
Peng H, Jenkins ZA, White R, Connors S, Hunter MF, Ronan A, Zankl A, Markie DM, Daniel PB, Robertson SP. An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia. The Journal of Clinical Endocrinology and Metabolism. PMID 31970420 DOI: 10.1210/clinem/dgaa034 |
0.01 |
|
| 2019 |
Driver SGW, Jackson MR, Richter K, Tomlinson P, Brockway B, Halliday BJ, Markie DM, Robertson SP, Wade EM. Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics : Ejhg. PMID 31792352 DOI: 10.1038/s41431-019-0546-7 |
0.01 |
|
| 2019 |
Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ. Cantu syndrome and hypopituitarism: implications for endocrine monitoring. Endocrinology, Diabetes & Metabolism Case Reports. 2019. PMID 31743099 DOI: 10.1530/EDM-19-0103 |
0.01 |
|
| 2019 |
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Nosology and classification of genetic skeletal disorders: 2019 revision. American Journal of Medical Genetics. Part A. PMID 31633310 DOI: 10.1002/Ajmg.A.61366 |
0.01 |
|
| 2019 |
Gowans LJJ, Cameron-Christie S, Slayton RL, Busch T, Romero-Bustillos M, Eliason S, Sweat M, Sobreira N, Yu W, Kantaputra PN, Wohler E, Adeyemo WL, Lachke SA, Anand D, Campbell C, ... ... Robertson SP, et al. Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus. Frontiers in Genetics. 10: 800. PMID 31616463 DOI: 10.3389/Fgene.2019.00800 |
0.01 |
|
| 2019 |
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, ... ... Robertson SP, et al. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. American Journal of Human Genetics. 105: 669. PMID 31491409 DOI: 10.1016/j.ajhg.2019.08.007 |
0.01 |
|
| 2019 |
Sun X, Guo Q, Wei W, Robertson S, Yuan Y, Luo X. Current Progress on MicroRNA-Based Gene Delivery in the Treatment of Osteoporosis and Osteoporotic Fracture. International Journal of Endocrinology. 2019: 6782653. PMID 30962808 DOI: 10.1155/2019/6782653 |
0.01 |
|
| 2019 |
Klaus J, Kanton S, Kyrousi C, Ayo-Martin AC, Di Giaimo R, Riesenberg S, O'Neill AC, Camp JG, Tocco C, Santel M, Rusha E, Drukker M, Schroeder M, Götz M, Robertson SP, et al. Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia. Nature Medicine. PMID 30858616 DOI: 10.1038/S41591-019-0371-0 |
0.01 |
|
| 2019 |
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, ... ... Robertson SP, et al. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30696996 DOI: 10.1038/S41436-018-0368-Y |
0.01 |
|
| 2018 |
Cameron-Christie SR, Wilde J, Gray A, Tankard R, Bahlo M, Markie D, Evans HM, Robertson SP. Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family. Bmc Medical Genomics. 11: 121. PMID 30563518 DOI: 10.1186/s12920-018-0440-0 |
0.01 |
|
| 2018 |
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, ... ... Robertson SP, et al. A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. Cell Reports. 25: 2729-2741.e6. PMID 30517861 DOI: 10.1016/J.Celrep.2018.11.029 |
0.01 |
|
| 2018 |
Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, ... Robertson SP, et al. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. Nature Genetics. PMID 30478443 DOI: 10.1038/S41588-018-0274-X |
0.01 |
|
| 2018 |
van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, ... ... Robertson SP, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30349098 DOI: 10.1038/S41436-018-0330-Z |
0.01 |
|
| 2018 |
Xu X, Tupy S, Robertson S, Miller AL, Correll D, Tivis R, Nigg CR. Successful adherence and retention to daily monitoring of physical activity: Lessons learned. Plos One. 13: e0199838. PMID 30235221 DOI: 10.1371/Journal.Pone.0199838 |
0.01 |
|
| 2018 |
Robertson SP, Hindmarsh JH, Berry S, Cameron VA, Cox MP, Dewes O, Doughty RN, Gray G, Jacobsen JC, Laurence A, Matisoo-Smith E, Morton S, Shelling AN, Sika-Paotonu D, Rolleston A, et al. Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand. The New Zealand Medical Journal. 131: 81-89. PMID 30116069 |
0.01 |
|
| 2018 |
Lind T, Lugano R, Gustafson AM, Norgård M, van Haeringen A, Dimberg A, Melhus H, Robertson SP, Andersson G. Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy overexpression. Bone Reports. 9: 27-36. PMID 30003121 DOI: 10.1016/j.bonr.2018.06.006 |
0.01 |
|
| 2018 |
