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Author/Creator Shaw, Marie

1. Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Issue 8 (2nd June 2020)

Authors:
Thai, Monica H. N.; Gardner, Alison; Redpath, Laura; Mattiske, Tessa; Dearsley, Oliver; Shaw, Marie; Vulto‐van Silfhout, Anneke T.; Pfundt, Rolph; Dixon, Joanne; McGaughran, Julie; Pérez‐Jurado, Luis A.; Gécz, Jozef; Shoubridge, Cheryl
Journal:
Human mutation
Issue:
Volume 41:Issue 8(2020)
Page Start:
1407
Record Type:
Journal Article
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2. Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1. Issue 12 (10th September 2015)

Authors:
Guy, Michael P.; Shaw, Marie; Weiner, Catherine L.; Hobson, Lynne; Stark, Zornitza; Rose, Katherine; Kalscheuer, Vera M.; Gecz, Jozef; Phizicky, Eric M.
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1176
Record Type:
Journal Article
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3. Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability. Issue 7 (3rd May 2021)

Authors:
Field, Michael J.; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A.; Ewans, Lisa J.; Ivancevic, Atma M.; Dudding‐Byth, Tracy; Carroll, Renée; Kroes, Thessa; Gardner, Alison E.; Sullivan, Patricia; Ha, Thuong T.; Schwartz, Charles E.; Cowley, Mark J.; Dinger, Marcel E.; Palmer, E...
Journal:
Human mutation
Issue:
Volume 42:Issue 7(2021)
Page Start:
835
Record Type:
Journal Article
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4. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Issue 12 (20th July 2016)

Authors:
Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, C...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 12(2016)
Page Start:
820
Record Type:
Journal Article
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5. FOXP1 mutations cause intellectual disability and a recognizable phenotype2. Issue 12 (24th September 2013)

Authors:
Le Fevre, Anna K.; Taylor, Sharelle; Malek, Neva H.; Horn, Denise; Carr, Christopher W.; Abdul‐Rahman, Omar A.; O'Donnell, Sherindan; Burgess, Trent; Shaw, Marie; Gecz, Jozef; Bain, Nicole; Fagan, Kerry; Hunter, Matthew F.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3166
Record Type:
Journal Article
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6. FOXP1 mutations cause intellectual disability and a recognizable phenotype2. Issue 12 (24th September 2013)

Authors:
Le Fevre, Anna K.; Taylor, Sharelle; Malek, Neva H.; Horn, Denise; Carr, Christopher W.; Abdul‐Rahman, Omar A.; O'Donnell, Sherindan; Burgess, Trent; Shaw, Marie; Gecz, Jozef; Bain, Nicole; Fagan, Kerry; Hunter, Matthew F.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3166
Record Type:
Journal Article
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7. Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment. Issue 11 (29th July 2019)

Authors:
Quartier, Angélique; Courraud, Jérémie; Thi Ha, Thuong; McGillivray, George; Isidor, Bertrand; Rose, Katherine; Drouot, Nathalie; Savidan, Marie‐Armel; Feger, Claire; Jagline, Hélène; Chelly, Jamel; Shaw, Marie; Laumonnier, Frédéric; Gecz, Jozef; Mandel, Jean‐Louis; Piton, Amélie
Journal:
Human mutation
Issue:
Volume 40:Issue 11(2019)
Page Start:
2021
Record Type:
Journal Article
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8. Targeted Next‐Generation Sequencing Analysis of 1, 000 Individuals with Intellectual Disability. Issue 12 (30th September 2015)

Authors:
Grozeva, Detelina; Carss, Keren; Spasic‐Boskovic, Olivera; Tejada, Maria‐Isabel; Gecz, Jozef; Shaw, Marie; Corbett, Mark; Haan, Eric; Thompson, Elizabeth; Friend, Kathryn; Hussain, Zaamin; Hackett, Anna; Field, Michael; Renieri, Alessandra; Stevenson, Roger; Schwartz, Charles; Floyd, James A.B.; ...
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1197
Record Type:
Journal Article
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