Clinical Utility and Practical Considerations of a Coronary Artery Disease Genetic Risk Score

door Liu, Robin, Cheng, Jiahui, Muzlera, Carlos, Robinson, John F., Ban, Matthew R., Hegele, Robert A.
Gepubliceerd in CJC Open (2019)

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

door Iacocca, Michael A., Wang, Jian, Dron, Jacqueline S., Robinson, John F., McIntyre, Adam D., Cao, Henian, Hegele, Robert A.
Gepubliceerd in J Lipid Res (2017)

Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young

door Berberich, Amanda J, Huot, Céline, Cao, Henian, McIntyre, Adam D, Robinson, John F, Wang, Jian, Hegele, Robert A
Gepubliceerd in J Clin Endocrinol Metab (2019)

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young

door Berberich, Amanda J., Mokashi, Arati, McIntyre, Adam D., Robinson, John F., Cao, Henian, Wang, Jian, Hegele, Robert A.
Gepubliceerd in Clin Genet (2019)

Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome

door Al-Attar, Salam A, Pollex, Rebecca L, Robinson, John F, Miskie, Brooke A, Walcarius, Rhonda, Rutt, Brian K, Hegele, Robert A
Gepubliceerd in 2006

Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

door Dron, Jacqueline S., Wang, Jian, McIntyre, Adam D., Iacocca, Michael A., Robinson, John F., Ban, Matthew R., Cao, Henian, Hegele, Robert A.
Gepubliceerd in BMC Med Genomics (2020)

Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging

door Al-Attar, Salam A, Pollex, Rebecca L, Robinson, John F, Miskie, Brooke A, Walcarius, Rhonda, Little, Cynthia Harper, Rutt, Brian K, Hegele, Robert A
Gepubliceerd in 2007

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

door Lahiry, Piya, Racacho, Lemuel, Wang, Jian, Robinson, John F, Gloor, Gregory B, Rupar, C Anthony, Siu, Victoria M, Bulman, Dennis E, Hegele, Robert A
Gepubliceerd in 2013

Targeted next generation sequencing as a tool for precision medicine

door Gulilat, Markus, Lamb, Tyler, Teft, Wendy A., Wang, Jian, Dron, Jacqueline S., Robinson, John F., Tirona, Rommel G., Hegele, Robert A., Kim, Richard B., Schwarz, Ute I.
Gepubliceerd in BMC Med Genomics (2019)

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

door Farhan, Sali M K, Wang, Jian, Robinson, John F, Lahiry, Piya, Siu, Victoria M, Prasad, Chitra, Kronick, Jonathan B, Ramsay, David A, Rupar, C Anthony, Hegele, Robert A
Gepubliceerd in 2014

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

door Johansen, Christopher T., Dubé, Joseph B., Loyzer, Melissa N., MacDonald, Austin, Carter, David E., McIntyre, Adam D., Cao, Henian, Wang, Jian, Robinson, John F., Hegele, Robert A.
Gepubliceerd in 2014

Targeted sequencing reveals expanded genetic diversity of human transfer RNAs

door Berg, Matthew D., Giguere, Daniel J., Dron, Jacqueline S., Lant, Jeremy T., Genereaux, Julie, Liao, Calwing, Wang, Jian, Robinson, John F., Gloor, Gregory B., Hegele, Robert A., O’Donoghue, Patrick, Brandl, Christopher J.
Gepubliceerd in RNA Biol (2019)

Genetic and epigenetic study of an Alzheimer’s disease family with monozygotic triplets

door Zhang, Ming, Dilliott, Allison A, Khallaf, Roaa, Robinson, John F, Hegele, Robert A, Comishen, Michael, Sato, Christine, Tosto, Giuseppe, Reitz, Christiane, Mayeux, Richard, George-Hyslop, Peter St, Freedman, Morris, Rogaeva, Ekaterina
Gepubliceerd in Brain (2019)

Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia

door Dron, Jacqueline S., Wang, Jian, McIntyre, Adam D., Cao, Henian, Robinson, John F., Duell, P. Barton, Manjoo, Priya, Feng, James, Movsesyan, Irina, Malloy, Mary J., Pullinger, Clive R., Kane, John P., Hegele, Robert A.
Gepubliceerd in J Lipid Res (2019)

Polygenic determinants in extremes of high-density lipoprotein cholesterol

door Dron, Jacqueline S., Wang, Jian, Low-Kam, Cécile, Khetarpal, Sumeet A., Robinson, John F., McIntyre, Adam D., Ban, Matthew R., Cao, Henian, Rhainds, David, Dubé, Marie-Pierre, Rader, Daniel J., Lettre, Guillaume, Tardif, Jean-Claude, Hegele, Robert A.
Gepubliceerd in J Lipid Res (2017)

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

door Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.
Gepubliceerd in 2009

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

door Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.
Gepubliceerd in 2009

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

door Farhan, Sali M K, Dilliott, Allison A, Ghani, Mahdi, Sato, Christine, Liang, Eric, Zhang, Ming, McIntyre, Adam D, Cao, Henian, Racacho, Lemuel, Robinson, John F, Strong, Michael J, Masellis, Mario, St George-Hyslop, Peter, Bulman, Dennis E, Rogaeva, Ekaterina, Hegele, Robert A
Gepubliceerd in NPJ Genom Med (2016)

Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation

door Lazarte, Julieta, Laksman, Zachary W, Wang, Jian, Robinson, John F, Dron, Jacqueline S, Leach, Emma, Liew, Janet, McIntyre, Adam D, Skanes, Allan C, Gula, Lorne J, Leong-Sit, Peter, Cao, Henian, Trost, Brett, Scherer, Stephen W, Hegele, Robert A, Roberts, Jason D
Gepubliceerd in Europace (2021)

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

door Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsattari, Seyed M, Rupar, C Anthony, Siu, Victoria M, Poulter, Michael O, Hegele, Robert A, Kramer, Jamie M
Gepubliceerd in Hum Mol Genet (2017)