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludkig K, Trevisson E, ... ... Robertson SP, et al. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. American Journal of Human Genetics. PMID 29805041 DOI: 10.1016/j.ajhg.2018.04.008 |
0.01 |
|
| 2018 |
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. Plos Genetics. 14: e1007281. PMID 29738522 DOI: 10.1371/journal.pgen.1007281 |
0.01 |
|
| 2018 |
Baudier J, Jenkins ZA, Robertson SP. The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease. Journal of Cell Science. 131. PMID 29654161 DOI: 10.1242/jcs.213959 |
0.01 |
|
| 2018 |
O'Neill AC, Kyrousi C, Einsiedler M, Burtscher I, Drukker M, Markie DM, Kirk EP, Götz M, Robertson SP, Cappello S. Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex. Frontiers in Cellular Neuroscience. 12: 57. PMID 29593499 DOI: 10.3389/Fncel.2018.00057 |
0.01 |
|
| 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 |
0.01 |
|
| 2018 |
Robertson SH, Rasmussen EB. Comparison of Potentially Real versus Hypothetical Food Outcomes in Delay and Probability Discounting Tasks. Behavioural Processes. PMID 29366752 DOI: 10.1016/J.Beproc.2018.01.014 |
0.01 |
|
| 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 |
0.01 |
|
| 2017 |
Robertson SH, Rasmussen EB. Effects of a cafeteria diet on delay discounting in adolescent and adult rats: Alterations on dopaminergic sensitivity. Journal of Psychopharmacology (Oxford, England). 269881117735750. PMID 29067887 DOI: 10.1177/0269881117735750 |
0.01 |
|
| 2017 |
Evans HM, Asher MI, Cameron-Christie S, Farthing S, McCall J, Robertson SP, Wong H, Morreau PN. Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New Zealand. Journal of Pediatric Gastroenterology and Nutrition. PMID 29036008 DOI: 10.1097/MPG.0000000000001781 |
0.01 |
|
| 2017 |
Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, ... ... Robertson SP, et al. Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. Human Mutation. PMID 29024177 DOI: 10.1002/humu.23355 |
0.01 |
|
| 2017 |
Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, et al. Mutations in the netrin-1 gene cause congenital mirror movements. The Journal of Clinical Investigation. PMID 28945198 DOI: 10.1172/Jci95442 |
0.01 |
|
| 2017 |
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, ... ... Robertson SP, et al. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. American Journal of Human Genetics. 101: 139-148. PMID 28686853 DOI: 10.1016/J.Ajhg.2017.06.002 |
0.01 |
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| 2017 |
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, ... ... Robertson SP, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications. 8: 16077. PMID 28681861 DOI: 10.1038/Ncomms16077 |
0.01 |
|
| 2017 |
Bernkopf M, Hunt D, Koelling N, Morgan T, Collins AL, Fairhurst J, Robertson SP, Douglas AGL, Goriely A. 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. PMID 28639312 DOI: 10.1002/humu.23281 |
0.01 |
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| 2017 |
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, ... ... Robertson SP, et al. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics. Part A. PMID 28498505 DOI: 10.1002/ajmg.a.38267 |
0.01 |
|
| 2017 |
Ithychanda SS, Dou K, Robertson SP, Qin J. Structural and thermodynamic basis of a Frontometaphyseal Dysplasia Mutation in Filamin A. The Journal of Biological Chemistry. PMID 28348077 DOI: 10.1074/jbc.M117.776740 |
0.01 |
|
| 2017 |
Robertson SH, Boomhower SR, Rasmussen EB. High-fat diet alters weight, caloric intake, and haloperidol sensitivity in the context of effort-based responding. Behavioural Pharmacology. PMID 28177981 DOI: 10.1097/Fbp.0000000000000295 |
0.01 |
|
| 2016 |
Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, ... ... Robertson SP, et al. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. American Journal of Human Genetics. PMID 27426733 DOI: 10.1016/j.ajhg.2016.05.024 |
0.01 |
|
| 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 |
0.01 |
|
| 2016 |
Rasmussen EB, Robertson SH, Rodriguez LR. The Utility of Behavioral Economics in Expanding the Free-Feed Model of Obesity. Behavioural Processes. PMID 26923097 DOI: 10.1016/J.Beproc.2016.02.014 |
0.01 |
|
| 2015 |
