Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Authors: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

Source: HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)

Subject Terms: genotype-phenotype correlation, skeletal dysplasia, HPO terms, quantitative phenotyping cluster heatmap, molecular diagnosis, traits and OMIM clinical synopsis, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000555; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/111938d44884445f92d7831c96a453cf

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Authors: Dale L. Bodian, Thierry Vilboux, Natalie S. Hauser

Source: Allergy, Asthma & Clinical Immunology, Vol 15, Iss 1, Pp 1-4 (2019)

Subject Terms: Nextgen sequencing, Clinical sequencing, Hereditary angioedema, Angioedema, Plasminogen, PLG, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13223-019-0346-1; https://doaj.org/toc/1710-1492

Access URL: https://doaj.org/article/29d4a023fb1444d28f7ac8f81b3c7739