J. Buchan

发表

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Tam P. Sneddon, Kevin S. Smith, J. Korlach, 2017, Genetics in Medicine.

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

E. Eichler, M. Bamshad, J. Buchan, 2022, medRxiv.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Birgit Funke, Eden Haverfield, Ana Morales, 2018, Genetics in Medicine.

Canine MAS1: monoallelic expression is suggestive of an imprinted gene

J. Buchan, C. M. Nolan, J. Callanan, 2018, Animal genetics.

Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?

J. Buchan, M. Dobbs, N. Miller, 2014, Clinical orthopaedics and related research.

Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model

J. Buchan, 2014 .

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Carlos Cruchaga, J. Buchan, J. Morcuende, 2014, Human molecular genetics.

Rare variants in FBN 1 and FBN 2 are associated with severe adolescent idiopathic scoliosis

Carlos Cruchaga, J. Buchan, J. Morcuende, 2014 .

Adaptation and validation of the ACMG / AMP variant classification framework for MYH 7-associated inherited cardiomyopathies

Birgit Funke, Eden Haverfield, Ana Morales, 2018 .

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

J. Buchan, A. Brice, T. Bird, 2009, Neurology.

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, 2020, npj Genomic Medicine.

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development

J. Buchan, J. Herzenberg, M. Dobbs, 2012, European Journal of Human Genetics.

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.

J. Buchan, M. Dobbs, C. Gurnett, 2011, The Journal of bone and joint surgery. American volume.

A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.

J. Buchan, P. Bayrak-Toydemir, B. Funke, 2022, The Journal of molecular diagnostics : JMD.

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

J. Buchan, M. Dobbs, C. Gurnett, 2010, American journal of human genetics.

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

J. Lupski, J. Buchan, G. Pazour, 2022, Kidney international.

Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect.

J. Buchan, L. Kruse, M. Dobbs, 2012, The Journal of bone and joint surgery. American volume.

Kinesin family member 6 (kif6) is necessary for spine development in zebrafish

J. Buchan, M. Goldsmith, J. Gitlin, 2014, Developmental dynamics : an official publication of the American Association of Anatomists.

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.

J. Buchan, M. Goldsmith, P. Luther, 2013, Human molecular genetics.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.

Rapid Genome Sequencing in the Critically Ill.

E. Ashley, J. Buchan, R. Joshi, 2019, Clinical chemistry.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

J. Buchan, D. Lacombe, M. Parker, 2023, American journal of human genetics.

Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests

V. Jobanputra, C. Marshall, H. Rehm, 2022, medRxiv.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.