Publications by authors named "Judith Allanson"

99Publications

Bedside EEG predicts longitudinal behavioural changes in disorders of consciousness.

Neuroimage Clin 2020 Aug 5;28:102372. Epub 2020 Aug 5.

School of Computing, University of Kent, Canterbury, United Kingdom; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1016/j.nicl.2020.102372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7426558PMC
August 2020

Longitudinal assessments highlight long-term behavioural recovery in disorders of consciousness.

Brain Commun 2019 16;1(1):fcz017. Epub 2019 Sep 16.

Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1093/braincomms/fcz017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924536PMC
September 2019

Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources.

Front Genet 2019 21;10:1189. Epub 2019 Nov 21.

South East Toronto Family Health Team, Department of Family and Community Medicine, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.3389/fgene.2019.01189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882282PMC
November 2019

Consciousness-specific dynamic interactions of brain integration and functional diversity.

Nat Commun 2019 10 10;10(1):4616. Epub 2019 Oct 10.

Division of Anaesthesia, School of Clinical Medicine, University of Cambridge, Addenbrooke's Hospital, Hills Rd, CB2 0SP, Cambridge, UK.

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http://dx.doi.org/10.1038/s41467-019-12658-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787094PMC
October 2019

Nablus syndrome: Easy to diagnose yet difficult to solve.

Am J Med Genet C Semin Med Genet 2018 12;178(4):447-457

Department of Genetics, CHEO, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.c.31660DOI Listing
December 2018

Methylphenidate-mediated motor control network enhancement in patients with traumatic brain injury.

Brain Inj 2018 8;32(8):1040-1049. Epub 2018 May 8.

a School of Clinical Medicine, Addenbrooke's Hospital, Division of Anaesthesia , University of Cambridge , Cambridge , UK.

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http://dx.doi.org/10.1080/02699052.2018.1469166DOI Listing
July 2019

The Gene Messenger Impact Project: An Innovative Genetics Continuing Education Strategy for Primary Care Providers.

J Contin Educ Health Prof 2016 ;36(3):178-85

Dr. Carroll: Professor, Sydney G. Frankfort Chair in Family Medicine, Department of Family and Community Medicine, Sinai Health System, University of Toronto, Toronto, Ontario, Canada. Dr. Grad: Associate Professor, McGill University, Herzl Family Practice Centre, Centre Médecine Familiale Herzl, Montréal, Quebec, Canada. Dr. Allanson: Department of Genetics, Children's Hospital of Eastern Ontario, Professor, Department of Paediatrics, University of Ottawa, Ottawa, Canada. Dr. Pluye: Full Professor, FRQS Senior Research Scholar, Department of Family Medicine, McGill University, Montréal, Quebec, Canada. Ms. Permaul: Research Associate, Ray D. Wolfe Department of Family Medicine, Sinai Health System, Toronto, Toronto, Ontario, Canada. Dr. Pimlott: Assistant Professor, University of Toronto, Family Practice Health Centre, Women's College Hospital, Toronto, Ontario, Canada. Dr. Wilson: Professor, School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1097/CEH.0000000000000079DOI Listing
February 2018

Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options.

Pediatrics 2016 06 17;137(6). Epub 2016 May 17.

Department of Family and Community Medicine, Sinai Health System, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1542/peds.2015-4143DOI Listing
June 2016

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

Am J Med Genet A 2016 10 7;170(10):2570-7. Epub 2016 May 7.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37736DOI Listing
October 2016

Public Perceptions of the Benefits and Risks of Newborn Screening.

Pediatrics 2015 Aug 13;136(2):e413-23. Epub 2015 Jul 13.

School of Population and Public Health, University of British Columbia, Vancouver, Canada; and Canadian Centre for Applied Research in Cancer Control, BC Cancer Agency, Vancouver, Canada.

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http://dx.doi.org/10.1542/peds.2015-0518DOI Listing
August 2015

Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: a matched case-control study.

Am J Med Genet A 2015 Jul 5;167(7):1525-33. Epub 2015 Apr 5.

Endocrinology Service, Department of Pediatrics, Research Center, CHU-Sainte-Justine, University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37069DOI Listing
July 2015

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Eur J Hum Genet 2015 Dec 11;23(12):1640-5. Epub 2015 Mar 11.

Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/ejhg.2015.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795202PMC
December 2015

Spectral signatures of reorganised brain networks in disorders of consciousness.

PLoS Comput Biol 2014 Oct 16;10(10):e1003887. Epub 2014 Oct 16.

Medical Research Council, Cognition and Brain Sciences Unit, Cambridge, United Kingdom; Department of Psychology, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1371/journal.pcbi.1003887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199497PMC
October 2014

The epidemiology of a specialist neurorehabilitation clinic: implications for clinical practice and regional service development.

Brain Inj 2014 5;28(12):1559-67. Epub 2014 Aug 5.

Division of Neurosurgery, University of Cambridge , Cambridge , UK and.

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http://www.tandfonline.com/doi/full/10.3109/02699052.2014.93
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http://dx.doi.org/10.3109/02699052.2014.939717DOI Listing
June 2015

Public views on participating in newborn screening using genome sequencing.

Eur J Hum Genet 2014 Nov 19;22(11):1248-54. Epub 2014 Feb 19.

1] Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada [2] Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200434PMC
November 2014

Dissociable endogenous and exogenous attention in disorders of consciousness.

Neuroimage Clin 2013 16;3:450-61. Epub 2013 Oct 16.

Division of Neurosurgery, University of Cambridge, Box 167, Level 4, A Block, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK ; Medical Research Council, Cognition and Brain Sciences Unit, 15 Chaucer Road, Cambridge CB2 7EF, UK.

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http://dx.doi.org/10.1016/j.nicl.2013.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830059PMC
November 2013

Elements of morphology: general terms for congenital anomalies.

Am J Med Genet A 2013 Nov 3;161A(11):2726-33. Epub 2013 Oct 3.

Departments of Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.36249
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http://dx.doi.org/10.1002/ajmg.a.36249DOI Listing
November 2013

Primary care role in expanded newborn screening: After the heel prick test.

Can Fam Physician 2013 Aug;59(8):861-8

Department of Health Policy, Management and Evaluation, University of Toronto, 155 College St, 4th Floor, Toronto, ON M5T 3M6, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743702PMC
August 2013

Service use following attendance at an emergency department with an head injury: a 6-month survey.

Emerg Med J 2014 Sep 19;31(9):724-9. Epub 2013 Jun 19.

Division of Academic Neurosurgery, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1136/emermed-2013-202377DOI Listing
September 2014

Elements of morphology: standard terminology for the external genitalia.

Am J Med Genet A 2013 Jun 6;161A(6):1238-63. Epub 2013 May 6.

Department of Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440541PMC
June 2013

Traumatic brain injury in adults.

Pract Neurol 2013 Aug 13;13(4):228-35. Epub 2013 Mar 13.

Division of Neurosurgery, Department of Clinical Neurosciences, Addenbrooke's Hospital and University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1136/practneurol-2012-000268DOI Listing
August 2013

Noonan syndrome.

Lancet 2013 Jan 10;381(9863):333-42. Epub 2013 Jan 10.

Department of Cardiology and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01406736126102
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http://dx.doi.org/10.1016/S0140-6736(12)61023-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267483PMC
January 2013

Special Section. Syndrome-specific growth charts.

Am J Med Genet A 2012 Nov 4;158A(11):2645-6. Epub 2012 Oct 4.

Department of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35704
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http://dx.doi.org/10.1002/ajmg.a.35704DOI Listing
November 2012

Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

Vasc Med 2012 Oct 3;17(5):326-9. Epub 2012 Sep 3.

Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1177/1358863X12453973DOI Listing
October 2012

Efficiency of hospital reporting systems in detecting head injury admissions.

Br J Neurosurg 2012 Oct 18;26(5):730-5. Epub 2012 Jun 18.

Academic Neurosurgery Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.3109/02688697.2012.693647DOI Listing
October 2012

Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.

Am J Med Genet A 2012 Jun 14;158A(6):1452-4. Epub 2012 May 14.

Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35354
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http://dx.doi.org/10.1002/ajmg.a.35354DOI Listing
June 2012

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree.

Am J Med Genet A 2012 Jun 11;158A(6):1262-8. Epub 2012 May 11.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35286
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http://dx.doi.org/10.1002/ajmg.a.35286DOI Listing
June 2012

The face signature of fibrodysplasia ossificans progressiva.

Am J Med Genet A 2012 Jun 11;158A(6):1368-80. Epub 2012 May 11.

Molecular Medicine Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.35346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356438PMC
June 2012

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Am J Med Genet A 2012 May 21;158A(5):1020-8. Epub 2012 Mar 21.

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35285DOI Listing
May 2012

Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions.

Hum Mutat 2012 May 13;33(5):781-6. Epub 2012 Apr 13.

1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

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http://doi.wiley.com/10.1002/humu.22053
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http://dx.doi.org/10.1002/humu.22053DOI Listing
May 2012

Citizens' values regarding research with stored samples from newborn screening in Canada.

Pediatrics 2012 Feb 16;129(2):239-47. Epub 2012 Jan 16.

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1542/peds.2011-2572DOI Listing
February 2012

Assessing residual reasoning ability in overtly non-communicative patients using fMRI.

Neuroimage Clin 2012 30;2:174-83. Epub 2012 Nov 30.

The Brain and Mind Institute, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.nicl.2012.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777757PMC
November 2013

GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians.

Fam Pract 2011 Dec 10;28(6):615-23. Epub 2011 Jul 10.

Ray D. Wolfe Department of Family Medicine, Mount Sinai Hospital, Toronto, Canada.

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https://academic.oup.com/fampra/article-lookup/doi/10.1093/f
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http://dx.doi.org/10.1093/fampra/cmr040DOI Listing
December 2011

Rett syndrome: a study of the face.

Am J Med Genet A 2011 Jul 27;155A(7):1563-7. Epub 2011 May 27.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.34027
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http://dx.doi.org/10.1002/ajmg.a.34027DOI Listing
July 2011

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Am J Med Genet A 2011 Jun 5;155A(6):1217-24. Epub 2011 May 5.

Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33987DOI Listing
June 2011

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Pediatrics 2010 Oct 27;126(4):746-59. Epub 2010 Sep 27.

Department of Pediatrics, Munger Pavilion, Room 123, New York Medical College, Valhalla, NY 10595, USA.

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http://dx.doi.org/10.1542/peds.2009-3207DOI Listing
October 2010

The primary care physician role in cancer genetics: a qualitative study of patient experience.

Fam Pract 2010 Oct 9;27(5):563-9. Epub 2010 Jun 9.

Department of Health Policy, Management and Evaluation, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1093/fampra/cmq035DOI Listing
October 2010

Systematic review: family history in risk assessment for common diseases.

Ann Intern Med 2009 Dec;151(12):878-85

University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.7326/0003-4819-151-12-200912150-00177DOI Listing
December 2009

Understanding sickle cell carrier status identified through newborn screening: a qualitative study.

Eur J Hum Genet 2010 Mar 7;18(3):303-8. Epub 2009 Oct 7.

Faculty of Medicine, Department of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2009.173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987218PMC
March 2010

Informing parents about expanded newborn screening: influences on provider involvement.

Pediatrics 2009 Sep 10;124(3):950-8. Epub 2009 Aug 10.

Department of Health Policy, Management, and Evaluation, Mount Sinai Hospital, University of Toronto, Ontario, Canada.

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http://pediatrics.aappublications.org/content/pediatrics/124
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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2008-3148DOI Listing
September 2009

The current state of cancer family history collection tools in primary care: a systematic review.

Genet Med 2009 Jul;11(7):495-506

Division of Primary Care, University of Nottingham, Graduate Medical School, Derby City General Hospital, Nottingham, United Kingdom DE22 3DT.

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http://dx.doi.org/10.1097/GIM.0b013e3181a7e8e0DOI Listing
July 2009

Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation.

Clin Dysmorphol 2009 Apr;18(2):103-6

Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1097/MCD.0b013e328325ee66DOI Listing
April 2009

Elements of morphology: introduction.

Am J Med Genet A 2009 Jan;149A(1):2-5

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774524PMC
January 2009

Elements of morphology: standard terminology for the head and face.

Am J Med Genet A 2009 Jan;149A(1):6-28

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778021PMC
January 2009

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.

Am J Med Genet A 2008 May;146A(9):1218-20

Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.32273DOI Listing
May 2008

Noonan syndrome.

Am J Med Genet C Semin Med Genet 2007 Aug;145C(3):274-9

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.c.30138DOI Listing
August 2007

Introduction to Judith Hall Festschrift.

Am J Med Genet A 2006 Jan;140(2):111-3

Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31038DOI Listing
January 2006

Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37.

Am J Med Genet A 2005 Apr;134(3):299-304

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.30502DOI Listing
April 2005