Gascón S, Murenu E, Masserdotti G, Ortega F, Russo GL, Petrik D, Deshpande A, Heinrich C, Karow M, Robertson SP, Schroeder T, Beckers J, Irmler M, Berndt C, Angeli JP, et al. Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming. Cell Stem Cell. PMID 26748418 DOI: 10.1016/J.Stem.2015.12.003 |
0.01 |
|
| 2015 |
Thomson WM, Zeng J, Broadbent JM, Foster Page LA, Shalev I, Moffitt TE, Caspi A, Williams SM, Braithwaite AW, Robertson SP, Poulton R. Telomere length and periodontal attachment loss: a prospective cohort study. Journal of Clinical Periodontology. PMID 26713854 DOI: 10.1111/Jcpe.12499 |
0.01 |
|
| 2015 |
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, ... ... Robertson SP, et al. Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. American Journal of Human Genetics. 97: 837-47. PMID 26637977 DOI: 10.1016/J.Ajhg.2015.11.001 |
0.01 |
|
| 2015 |
Costa LS, Pegler SP, Lellis RF, Krebs VL, Robertson S, Morgan T, Honjo RS, Bertola DR, Kim CA. Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. Revista Da AssociaçãO MéDica Brasileira (1992). 61: 407-10. PMID 26603002 DOI: 10.1590/1806-9282.61.05.407 |
0.01 |
|
| 2015 |
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. Case Reports in Genetics. 2015: 454526. PMID 26587300 DOI: 10.1155/2015/454526 |
0.01 |
|
| 2015 |
Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K. Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. Journal of Inherited Metabolic Disease. PMID 26497564 DOI: 10.1007/s10545-015-9897-6 |
0.01 |
|
| 2015 |
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, ... ... Robertson SP, et al. 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: 483-92. PMID 26320891 DOI: 10.1016/J.Ajhg.2015.08.001 |
0.01 |
|
| 2015 |
Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC. Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics. Part A. 167: 1215-22. PMID 25899317 DOI: 10.1002/ajmg.a.37044 |
0.01 |
|
| 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 |
0.01 |
|
| 2015 |
Bertola D, Passos-Bueno MR, Pereira A, Kim C, Morgan T, Robertson SP. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. American Journal of Medical Genetics. Part A. 167: 1161-4. PMID 25820619 DOI: 10.1002/ajmg.a.36981 |
0.01 |
|
| 2015 |
Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics. 96: 623-30. PMID 25817014 DOI: 10.1016/j.ajhg.2015.02.010 |
0.01 |
|
| 2015 |
Franz EA, Chiaroni-Clarke R, Woodrow S, Glendining KA, Jasoni CL, Robertson SP, Gardner RJ, Markie D. Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. Journal of the Neurological Sciences. 351: 140-5. PMID 25813273 DOI: 10.1016/j.jns.2015.03.006 |
0.01 |
|
| 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 |
0.01 |
|
| 2014 |
Reinstein E, Morris SA, Rimoin DL, Robertson SP, Lacro RV. Arterial tortuosity in patients with Filamin A- associated vascular aneurysms. American Journal of Medical Genetics. Part A. 164: 2961-3. PMID 25124759 DOI: 10.1002/ajmg.a.36717 |
0.01 |
|
| 2014 |
Bunn KJ, Lai A, Al-Ani A, Farella M, Craw S, Robertson SP. An osteosclerotic form of Robinow syndrome. American Journal of Medical Genetics. Part A. 164: 2638-42. PMID 25045061 DOI: 10.1002/ajmg.a.36677 |
0.01 |
|
| 2014 |
Gray MJ, van Kogelenberg M, Beddow R, Morgan T, Wordsworth P, Shears DJ, Robertson SP, Hurst JA. A new acro-osteolysis syndrome caused by duplications including PTHLH. Journal of Human Genetics. 59: 484-7. PMID 25007883 DOI: 10.1038/jhg.2014.58 |
0.01 |
|
| 2014 |
Mazzaschi RL, Taylor J, Robertson SP, Love DR, George AM. A turner syndrome patient carrying a mosaic distal x chromosome marker. Case Reports in Genetics. 2014: 597314. PMID 24778889 DOI: 10.1155/2014/597314 |
0.01 |
|
| 2014 |
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, ... ... Robertson SP, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/J.Ajhg.2014.03.015 |
0.01 |
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| 2013 |
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, ... ... Robertson SP, et al. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nature Genetics. 45: 1300-8. PMID 24056717 DOI: 10.1038/Ng.2765 |
0.01 |
|
| 2013 |
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, ... ... Robertson SP, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain : a Journal of Neurology. 136: 3378-94. PMID 24056535 DOI: 10.1093/Brain/Awt249 |
