J. Allanson

发表

R. Hennekam, P. Hammond, T. Hutton, 2004, American journal of medical genetics. Part A.

Handbook of Normal Physical Measurements

J. Allanson, Judith G Hall, U. Froster-Iskenius, 1989 .

R. Hennekam, L. Biesecker, J. Allanson, 2009, American journal of medical genetics. Part A.

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions

Leslie G Biesecker, John C Carey, R. Hennekam, 2012, Human mutation.

Elements of morphology: Standard terminology for the external genitalia

J. Opitz, R. Hennekam, L. Biesecker, 2013, American journal of medical genetics. Part A.

Special section. Syndrome‐specific growth charts

J. Allanson, K. Gripp, Judith G Hall, 2012, American journal of medical genetics. Part A.

Handbook of Physical Measurements

Judith G. Hall, Karen W. Gripp, J. Allanson, 2006 .

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

P. Raina, P. Santaguida, J. Allanson, 2009, Genetics in Medicine.

Collection and use of cancer family history in primary care.

P. Raina, P. Santaguida, J. Allanson, 2007, Evidence report/technology assessment.

Systematic Review: Family History in Risk Assessment for Common Diseases

Parminder Raina, Julian Little, Nadeem Qureshi, 2009, Annals of Internal Medicine.

Consciousness-specific dynamic interactions of brain integration and functional diversity

Guy B. Williams, A. Owen, J. Pickard, 2019, Nature Communications.

Discriminating power of localized three-dimensional facial morphology.

A. Karmiloff-Smith, B. Buxton, P. Scambler, 2005, American journal of human genetics.

Traumatic brain injury: integrated approaches to improve prevention, clinical care, and research

Ruben G. L. Real, M. Pirinen, V. Feigin, 2017, The Lancet Neurology.

Noonan syndrome.

J. Allanson, J. E. Allanson, Amy E. Roberts, 1987, Journal of medical genetics.

Management of Genetic Syndromes: Cassidy/Management

J. Allanson, S. Cassidy, 2010 .

Fractal dimension of cortical functional connectivity networks & severity of disorders of consciousness

Guy B. Williams, Michael M. Craig, Thomas F. Varley, 2020, PloS one.

Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes.

Richard E. Ward, Judith Allanson, R. Ward, 2000 .

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

The face of Smith-Magenis syndrome: a subjective and objective study

J. Allanson, F. Greenberg, Ann C M Smith, 1999, Journal of medical genetics.

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

C. T. Morgan, A. Munnich, S. Antonarakis, 2003, Human molecular genetics.

Distributed harmonic patterns of structure-function dependence orchestrate human consciousness

Michael M. Craig, M. Kringelbach, P. Mediano, 2020, bioRxiv.

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

J. Allanson, B. Gelb, A. Roberts, 2010, Pediatrics.

Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

J. Allanson, H. Cavé, K. Gripp, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Bedside EEG predicts longitudinal behavioural changes in disorders of consciousness

Corinne A. Bareham, J. Pickard, S. Chennu, 2020, NeuroImage: Clinical.

Longitudinal Bedside Assessments of Brain Networks in Disorders of Consciousness: Case Reports From the Field

Corinne A. Bareham, J. Pickard, S. Chennu, 2018, Front. Neurol..

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

D. Horn, S. Mundlos, J. Allanson, 2007, Journal of Medical Genetics.

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

A. Owen, J. Pickard, A. Hampshire, 2012, NeuroImage: Clinical.

Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study

W. Meschino, J. Allanson, J. Bottorff, 2013, BMJ Open.

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

J. Allanson, F. Miller, J. Carroll, 2010, Family practice.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

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

J. Allanson, S. Ekvall, G. Annéren, 2011, American journal of medical genetics. Part A.

Noonan syndrome

J. Allanson, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Rubinstein-Taybi syndrome: the changing face.

J. Allanson, 2005, American journal of medical genetics. Supplement.

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

P. Stankiewicz, Ankita Patel, S. Kang, 2014, European Journal of Human Genetics.

Classical lissencephaly syndromes: does the face reflect the brain?

