A. Dawson

发表

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

C. Greenberg, A. Chudley, B. Chodirker, 2002, Clinical genetics.

A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

N. Niikawa, N. Matsumoto, N. Okamoto, 2004, Journal of Human Genetics.

CCMG Guidelines for Genomic Microarray Testing

D. Pinto, L. Feuk, S. Scherer, 2010 .

Congenital Indifference to Pain and Deletion of Chromosome 10q—: New Association

Charuta N. Joshi, A. Dawson, C. Prasad, 2006, Journal of child neurology.

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update.

A. Chudley, A. Dawson, H. Rothenmund, 1997, American journal of medical genetics.

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

T. Bech-Hansen, H. McDermid, A. Chudley, 1996, Journal of medical genetics.

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

J. McGowan-Jordan, J. Lavoie, A. Dawson, 2011, Clinical genetics.

Ataxia-Telangiectasia: Atypical Presentation and Toxicity of Cancer Treatment

M. D. Del Bigio, R. Gatti, C. Greenberg, 2009, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Prenatal cytogenetic assessment and inv(2)(p11.2q13)

Raouf Fetni, H. Bruyèrè, J. McGowan-Jordan, 2006, Prenatal diagnosis.

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Jing Liu, T. Sahoo, M. Zenker, 2020, Clinical dysmorphology.

De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.

C. Prasad, A. Prasad, A. Dawson, 2001, Clinical Dysmorphology.

Canadian College of Medical Geneticists guidelines for the indications, analysis, and reporting of cancer specimens.

J. McGowan-Jordan, J. Lavoie, A. Dawson, 2011, Current oncology.

Chromosome Microarray and Undiagnosed Seizures in a Pediatric Patient

J. N. Hartley, M. Strecker, A. Dawson, 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Inversion and deletion of 16q22 defined by array CGH, FISH, and RT-PCR in a patient with AML.

R. Vallente, S. Mai, S. Gunn, 2011, Cancer genetics.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

John Hutson, Alicia Oshlack, Tiong Yang Tan, 2016, Genome Biology.

Proximal interstitial 6q deletion: a recognizable syndrome.

A. Chudley, A. Dawson, D. Riordan, 1997, American journal of medical genetics.

Paternal origin of a small, class I inv dup(15).

P. Bridge, A. Dawson, H. Rothenmund, 2002, American journal of medical genetics.

Array comparative genomic hybridization and cytogenetic analysis in pediatric acute leukemias.

R. Vallente, S. Mai, R. Yanofsky, 2011, Current oncology.

Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell–Silver syndrome?

A. Chudley, Chumei Li, B. Chodirker, 2004, Clinical dysmorphology.

Distal Trisomy 10 p and 4 q Monosomy : Associated with Marfanoid Features , Syndromic Aortic Root Dilatation and Intellectual Disability

P. Shah, A. Dawson, K. Hovanes, 2016 .

Vertical transmission of the Ohdo blepharophimosis syndrome.

A. Chudley, A. Dawson, A. Mhanni, 1998, American journal of medical genetics.

Transmission of the FRAXA haplotype from three nonpenetrant brothers to their affected grandsons: an update with AGG interspersion analysis.

A. Chudley, N. Carson, A. Dawson, 1998, American journal of medical genetics.

Functional mosaic trisomy of 1q12 1q21 resulting from X‐autosome insertion translocation with random inactivation

A. Dawson, D. Riordan, A. Vust, 1998, Clinical Genetics.

Prenatal diagnosis of ring chromosome 6

S. Marles, S. Menticoglou, C. Harman, 1995, Prenatal diagnosis.

Unusual dicentric chromosome 22 associated with a 22q13 deletion

H. McDermid, V. D. Der Kaloustian, B. Chodirker, 2006, American journal of medical genetics. Part A.

Understanding the impact of 1q21.1 copy number variant

P. Pavlidis, E. Strong, M. O’Driscoll, 2011, Orphanet journal of rare diseases.

Interstitial 4p deletion in a child with an Angelman syndrome‐like phenotype

A. Chudley, N. Carson, A. Innes, 1999, Clinical genetics.

Interstitial deletion of chromosome 2p16.2p21

A. Dawson, D. Riordan, C. Prasad, 2003, Clinical dysmorphology.

A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity

T. Dörk, R. Saunders-Pullman, R. Gatti, 2014, Molecular Genetics & Genomic Medicine.

Ataxia‐telangiectasia with female fertility

R. Gatti, S. Marles, A. Dawson, 2015, American journal of medical genetics. Part A.

Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots.

A. Chudley, B. Chodirker, A. Dawson, 1995, Biochemical and molecular medicine.

Mosaic trisomy of a small r(1) with an abnormal phenotype.

A. Chudley, A. Dawson, D. Riordan, 2001, American journal of medical genetics.

A unique patient with an Ullrich–Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q

A. Dawson, D. Riordan, R. Casey, 2004, American Journal of Medical Genetics. Part A.

Low MSAFP levels and Williams syndrome.

C. Greenberg, A. Chudley, J. Evans, 1997, American journal of medical genetics.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

J. Gécz, A. Sinclair, C. Kimber, 2016, Genome Biology.