0.01 |
|
| 2013 |
Griffiths AL, Heggie A, Holman S, Robertson SP, White SM. Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia. The Journal of Craniofacial Surgery. 24: 508-10. PMID 23524727 DOI: 10.1097/SCS.0b013e3182800f04 |
0.01 |
|
| 2013 |
Fry AE, Kerr MP, Gibbon F, Turnpenny PD, Hamandi K, Stoodley N, Robertson SP, Pilz DT. Neuropsychiatric disease in patients with periventricular heterotopia. The Journal of Neuropsychiatry and Clinical Neurosciences. 25: 26-31. PMID 23487190 DOI: 10.1176/appi.neuropsych.11110336 |
0.01 |
|
| 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 |
0.01 |
|
| 2013 |
Herman SB, Holman SK, Robertson SP, Davidson L, Taragin B, Samanich J. Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. American Journal of Medical Genetics. Part A. 161: 594-9. PMID 23401208 DOI: 10.1002/ajmg.a.35716 |
0.01 |
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| 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 |
0.01 |
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| 2013 |
Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, ... ... Robertson SP, et al. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. European Journal of Human Genetics : Ejhg. 21: 494-502. PMID 23032111 DOI: 10.1038/ejhg.2012.209 |
0.01 |
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| 2013 |
Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, et al. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. European Journal of Human Genetics : Ejhg. 21: 55-61. PMID 22692065 DOI: 10.1038/ejhg.2012.117 |
0.01 |
|
| 2012 |
LeRoux M, De Leon JA, Kuwada NJ, Russell AB, Pinto-Santini D, Hood RD, Agnello DM, Robertson SM, Wiggins PA, Mougous JD. Quantitative single-cell characterization of bacterial interactions reveals type VI secretion is a double-edged sword. Proceedings of the National Academy of Sciences of the United States of America. 109: 19804-9. PMID 23150540 DOI: 10.1073/Pnas.1213963109 |
0.01 |
|
| 2012 |
Beasley S, Robertson S. Re: Currarinot triade. Anz Journal of Surgery. 82: 659. PMID 22943087 DOI: 10.1111/j.1445-2197.2012.06158.x |
0.01 |
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| 2012 |
Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, et al. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 79: 1244-51. PMID 22914838 DOI: 10.1212/WNL.0b013e31826aac88 |
0.01 |
|
| 2012 |
Reinstein E, Chang BS, Robertson SP, Rimoin DL, Katzir T. Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia. American Journal of Medical Genetics. Part A. 158: 1897-901. PMID 22740120 DOI: 10.1002/Ajmg.A.35455 |
0.01 |
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| 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 |
0.01 |
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| 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 |
0.01 |
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| 2012 |
Robertson SP, Kerruish N. Resolving the impasse on predictive genetic testing in minors: will more evidence be the solution? Journal of Medical Ethics. 38: 525-6; discussion 53. PMID 22518046 DOI: 10.1136/medethics-2012-100557 |
0.01 |
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| 2012 |
Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. European Journal of Human Genetics : Ejhg. 20: 1024-31. PMID 22473091 DOI: 10.1038/ejhg.2012.57 |
0.01 |
|
| 2012 |
Cardoso S, Robertson SP, Daniel PB. TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. Journal of Receptor and Signal Transduction Research. 32: 150-5. PMID 22414221 DOI: 10.3109/10799893.2012.664553 |
0.01 |
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| 2012 |
Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, et al. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics. 90: 494-501. PMID 22387013 DOI: 10.1016/j.ajhg.2012.01.003 |
0.01 |
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| 2012 |
Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H. 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 and Therapy. 32: 216-20. PMID 22354125 DOI: 10.1159/000335687 |
0.01 |
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| 2012 |