D. Ledbetter, J. Allanson, W. Dobyns, 1998, Journal of medical genetics.

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

J. Allanson, Deanna Telner, F. Miller, 2019, Front. Genet..

fMRI for vegetative and minimally conscious states

D. Wade, J. Kitzinger, J. Pickard, 2012, BMJ : British Medical Journal.

THE ROLE OF REDUCED EAR SIZE IN THE PRENATAL DETECTION OF CHROMOSOMAL ABNORMALITIES

J. Allanson, Takashi Shimizu, J. Allanson, 1997, Prenatal diagnosis.

Measuring women's preferences for breast cancer treatments and BRCA1/BRCA2 testing

J. Allanson, L. Surh, S. Verma, 2004, Quality of Life Research.

NOONAN SYNDROME

J. Allanson, A. Roberts, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

The face of Noonan syndrome: Does phenotype predict genotype

D. Horn, J. Allanson, D. Wieczorek, 2010, American journal of medical genetics. Part A.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

J. Allanson, M. Tartaglia, B. Kerr, 2009, European Journal of Human Genetics.

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

J. Allanson, C. Armour, 2007, Journal of Medical Genetics.

Supporting genetics in primary care: investigating how theory can inform professional education

J. Grimshaw, W. Meschino, J. Allanson, 2016, European Journal of Human Genetics.

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

J. Grimshaw, W. Meschino, J. Allanson, 2011, Family practice.

Spectrum of outcomes following traumatic brain injury—relationship between functional impairment and health-related quality of life

D. Menon, J. Allanson, A. Helmy, 2017, Acta Neurochirurgica.

Pattern of injuries and management of adolescent trauma in a combined adult and paediatric major trauma centre in United Kingdom

J. Allanson, H. Mee, F. Anwar, 2020 .

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

J. Pickard, J. Allanson, P. Hutchinson, 2014, Brain injury.

Reduced emergent character of neural dynamics in patients with a disrupted connectome

Michael M. Craig, Fernando E. Rosas, P. Mediano, 2022, bioRxiv.

The Clinical Phenotype of Noonan Syndrome

J. Allanson, 2009 .

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

J. Allanson, C. Dennie, T. Brandys, 2012, Vascular Medicine.

Aortic-root dilatation in Noonan's syndrome.

J. Allanson, A. Lin, K. Garver, 1987, The New England journal of medicine.

The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach

Alcino J. Silva, B. Korf, C. Lázaro, 2015, American journal of medical genetics. Part A.

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

J. Allanson, P. Harper, M. Upadhyaya, 1991, Journal of medical genetics.

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

E. Zackai, J. Allanson, L. Medne, 2008, American journal of medical genetics. Part A.

Reflex testing for Lynch syndrome: If we build it, will they come? Lessons learned from the uptake of clinical genetics services by individuals with newly diagnosed colorectal cancer (CRC)

J. Allanson, D. Jonker, M. Mackey, 2013, Familial Cancer.

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

N. Pimlott, P. Pluye, R. Grad, 2016, The Journal of continuing education in the health professions.

Efficiency of hospital reporting systems in detecting head injury admissions

J. Pickard, J. Allanson, P. Hutchinson, 2012, British journal of neurosurgery.

Systematic Review: Family History in Risk Assessment for Common Diseases

P. Raina, P. Santaguida, J. Little, 2009, Annals of Internal Medicine.

What is the significance of attendance by the partner at genetic counselling for advanced maternal age?

J. Allanson, J. Allanson, M. Cappelli, 2003 .

Y chromosome--specific DNA sequences in Turner-syndrome mosaicism.

J. Allanson, B. Hecht, R. Gemmill, 1987, American journal of human genetics.

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

J. Allanson, K. Gripp, D. Lacombe, 2008, American journal of medical genetics. Part A.

Noonan phenotype associated with neurofibromatosis.

J. Opitz, J. Allanson, M. V. Van Allen, 1985, American journal of medical genetics.

Informing Parents About Expanded Newborn Screening: Influences on Provider Involvement

J. Little, J. Allanson, P. Chakraborty, 2009, Pediatrics.

Familial clefting syndrome with ectropion and dental anomaly — without limb anomalies

J. Allanson, Barbara C.McGillivray, 1985, Clinical Genetics.

Transverse myelitis as the first manifestation of systemic lupus erythematosus or lupus-like disease: good functional outcome and relevance of antiphospholipid antibodies.

J. Allanson, G. Hughes, D. D'cruz, 2004, The Journal of rheumatology.

Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

I. Glass, J. Allanson, K. Millen, 2012, American journal of medical genetics. Part A.

Prolonged disorders of consciousness: A response to a “critical evaluation of the new UK guidelines.”

D. Wade, J. Allanson, L. Turner-Stokes, 2022, Clinical rehabilitation.

Noonan syndrome.

J. Allanson, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

J. Opitz, J. Allanson, R. Pagon, 1987, American journal of medical genetics.

10 Beckwith-wiedemann Syndrome

R. Weksberg, J. Allanson, 2010 .

Genetics: hereditary hemochromatosis.

J. Grimshaw, W. Meschino, J. Allanson, 2009, Canadian family physician Medecin de famille canadien.

Bleeding diathesis in Noonan syndrome: a common association.

J. Opitz, J. Allanson, A. Zipursky, 1988, American journal of medical genetics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.

J. Allanson, T. Cole, A. Hunter, 1992, Journal of medical genetics.

Gorlin's Syndromes of the Head and Neck

I. Krantz, R. Hennekam, J. Allanson, 2010 .

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

Reflex testing for Lynch syndrome: If we build it, will they come? Lessons learned from the uptake of clinical genetics services by individuals with newly diagnosed colorectal cancer (CRC)

J. Allanson, D. Jonker, M. Mackey, 2013, Familial Cancer.

Time and natural history: the changing face.

J. Allanson, 1989, Journal of craniofacial genetics and developmental biology.

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

R. Hennekam, J. Allanson, D. Lacombe, 2002, American journal of medical genetics.

The First Noonan Syndrome Gene: PTPN11, Which Encodes the Protein Tyrosine Phosphatase SHP-2

J. Allanson, 2002, Pediatric Research.

Obstetric and Gynecologic Problems in Women With Chondrodystrophies

J. Allanson, J. Hall, 1986, Obstetrics and gynecology.

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

R. Hennekam, J. Allanson, M. Ireland, 1997, Journal of medical genetics.

Resting-state based prediction of task-related activation in patients with disorders of consciousness

Guy B. Williams, Michael M. Craig, J. Pickard, 2021, bioRxiv.

Dissociable endogenous and exogenous attention in disorders of consciousness☆

Adrian M. Owen, Martin M. Monti, Srivas Chennu, 2013, NeuroImage: Clinical.

A hierarchy of event-related potential markers of auditory processing in disorders of consciousness

A. Owen, J. Pickard, S. Chennu, 2016, NeuroImage: Clinical.

Dopaminergic brainstem disconnection is common to pharmacological and pathological consciousness perturbation

Guy B. Williams, Michael M. Craig, B. Sahakian, 2021, Proceedings of the National Academy of Sciences.

A Synergistic Workspace for Human Consciousness Revealed 1 by Integrated Information Decomposition 2 3

Guy B. Williams, Lorina Naci, Adrian M. Owen, 2020 .

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

Corinne A. Bareham, J. Pickard, S. Chennu, 2019, Brain communications.

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

B. Sahakian, J. Pickard, D. Menon, 2018, Brain injury.

Public Perceptions of the Benefits and Risks of Newborn Screening

Carolyn J. Barg, Y. Bombard, J. Little, 2015, Pediatrics.

Whole-brain modelling identifies distinct but convergent paths to unconsciousness in anaesthesia and disorders of consciousness

Michael M. Craig, A. Owen, P. Mediano, 2022, Communications Biology.

Paths to Oblivion: Common Neural Mechanisms of Anaesthesia and Disorders of Consciousness

Guy B. Williams, Michael M. Craig, Fernando E. Rosas, 2021, bioRxiv.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality

F. Hecht, J. Allanson, W. Austin, 1986, Clinical genetics.

Elements of morphology: Standard terminology for the head and face

H. Hoyme, J. Allanson, M. Muenke, 2009, American journal of medical genetics. Part A.

Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case‐control study

J. Allanson, C. Deal, L. Wolf, 2015, American journal of medical genetics. Part A.

Prenatal cocaine exposure and fetal vascular disruption.

H. Hoyme, K. Jones, L. Robinson, 1990, Pediatrics.

The cardiofaciocutaneous syndrome

J. Opitz, J. Allanson, G. Neri, 2006, Journal of Medical Genetics.

Noonan syndrome FIG 4 An adolescent with Noonan syndrome

J. Allanson, 2004 .

A patient with de-novo partial deletion of Xp (p11.4–pter) and partial duplication of 22q (q11.2–qter)

J. Allanson, M. Basik, J. McGowan-Jordan, 2008, Clinical dysmorphology.

Spectral Signatures of Reorganised Brain Networks in Disorders of Consciousness

Guy B. Williams, Adrian M. Owen, David K. Menon, 2014, PLoS Comput. Biol..

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

D. Dickson, J. Allanson, M. Hutton, 2014, neurogenetics.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Owen A. Ross, Dennis W. Dickson, A. Jon Stoessl, 2013, neurogenetics.

Clinical utility of cancer family history collection in primary care.

P. Raina, P. Santaguida, J. Little, 2009, Evidence report/technology assessment.

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

R. Cantor, K. Taylor, Xiuqing Guo, 2004, Journal of Medical Genetics.

Spondylocarpotarsal synostosis with epiphyseal dysplasia.

J. Allanson, L. Langer, C. Honeywell, 2002, American journal of medical genetics.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Andrea Superti-Furga, Sebastian Wachsmann-Hogiu, Judith Allanson, 2004, Nature Genetics.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

D. Ledbetter, C. Martin, J. Allanson, 2003, American journal of human genetics.

Genetics: type 2 diabetes.

W. Meschino, J. Allanson, J. Carroll, 2009, Canadian family physician Medecin de famille canadien.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

J. Allanson, A. C. Ma, K. Y. Chan, 2018, Scientific Reports.

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype

J. Allanson, J. McGowan-Jordan, L. Armstrong, 2003, American journal of medical genetics. Part A.

Genetics: Alzheimer disease.

W. Meschino, J. Allanson, J. Carroll, 2009, Canadian family physician Medecin de famille canadien.

Psychological and social predictors of decisions about genetic testing for breast cancer in high-risk women

Shailendra Verma, J. Allanson, Y. Korneluk, 2001 .

Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

F. Hecht, J. Allanson, B. Hecht, 1988, Journal of medical genetics.

Elements of morphology: General terms for congenital anomalies

J. Opitz, R. Hennekam, L. Biesecker, 2013, American journal of medical genetics. Part A.

A split hand-split foot (SHFM3) gene is located at 10q24-->25.

J. Allanson, M. Genuardi, G. Neri, 1996, American journal of medical genetics.

Follow-up study of patients with Wiedemann-Beckwith syndrome with emphasis on the change in facial appearance over time.

J. Allanson, A. Hunter, 1994, American journal of medical genetics.

Possible new autosomal recessive syndrome with unusual renal histopathological changes.

J. Allanson, P. Macleod, J. Pantzar, 1983, American journal of medical genetics.

Natural history of mosaic trisomy 14 syndrome.

V. P. Johnson, J. Allanson, A. Fujimoto, 1992, American journal of medical genetics.

Cytogenetic findings in 318 couples with repeated spontaneous abortion: a review of experience in British Columbia.

J. Allanson, D. Kalousek, B. J. Poland, 1984, American journal of medical genetics.

Child with deletion of 4q and duplication of 1q.

J. Allanson, T. Morgan, J. Wade, 1989, American journal of medical genetics.

Photographic documentation of syndrome diagnosis.

