Publications by authors named "Susan Huson"

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Scott R Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A Avery, Susan M Huson

Genet Med· September 2022

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, Patrice Pancza, Robert A Avery, Susan M Huson

Genet Med· August 2021

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Autism Spectrum Disorder Symptom Profile Across the RASopathies.
Marie-Maude Geoffray, Bruno Falissard, Jonathan Green, Browyn Kerr, D Gareth Evans, Susan Huson

Front Psychiatry· January 2021

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The development of the PlexiQoL: A patient-reported outcome measure for adults with neurofibromatosis type 1-associated plexiform neurofibromas.
Alice Heaney, Jeanette Wilburn, Matthew Rouse, Shannon Langmead, Jaishri O Blakeley, Susan Huson

Mol Genet Genomic Med· December 2020

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A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.
Christopher Murphy, Grace Vassallo, Emma Burkitt-Wright, Eileen Hupton, Judith Eelloo, Susan Huson

Clin Neurol Neurosurg· June 2020

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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Katherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, Yemima Berman, Jaishri Blakeley, Susan M Huson

Am J Med Genet A· June 2019

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A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1.
Alice Heaney, Jeanette Wilburn, Shannon Langmead, Jaishri Blakeley, Susan Huson

SAGE Open Med· February 2019

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C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics.
Mueez Waqar, Susan Huson, D Gareth Evans, John Ealing, Konstantina Karabatsou

J Neurosurg Spine· January 2019

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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina A Andrews, Paulina Stadnik, Susan M Huson

J Clin Invest· November 2018

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Cutaneous neurofibromas: Current clinical and pathologic issues.
Nicolas Ortonne, Pierre Wolkenstein, Jaishri O Blakeley, Bruce Korf, Scott R Plotkin, Susan Huson

Neurology· July 2018

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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina A Andrews, Paulina Stadnik, Susan M Huson

J Clin Invest· April 2018

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Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.
Shruti Garg, Ami Brooks, Amy Burns, Emma Burkitt-Wright, Bronwyn Kerr, Susan Huson

Dev Med Child Neurol· May 2017

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Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
Cecilie F Rustad, Hilde M Dahl, Naomi L Bowers, Jan C Sitek, Arvid Heiberg, Susan Huson

Am J Med Genet A· May 2017

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Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).
Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Susan Huson

JAMA Psychiatry· December 2016

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Auditory Brainstem Implantation in Neurofibromatosis Type 2: Experience From the Manchester Programme.
Richard Thomas Ramsden, Simon Richard Mackenzie Freeman, Simon Kingsley Wickham Lloyd, Andrew Thomas King, Xin Shi, Susan Mary Huson

Otol Neurotol· October 2016

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Sex bias in autism spectrum disorder in neurofibromatosis type 1.
Shruti Garg, Hein Heuvelman, Susan Huson, Hannah Tobin, Jonathan Green

J Neurodev Disord· August 2016

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Cognition in children with neurofibromatosis type 1: data from a population-based study.
Annukka Lehtonen, Shruti Garg, Stephen A Roberts, Dorothy Trump, D Gareth Evans, Susan M Huson

Dev Med Child Neurol· July 2015

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Autism spectrum disorder profile in neurofibromatosis type I.
Shruti Garg, Ellen Plasschaert, Mie-Jef Descheemaeker, Susan Huson, Martine Borghgraef

J Autism Dev Disord· June 2015

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Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Katherine A Rauen, Susan M Huson, Emma Burkitt-Wright, D Gareth Evans, Said Farschtschi

Am J Med Genet A· January 2015

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, Victoria E R Parker, Cathy Blumhorst, Susan M Huson

Am J Med Genet A· July 2014

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CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
Brigitte C Widemann, Maria T Acosta, Sylvia Ammoun, Allan J Belzberg, Andre Bernards, Susan Huson

Am J Med Genet A· March 2014

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Spinal bone defects in neurofibromatosis type I with dural ectasia: stress fractures or dysplastic? A case series.
Jenn Nee Khoo Bao, Bamikole Ogunwale, Susan M Huson, John Ealing, Richard W Whitehouse

Eur Radiol· December 2013

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Neurofibromatosis type 1 and autism spectrum disorder.
Shruti Garg, Jonathan Green, Kathy Leadbitter, Richard Emsley, Annukka Lehtonen, Susan M Huson

Pediatrics· December 2013

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Emma Mm Burkitt Wright, Emma Sach, Saba Sharif, Oliver Quarrell, Thomas Carroll, Susan M Huson

J Med Genet· September 2013

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Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study.
Shruti Garg, Annukka Lehtonen, Susan M Huson, Richard Emsley, Dorothy Trump

Dev Med Child Neurol· February 2013

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