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, et al. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. American Journal of Human Genetics. 90: 282-9. PMID 22265014 DOI: 10.1016/J.Ajhg.2011.11.023 |
0.01 |
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| 2012 |
Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, ... ... Robertson SP, et al. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Human Mutation. 33: 665-73. PMID 22190451 DOI: 10.1002/humu.22012 |
0.01 |
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| 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 |
0.01 |
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| 2011 |
van Kogelenberg M, Lerone M, De Toni T, Divizia MT, de Brouwer AP, Veltman JA, van Bokhoven H, Robertson SP. A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. American Journal of Medical Genetics. Part A. 155: 3144-7. PMID 22052819 DOI: 10.1002/ajmg.a.34311 |
0.01 |
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| 2011 |
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, ... ... Robertson SP, et al. The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A. 155: 2397-408. PMID 22043478 DOI: 10.1002/ajmg.a.34178 |
0.01 |
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| 2011 |
Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, ... ... Robertson SP, et al. 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: 595-606. PMID 22019272 DOI: 10.1016/J.Ajhg.2011.09.015 |
0.01 |
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| 2011 |
Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP. 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: 1848-56. PMID 21739576 DOI: 10.1002/Ajmg.A.34057 |
0.01 |
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| 2011 |
Gay O, Gilquin B, Nakamura F, Jenkins ZA, McCartney R, Krakow D, Deshiere A, Assard N, Hartwig JH, Robertson SP, Baudier J. RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape. Proceedings of the National Academy of Sciences of the United States of America. 108: 11464-9. PMID 21709252 DOI: 10.1073/pnas.1104211108 |
0.01 |
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| 2011 |
Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics. Part A. 155: 943-68. PMID 21438135 DOI: 10.1002/Ajmg.A.33909 |
0.01 |
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| 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 |
0.01 |
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| 2011 |
Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, et al. Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. American Journal of Medical Genetics. Part A. 155: 508-18. PMID 21344641 DOI: 10.1002/ajmg.a.33885 |
0.01 |
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| 2011 |
Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. European Journal of Medical Genetics. 54: 25-8. PMID 20888935 DOI: 10.1016/j.ejmg.2010.09.010 |
0.01 |
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| 2010 |
Robertson S, White S, Garton S, White G. This Harlem life: black families and everyday life in the 1920s and 1930s. Journal of Social History. 44: 97-122. PMID 21140932 |
0.01 |
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| 2010 |
Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M, Loren DJ. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. The American Journal of Surgical Pathology. 34: 1528-43. PMID 20871226 DOI: 10.1097/PAS.0b013e3181f0ae47 |
0.01 |
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| 2010 |
Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, ... ... Robertson S, et al. 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. 152: 2543-9. PMID 20830804 DOI: 10.1002/ajmg.a.33641 |
0.01 |
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| 2010 |
Fukuzawa R, Holman SK, Chow CW, Savarirayan R, Reeve AE, Robertson SP. WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. Journal of Medical Genetics. 47: 791-4. PMID 20679664 DOI: 10.1136/jmg.2010.080663 |
0.01 |
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| 2010 |
Robertson S. Shifting the scene of the crime: sodomy and the American history of sexual violence. Journal of the History of Sexuality. 19: 223-42. PMID 20617590 DOI: 10.1353/sex.0.0093 |
0.01 |
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| 2010 |
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. American Journal of Human Genetics. 87: 146-53. PMID 20598277 DOI: 10.1016/J.Ajhg.2010.06.008 |
0.01 |
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| 2010 |
Yoshida A, Maoate K, Blakelock R, Robertson S, Beasley S. Long-term functional outcomes in children with Currarino syndrome. Pediatric Surgery International. 26: 677-81. PMID 20473613 DOI: 10.1007/s00383-010-2615-4 |
0.01 |
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| 2009 |
Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, ... Robertson SP, et al. Identification of CANT1 mutations in Desbuquois dysplasia. American Journal of Human Genetics. 85: 706-10. PMID 19853239 DOI: 10.1016/j.ajhg.2009.10.001 |
0.01 |
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| 2009 |
Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Human Molecular Genetics. 18: 4791-800. PMID 19773341 DOI: 10.1093/hmg/ddp442 |
0.01 |
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| 2009 |
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, ... ... Robertson S, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics. 41: 1016-21. PMID 19648921 DOI: 10.1038/Ng.413 |
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| 2009 |
Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I. Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscular Disorders : Nmd. 19: 485-8. PMID 19553121 DOI: 10.1016/j.nmd.2009.06.366 |
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| 2009 |
Hancox RJ, Poulton R, Welch D, Olova N, McLachlan CR, Greene JM, Sears MR, Caspi A, Moffitt TE, Robertson SP, Braithwaite AW. Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms. Human Genetics. 126: 559-65. PMID 19521721 DOI: 10.1007/S00439-009-0704-Z |
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| 2009 |
Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. 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: 1030-47. PMID 19505475 DOI: 10.1016/j.jmb.2009.06.009 |
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| 2009 |
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, ... ... Robertson SP, et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics. 41: 95-100. PMID 19079258 DOI: 10.1038/ng.270 |
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| 2008 |
Robertson SP, Poulton R. Longitudinal studies of gene-environment interaction in common diseases--good value for money? Novartis Foundation Symposium. 293: 128-37; discussion 1. PMID 18972749 |
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| 2008 |
van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. American Journal of Medical Genetics. Part A. 146: 2376-84. PMID 18698629 DOI: 10.1002/ajmg.a.32482 |
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| 2008 |
Robertson S, Poulton R. Longitudinal studies to detect genexenvironment 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 (1982). 67: 666-72; discussion 6. PMID 18508172 DOI: 10.1016/j.socscimed.2008.04.010 |
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| 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 |
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| 2008 |
Gabbett MT, Robertson SP, Broadbent R, Aftimos S, Sachdev R, Nezarati MM. Characterizing the oculoauriculofrontonasal syndrome. Clinical Dysmorphology. 17: 79-85. PMID 18388775 DOI: 10.1097/MCD.0b013e3282f449c8 |
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| 2007 |
Kerruish NJ, Campbell-Stokes PL, Gray A, Merriman TR, Robertson SP, Taylor BJ. Maternal psychological reaction to newborn genetic screening for type 1 diabetes. Pediatrics. 120: e324-35. PMID 17609310 DOI: 10.1542/peds.2006-1381 |
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| 2007 |
Khan AA, Colquhoun A, Hanley DA, Jankowski LG, Josse RG, Kendler DL, Lentle B, Leslie WD, Lewiecki EM, O'neill E, Robertson S, Syed ZA, Tanner SB, Webster D. Standards and guidelines for technologists performing central dual-energy X-ray absorptiometry. Journal of Clinical Densitometry : the Official Journal of the International Society For Clinical Densitometry. 10: 189-95. PMID 17485038 DOI: 10.1016/j.jocd.2007.01.005 |