R. Stevenson, J. Allanson, R. Winter, 1997, American journal of medical genetics.

Severe Silver-Russell syndrome.

J. Allanson, M. Baraitser, D. Donnai, 1989, Journal of medical genetics.

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

J. Allanson, J. McGowan-Jordan, W. Al-Hertani, 2012, American journal of medical genetics. Part A.

Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

J. Allanson, A. Hunter, A. Mackenzie, 1992, American journal of medical genetics.

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

J. Little, J. Allanson, P. Chakraborty, 2010, European Journal of Human Genetics.

Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes.

R. Ward, J. Allanson, P. Jamison, 2000, American journal of medical genetics.

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

J. Little, J. Allanson, P. Chakraborty, 2013, Canadian family physician Medecin de famille canadien.

Anthropometric craniofacial pattern profiles in Down syndrome.

J E Allanson, L. Farkas, J. Allanson, 1993, American journal of medical genetics.

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

B. Fernandez, M. Hayden, W. Meschino, 2003, Clinical genetics.

Opposite effects on facial morphology due to gene dosage sensitivity

R. Hennekam, M. Tassabehji, P. Hammond, 2014, Human Genetics.

Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer

J. Allanson, Y. Korneluk, E. Tomiak, 2005, Clinical genetics.

Hereditary breast and ovarian cancers.

J. Grimshaw, W. Meschino, J. Allanson, 2008, Canadian family physician Medecin de famille canadien.

Traumatic brain injury in adults

J. Allanson, A. Helmy, A. Kolias, 2013, Practical Neurology.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

J. Allanson, A. C. Ma, K. Y. Chan, 2018, Scientific Reports.

Noonan syndrome: the changing phenotype.

Judith G. Hall, J. Opitz, J. Allanson, 1985, American journal of medical genetics.

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

Carolyn J. Barg, Y. Bombard, J. Little, 2016, Pediatrics.

J. Allanson, D. Weaver, L. Armstrong, 2005, American journal of medical genetics. Part A.

No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes

J. Allanson, G. Neri, M. I. Kavamura, 2008, Journal of Medical Genetics.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Marni J. Falk, Nathan R. Wilson, E. Zackai, 2014, Journal of Medical Genetics.

The face signature of fibrodysplasia ossificans progressiva

Peter Hammond, Judith Allanson, Michael Suttie, 2012, American journal of medical genetics. Part A.

Neurofibromatosis I: predicting the relation of gene structure to gene function.

J. Allanson, J. Hall, 1991, American journal of medical genetics.

Management of Genetic Syndromes: Cassidy/Management

J. Allanson, S. Cassidy, Judith E. Allanson, 2010 .

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

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

J. Allanson, J. McGowan-Jordan, B. Argiropoulos, 2012, American journal of medical genetics. Part A.

Citizens’ Values Regarding Research With Stored Samples From Newborn Screening in Canada

Y. Bombard, J. Little, J. Allanson, 2012, Pediatrics.

Prenatal diagnosis in congenital contractural arachnodactyly.

J. Allanson, M. Godfrey, S. Belleh, 1997, Genetic testing.

G syndrome: an unusual family.

J. Allanson, 1988, American journal of medical genetics.

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

R. Weksberg, J. Opitz, J. Allanson, 1995, Nature Genetics.

Abnormal chromosome complement resulting from a familial inversion of chromosome 2.

J. Allanson, S. Richter, D. Lockwood, 1989, Journal of medical genetics.

Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.

J. Allanson, A. Hunter, G. Mettler, 1992, American journal of medical genetics.

Delineation and Visualisation of Congenital Abnormality using 3D Facial Images

Peter Hammond, Michael A. Patton, Tim J. Hutton, 2001 .

Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.

J. Allanson, G. Graham, 1999, American journal of medical genetics.

Deletion mapping of the β-glucuronidase gene

J. Allanson, B. Hecht, R. Gemmill, 1988 .

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

J. Allanson, M. Carter, F. Jacob, 2009, Clinical dysmorphology.

Noonan syndrome

J. Allanson, B. Gelb, M. Tartaglia, 2013, The Lancet.

Germinal mosaicism in Apert syndrome

J. Allanson, 1986, Clinical genetics.

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

J. Allanson, 2016, American journal of medical genetics. Part A.

Maternal translocation (9;18) with two abnormal offspring each with different chromosome derivatives.

