Rare Disease Publications

January 1, 2020 | Human Mutation
Carvalho Lab

Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome

Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe S Mar, Melanie A Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A Lee, Julie R Jones, Michael J Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, Patricia A Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Claudia MB Carvalho, