Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A

Por Ithychanda, Sujay S., Dou, Kevin, Robertson, Stephen P., Qin, Jun
Publicado no J Biol Chem (2017)

Cantu syndrome and hypopituitarism: implications for endocrine monitoring

Por Theis, Nicholas J, Calvert, Toby, McIntyre, Peter, Robertson, Stephen P, Wheeler, Benjamin J
Publicado no Endocrinol Diabetes Metab Case Rep (2019)

Linkage of Otopalatodigital Syndrome Type 2 (OPD2) to Distal Xq28: Evidence for Allelism with OPD1

Por Robertson, Stephen P., Walsh, Sinead, Oldridge, Michael, Gunn, Tania, Becroft, David, Wilkie, Andrew O. M.
Publicado em 2001

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

Por Mazzaschi, Roberto L. P., Taylor, Juliet, Robertson, Stephen P., Love, Donald R., George, Alice M.
Publicado em 2014

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family

Por Cameron-Christie, Sophia R., Wilde, Justin, Gray, Andrew, Tankard, Rick, Bahlo, Melanie, Markie, David, Evans, Helen M., Robertson, Stephen P.
Publicado no BMC Med Genomics (2018)

Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression

Por Lind, Thomas, Lugano, Roberta, Gustafson, Ann-Marie, Norgård, Maria, van Haeringen, Arie, Dimberg, Anna, Melhus, Håkan, Robertson, Stephen P., Andersson, Göran
Publicado no Bone Rep (2018)

The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

Por Campeau, Philippe M, Lu, James T, Dawson, Brian C, Fokkema, Ivo F A C, Robertson, Stephen P, Gibbs, Richard A, Lee, Brendan H
Publicado em 2012

Association of mutations in FLNA with craniosynostosis

Por Fennell, Nathalie, Foulds, Nicola, Johnson, Diana S, Wilson, Louise C, Wyatt, Michelle, Robertson, Stephen P, Johnson, David, Wall, Steven A, Wilkie, Andrew OM
Publicado no Eur J Hum Genet (2015)

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

Por Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne
Publicado no Hum Mutat (2017)

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

Por Gray, Mary J, Kim, Chong Ae, Bertola, Debora Romeo, Arantes, Paula Ricci, Stewart, Helen, Simpson, Michael A, Irving, Melita D, Robertson, Stephen P
Publicado em 2012

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Por Twigg, Stephen R. F., Kan, Rui, Babbs, Christian, Bochukova, Elena G., Robertson, Stephen P., Wall, Steven A., Morriss-Kay, Gillian M., Wilkie, Andrew O. M.
Publicado em 2004

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

Por O’Neill, Adam C., Kyrousi, Christina, Einsiedler, Melanie, Burtscher, Ingo, Drukker, Micha, Markie, David M., Kirk, Edwin P., Götz, Magdalena, Robertson, Stephen P., Cappello, Silvia
Publicado no Front Cell Neurosci (2018)

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

Por Driver, Sean G. W., Jackson, Meremaihi R., Richter, Konrad, Tomlinson, Paul, Brockway, Ben, Halliday, Benjamin J., Markie, David M., Robertson, Stephen P., Wade, Emma M.
Publicado no Eur J Hum Genet (2019)

RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape

Por Gay, Olivia, Gilquin, Benoît, Nakamura, Fumihiko, Jenkins, Zandra A., McCartney, Rosannah, Krakow, Deborah, Deshiere, Alexandre, Assard, Nicole, Hartwig, John H., Robertson, Stephen P., Baudier, Jacques
Publicado em 2011

ECE2 regulates neurogenesis and neuronal migration during human cortical development

Por Buchsbaum, Isabel Y, Kielkowski, Pavel, Giorgio, Grazia, O'Neill, Adam C, Di Giaimo, Rossella, Kyrousi, Christina, Khattak, Shahryar, Sieber, Stephan A, Robertson, Stephen P, Cappello, Silvia
Publicado no EMBO Rep (2020)

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Por Mansour, Sahar, Swinkels, Marielle, Terhal, Paulien A, Wilson, Louise C, Rich, Philip, Van Maldergem, Lionel, Zwijnenburg, Petra JG, Hall, Christine M, Robertson, Stephen P, Newbury-Ecob, Ruth
Publicado em 2012

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q(10) Deficiency in a Female Sib-Pair

Por Jacobsen, Jessie C., Whitford, Whitney, Swan, Brendan, Taylor, Juliet, Love, Donald R., Hill, Rosamund, Molyneux, Sarah, George, Peter M., Mackay, Richard, Robertson, Stephen P., Snell, Russell G., Lehnert, Klaus
Publicado no JIMD Rep (2017)

Accelerated decline in lung function in cigarette smokers is associated with TP53/HDM2 polymorphisms

Por Hancox, Robert J, Poulton, Richie, Welch, David, Olova, Nelly, McLachlan, Christene R, Greene, Justina M, Sears, Malcolm R, Caspi, Avshalom, Moffitt, Terrie E., Robertson, Stephen P., Braithwaite, Antony W.
Publicado em 2009

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

Por Bunn, Kieran J., Daniel, Phil, Rösken, Heleen S., O’Neill, Adam C., Cameron-Christie, Sophia R., Morgan, Tim, Brunner, Han G., Lai, Angeline, Kunst, Henricus P.M., Markie, David M., Robertson, Stephen P.
Publicado no Am J Hum Genet (2015)

Internalizing Disorders and Leukocyte Telomere Erosion: A Prospective Study of Depression, Generalized Anxiety Disorder and Post-Traumatic Stress Disorder

Por Shalev, Idan, Moffitt, Terrie E., Braithwaite, Antony W., Danese, Andrea, Fleming, Nicholas I., Goldman-Mellor, Sidra, Harrington, HonaLee, Houts, Renate M., Israel, Salomon, Poulton, Richie, Robertson, Stephen P., Sugden, Karen, Williams, Benjamin, Caspi, Avshalom
Publicado em 2014