J. Allanson, C. Riske, M. Pearson, 1989, Journal of medical genetics.

Sotos syndrome: evolution of facial phenotype subjective and objective assessment.

J. Allanson, T. Cole, T. Cole, 1996, American journal of medical genetics.

Variation in monitoring and treatment policies for intracranial hypertension in traumatic brain injury: a survey in 66 neurotrauma centers participating in the CENTER-TBI study

M. Pirinen, V. Feigin, M. Majdan, 2017, Critical Care.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Brain death and postmortem organ donation: report of a questionnaire from the CENTER-TBI study

Ruben G. L. Real, M. Pirinen, V. Feigin, 2018, Critical Care.

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

J. Allanson, L. Racacho, D. Bulman, 2015, European Journal of Human Genetics.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Marni J. Falk, Gerard C. P. Schaafsma, R. Kumar, 2012, Human mutation.

Familial translocation t(9;16).

J. Allanson, D. Lockwood, C. Dowman, 1989, Journal of medical genetics.

Duplication 6p and deletion 9p.

J. Allanson, B. Hecht, C. Lytle, 1989, Journal of medical genetics.

Appendix A - Search Strategies Detailed

P. Raina, P. Santaguida, J. Little, 2009 .

Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segregation in first meiosis

F. Hecht, J. Allanson, D. Lockwood, 1989, Human Genetics.

A Synergistic Workspace for Human Consciousness Revealed by Integrated Information Decomposition

Guy B. Williams, Michael M. Craig, A. Owen, 2020, bioRxiv.

Preserved fractal character of structural brain networks is associated with covert consciousness after severe brain injury

Guy B. Williams, Michael M. Craig, J. Pickard, 2021, NeuroImage: Clinical.

Public views on participating in newborn screening using genome sequencing

Carolyn J. Barg, Y. Bombard, J. Little, 2014, European Journal of Human Genetics.

Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects. Clinical Teratology Committee, Canadian College of Medical Geneticists.

J. Allanson, E. Andermann, F. Fraser, 1993, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

Network dynamics scale with levels of awareness

Guy B. Williams, A. Owen, J. Pickard, 2021, NeuroImage.

Autosomal dominant dystonia-plus with cerebral calcifications

S. Melquist, R. Uitti, J. Allanson, 2006, Neurology.

Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.

J. Allanson, S. Richter, 1991, Journal of medical genetics.

Psychological and social determinants of women's decisions to undergo genetic counseling and testing for breast cancer

J. Allanson, L. Surh, S. Verma, 1999, Clinical genetics.

Nablus syndrome: Easy to diagnose yet difficult to solve

J. Allanson, K. Boycott, A. Lin, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype

J. Allanson, J. Hamid, Małgorzata J. M. Nowaczyk, 2012, American journal of medical genetics. Part A.

Transfection of proto oncogene c-jun into a mouse neuroblastoma cell line potentiates differentiation.

J. Allanson, S. Hunt, J. Morton, 1994, Gene therapy.

Nablus mask-like facial syndrome.

J. Allanson, 2001, American journal of medical genetics.

A second family with blepharo-naso-facial syndrome.

J. Allanson, 2002, Clinical Dysmorphology.

Genetics: Preimplantation genetic diagnosis.

W. Meschino, J. Allanson, J. Carroll, 2010, Canadian family physician Medecin de famille canadien.

Array CGH ends diagnostic odyssey for infant with features of Williams and Alagille syndrome

J. Allanson, L. Gardin, C. Honeywell, 2009, American journal of medical genetics. Part A.

Neuropathy in Navajo children

J. Allanson, S. Helgerson, R. Snyder, 1990, Neurology.

Variation in general supportive and preventive intensive care management of traumatic brain injury: a survey in 66 neurotrauma centers participating in the Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) study

M. Pirinen, V. Feigin, M. Majdan, 2018, Critical Care.

The Role of Women's Relationships With Their Partners in Their Adjustment Following Prenatal Genetic Testing1

J. Allanson, M. Cappelli, L. Humphreys, 2008 .

Face–brain asymmetry in autism spectrum disorders

P Hammond, J E Allanson, P. Hammond, 2008, Molecular Psychiatry.