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| 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 |
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| 2007 |
Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA. Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. Clinical Dysmorphology. 16: 27-33. PMID 17159511 DOI: 10.1097/01.mcd.0000228418.74413.52 |
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| 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 |
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| 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 |
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| 2006 |
Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 711-8. PMID 17108763 DOI: 10.1097/01.gim.0000245578.94312.1e |
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| 2006 |
Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L. A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Prenatal Diagnosis. 26: 1151-5. PMID 17009344 DOI: 10.1002/pd.1576 |
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| 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 |
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| 2006 |
Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, et al. Mutations in two regions of FLNB result in atelosteogenesis I and III. Human Mutation. 27: 705-10. PMID 16752402 DOI: 10.1002/humu.20348 |
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| 2006 |
Kendler DL, Kiebzak GM, Ambrose CG, Dinu C, Robertson S, Schmeer P, Van Pelt JL. Effect of calcium tablets on interpretation of lumbar spine DXA scans. Journal of Clinical Densitometry : the Official Journal of the International Society For Clinical Densitometry. 9: 97-104. PMID 16731438 DOI: 10.1016/j.jocd.2005.12.002 |
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| 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 |
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| 2005 |
Verloes A, Garel C, Robertson S, Le Merrer M, Baumann C. 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. 137: 199-203. PMID 16086393 DOI: 10.1002/ajmg.a.30360 |
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| 2005 |
Schader I, Robertson S, Maoate K, Beasley S. Hereditary thyroglossal duct cysts. Pediatric Surgery International. 21: 593-4. PMID 16012840 DOI: 10.1007/s00383-005-1420-y |
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| 2005 |
Robertson SP. Filamin A: phenotypic diversity. Current Opinion in Genetics & Development. 15: 301-7. PMID 15917206 DOI: 10.1016/j.gde.2005.04.001 |
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| 2004 |
Robertson SP. Molecular pathology of filamin A: diverse phenotypes, many functions. Clinical Dysmorphology. 13: 123-31. PMID 15194946 DOI: 10.1097/01.mcd.0000130235.95356.40 |
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| 2004 |
Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proceedings of the National Academy of Sciences of the United States of America. 101: 8652-7. PMID 15166289 DOI: 10.1073/pnas.0402819101 |
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| 2004 |
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics. 36: 405-10. PMID 14991055 DOI: 10.1038/Ng1319 |
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| 2003 |
Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG. 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. 122: 187-92. PMID 12966518 DOI: 10.1002/ajmg.a.20282 |
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| 2003 |
Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA. 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. 120: 157-68. PMID 12833394 DOI: 10.1002/ajmg.a.20012 |
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| 2003 |
Savarirayan R, Robertson SP, Bankier A, Rogers JG. Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Pediatric Pathology & Molecular Medicine. 22: 37-46. PMID 12687888 DOI: 10.1080/pdp.22.1.37.46 |
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| 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 |
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