M
Marie Shaw
Researcher at Boston Children's Hospital
Publications - 14
Citations - 2270
Marie Shaw is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: X chromosome & Intellectual disability. The author has an hindex of 10, co-authored 14 publications receiving 2034 citations. Previous affiliations of Marie Shaw include South Australia Pathology & University of Adelaide.
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Journal ArticleDOI
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S. Tarpey,Raffaella Smith,Erin Pleasance,Annabel Whibley,Sarah Edkins,Claire Hardy,Sarah O’Meara,Calli Latimer,Ed Dicks,Andrew Menzies,Phil Stephens,Matt Blow,Christopher Greenman,Yali Xue,Chris Tyler-Smith,Deborah J. Thompson,Kristian Gray,Jenny Andrews,Syd Barthorpe,Gemma Buck,Jennifer Cole,Rebecca Dunmore,David T. Jones,Mark Maddison,Tatiana Mironenko,Rachel Turner,Kelly Turrell,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,Jon W. Teague,Adam Butler,Andrew M. Jenkinson,Mingming Jia,David S. Richardson,Rebecca Shepherd,Richard Wooster,M Isabel Tejada,Francisco Martínez,Gemma L. Carvill,Rene Goliath,Arjan P.M. de Brouwer,Hans van Bokhoven,Hilde Van Esch,Jamel Chelly,Martine Raynaud,Hans-Hilger Ropers,Fatima Abidi,Anand Srivastava,James J. Cox,Ying Luo,Uma Mallya,Jenny Moon,Josef Parnau,Shehla Mohammed,John Tolmie,Cheryl Shoubridge,Mark A. Corbett,Alison Gardner,Eric Haan,Sinitdhorn Rujirabanjerd,Marie Shaw,Lucianne Vandeleur,Tod Fullston,Douglas F. Easton,Jackie Boyle,Michael Partington,Anna Hackett,Michael Field,Cindy Skinner,Roger E. Stevenson,Martin Bobrow,Gillian Turner,Charles E. Schwartz,Jozef Gecz,Jozef Gecz,F. Lucy Raymond,P. Andrew Futreal,Michael R. Stratton +79 more
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Journal ArticleDOI
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe,Kali Witherspoon,Jill A. Rosenfeld,Bregje W.M. van Bon,Bregje W.M. van Bon,Anneke T. Vulto-van Silfhout,Paolo Bosco,Kathryn Friend,Carl Baker,Serafino Buono,Lisenka E.L.M. Vissers,Janneke H M Schuurs-Hoeijmakers,Alexander Hoischen,Rolph Pfundt,Nik Krumm,Gemma L. Carvill,Deana Li,David G. Amaral,Natasha Brown,Paul J. Lockhart,Ingrid E. Scheffer,Antonino Alberti,Marie Shaw,Rosa Pettinato,Raymond C. Tervo,Nicole de Leeuw,Margot R.F. Reijnders,Beth S. Torchia,Hilde Peeters,Elizabeth A. Thompson,Elizabeth A. Thompson,Brian J. O'Roak,Marco Fichera,Marco Fichera,Jayne Y. Hehir-Kwa,Jay Shendure,Heather C Mefford,Heather C Mefford,Eric Haan,Eric Haan,Jozef Gecz,Bert B.A. de Vries,Corrado Romano,Evan E. Eichler +43 more
TL;DR: An expanded CNV morbidity map was created from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs and an integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function.
Journal ArticleDOI
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Leanne M. Dibbens,Leanne M. Dibbens,Patrick S. Tarpey,Kim Hynes,Kim Hynes,Marta A. Bayly,Ingrid E. Scheffer,Raffaella Smith,Jamee M. Bomar,Edwina Sutton,Lucianne Vandeleur,Cheryl Shoubridge,Sarah Edkins,Samantha J. Turner,Claire Stevens,Sarah O’Meara,Calli Tofts,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kelly Halliday,David T. Jones,Rebecca Lee,Mark Madison,Tatiana Mironenko,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,John Teague,Ed Dicks,Adam Butler,Andrew Menzies,Andrew M. Jenkinson,Rebecca Shepherd,James F. Gusella,Zaid Afawi,Aziz Mazarib,Miriam Y. Neufeld,Sara Kivity,Dorit Lev,Tally Lerman-Sagie,Amos D. Korczyn,Christopher P. Derry,Grant R. Sutherland,Grant R. Sutherland,Kathryn Friend,Marie Shaw,Mark A. Corbett,Hyung Goo Kim,Daniel H. Geschwind,Paul Q. Thomas,Eric Haan,Eric Haan,Stephen G Ryan,Shane McKee,Samuel F. Berkovic,P. Andrew Futreal,Michael R. Stratton,John C. Mulley,John C. Mulley,Jozef Gecz,Jozef Gecz +62 more
TL;DR: In this paper, a systematic resequencing of 737 X chromosome genes was carried out to identify different protocadherin 19 (PCDH19) gene mutations in seven families with EFMR.
Journal ArticleDOI
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
Patrick S. Tarpey,F. Lucy Raymond,Sarah O’Meara,Sarah Edkins,Jon W. Teague,Adam Butler,Ed Dicks,Claire Stevens,Calli Tofts,Tim Avis,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kristian Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Andrew M. Jenkinson,David T. Jones,Andrew Menzies,Tatiana Mironenko,Janet Perry,Keiran Raine,David S. Richardson,Rebecca Shepherd,Alexandra Small,Jennifer Varian,Sofie West,Sara Widaa,Uma Mallya,Jenny Moon,Ying Luo,Susan E. Holder,Sarah F. Smithson,Jane A. Hurst,Jill Clayton-Smith,Bronwyn Kerr,Jackie Boyle,Marie Shaw,Lucianne Vandeleur,Jayson Rodriguez,Rachel Slaugh,Douglas F. Easton,Richard Wooster,Martin Bobrow,Anand Srivastava,Roger E. Stevenson,Charles E. Schwartz,Gillian Turner,Jozef Gecz,Jozef Gecz,P. Andrew Futreal,Michael R. Stratton,Michael Partington +53 more
TL;DR: The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority.
Journal ArticleDOI
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Ingrid E. Scheffer,Samantha J. Turner,Leanne M. Dibbens,Marta A. Bayly,Kathryn Friend,Bree L. Hodgson,Linda Burrows,Marie Shaw,Chen Wei,Reinhard Ullmann,Hans-Hilger Ropers,Pierre Szepetowski,Eric Haan,Aziz Mazarib,Zaid Afawi,Miriam Y. Neufeld,P. Ian Andrews,Geoffrey Wallace,Sara Kivity,Dorit Lev,Tally Lerman-Sagie,Christopher P. Derry,Amos D. Korczyn,Jozef Gecz,John C. Mulley,Samuel F. Berkovic +25 more
TL;DR: In this article, the authors used a validated seizure questionnaire, neurological examination and review of EEG and imaging studies to determine if there was a distinctive phenotype that would enhance recognition of epilepsy and mental retardation limited to females.