J. McGowan-Jordan

发表

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Raymond Dalgleish, Reece K. Hart, D. Maglott, 2016, Human mutation.

Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.

M. Ghani, J. McGowan-Jordan, R. Roberts, 2019, The Journal of molecular diagnostics : JMD.

ISCN 2016: An International System for Human Cytogenomic Nomenclature (2016)

M. Schmid, M. Schmid, J. McGowan-Jordan, 2016 .

HLA-DRnegative, CD34negative Hypergranular Acute Myeloid Leukemia With Trisomy 6 and del(5)(q22q33): Case Report and Review of the Literature

D. Johnston, R. Padmore, J. McGowan-Jordan, 2011, Journal of pediatric hematology/oncology.

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

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

Front & Back Matter

J. McGowan-Jordan, Michael Schmid, Lisa G. Shaff, 2013, Fetal Diagnosis and Therapy.

Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation

A. MacKenzie, H. Heick, J. McGowan-Jordan, 1999, European Journal of Human Genetics.

Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

J. McGowan-Jordan, W. Al-Hertani, G. Graham, 2013, American journal of medical genetics. Part A.

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

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

Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome?

J. McGowan-Jordan, S. Venkateswaran, B. Bernhard, 2017, American journal of medical genetics. Part A.

Title: ISCN 2013: An International System For Human Cytogenetic Nomenclature (2013)Recommendations Of The International Standing Committee On Human ... 'The Normal Human Karyotype G- And R-bands'

L. Shaffer, M. Schmid, J. McGowan-Jordan, 2013 .

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.

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.

Hydrogen peroxide stimulates sodium-potassium pump activity in cultured pulmonary arterial endothelial cells.

J. McGowan-Jordan, J. Meharg, S. Rounds, 1993, The American journal of physiology.

ISCN 2013 : an international system for human cytogenetic nomenclature (2013) : recommendations of the International Standing Committee on Human Cytogenetic Nomenclature

Jean McGowan-Jordan, M. Schmid, L. Shaffer, 2005 .

Extracellular nucleotides stimulate leukocyte adherence to cultured pulmonary artery endothelial cells.

J. McGowan-Jordan, S. Rounds, D. Dawicki, 1995, The American journal of physiology.

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases

B. Mcgillivray, D. Chitayat, H. Bruyèrè, 2006, Prenatal diagnosis.

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.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion.

J. McGowan-Jordan, Melanie Lacaria, D. El Demellawy, 2017, Cancer genetics.

Update on molecular findings in rhabdomyosarcoma.

J. McGowan-Jordan, J. de Nanassy, D. El Demellawy, 2017, Pathology.

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.

Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.

M. Ghani, J. McGowan-Jordan, H. Daoud, 2019, The Journal of molecular diagnostics : JMD.

Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings

J. McGowan-Jordan, D. Dyment, R. Kapur, 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

The detection of chromosome anomalies by QF‐PCR and residual risks as compared to G‐banded analysis

J. McGowan-Jordan, M. Speevak, K. Chun, 2011, Prenatal diagnosis.

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.

Use of multicolor fluorescence in situ hybridization to detect deletions in clinical tissue sections

Paulo A. S. Nuin, R. J. Gooding, M. Tsao, 2018, Laboratory Investigation.

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.

Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

D. J. Driscoll, Kelly L. Adams, J. Rosenfeld, 2016, American journal of medical genetics. Part A.

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication

M. Basik, J. McGowan-Jordan, M. Carter, 2011, American journal of medical genetics. Part A.

MYC gene amplification in double minute chromosomes in an aggressive large B-cell lymphoma with leukemic presentation: a case report.

R. Padmore, J. McGowan-Jordan, M. Woźniak, 2009, Cancer genetics and cytogenetics.

Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making.

T. Stockley, P. Ray, T. Prior, 2002, American journal of medical genetics.

Re: International System for Human Cytogenetic or Cytogenomic Nomenclature (ISCN): Some Thoughts, by T. Liehr

J. McGowan-Jordan, R. Hastings, S. Moore, 2021, Cytogenetic and Genome Research.

Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion

J. McGowan-Jordan, C. Armour, M. Ramien, 2021, Pediatric dermatology.

Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, 2017, Genetics in Medicine.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Reece K. Hart, D. Maglott, S. Antonarakis, 2016, Human mutation.

ALU transposition induces familial hypertrophic cardiomyopathy

Lijia Huang, L. Benson, J. McGowan-Jordan, 2019, Molecular genetics & genomic medicine.