Reply to "lymphoproliferative disorders in Sotos syndrome: observation in two cases".

J. Allanson, T. Cole, 1998, American journal of medical genetics.

The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it?

R. Hennekam, P. Hammond, M. Suttie, 2012 .

Characteristics of patients with persistent severe disability and medically unexplained neurological symptoms: a pilot study

D. Wade, J. Allanson, C. Bass, 2002, Journal of neurology, neurosurgery, and psychiatry.

Family history and improving health.

Parminder Raina, Julian Little, Brenda Wilson, 2009, Evidence report/technology assessment.

Objective techniques for craniofacial assessment: what are the choices?

J E Allanson, J. Allanson, Judith Allanson, 1997, American journal of medical genetics.

Health-care providers’ views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders

Y. Bombard, J. Little, J. Allanson, 2011, European Journal of Human Genetics.

Ultrasonographic Measurements of the Fetal Ear

J. Allanson, Takashi Shimizu, C. Nimrod, 1992, Obstetrics and gynecology.

Turner syndrome in a mother and daughter: r(X) and fertility

J. Allanson, A. Blumenthal, 1997, Clinical genetics.

Growth curves for height in Noonan syndrome

J E Allanson, J. Allanson, B. Keena, 1986, Clinical genetics.

Combined transient and peripheral defects in tetrahydrobiopterin synthesis.

J. Allanson, T. Tarby, E. Naylor, 1991, The Journal of pediatrics.

Pitfalls of genetic diagnosis in the adolescent: the changing face.

J. Allanson, 2002, Adolescent medicine.

Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure.

R. Hennekam, J. Allanson, 1997, American journal of medical genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

The cardiofaciocutaneous syndrome

J. Opitz, J. Allanson, A. Roberts, 2006, Journal of Medical Genetics.

Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.

E. Zackai, J. Allanson, N. Robin, 1994, Human molecular genetics.

Genetics: Codeine metabolism.

W. Meschino, J. Allanson, J. Carroll, 2009, Canadian family physician Medecin de famille canadien.

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

J. Pickard, J. Allanson, P. Hutchinson, 2013, Emergency Medicine Journal.

Robert J. Gorlin, M. Michael Cohen Jr, Raoul C.M. Hennekam (eds): Syndromes of the Head and Neck, 4th edition

J. Allanson, 2002, Human Genetics.

Rett syndrome: A study of the face

R. Hennekam, J. Allanson, U. Moog, 2011, American Journal of Medical Genetics. Part A.

Holt‐Oram syndrome: Is there a “face”?

J. Allanson, R. Newbury-Ecob, 2003, American journal of medical genetics. Part A.

Symposium introduction

J. Allanson, C. Schrander-Stumpel, 2004 .

The face of Noonan syndrome: Does phenotype predict genotype

D. Horn, J. Allanson, D. Wieczorek, 2010, American journal of medical genetics. Part A.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

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

J. Grimshaw, W. Meschino, J. Allanson, 2011, Family practice.

Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway.

J. Allanson, B. Kerr, G. Neri, 2007, European Journal of Medical Genetics.

Scholarship@Western Scholarship@Western

Guy B. Williams, A. Owen, J. Pickard, 2022 .

Elements of morphology: General terms for congenital anomalies

J. Opitz, R. Hennekam, L. Biesecker, 2013, American journal of medical genetics. Part A.

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

J. Allanson, P. Harper, M. Upadhyaya, 1991, Journal of medical genetics.

Study Protocol: Core Outcome Set for cranioplasty following stroke or TBI 'COAST Study'.

V. Pomeroy, J. Allanson, A. Helmy, 2022, JMIR research protocols.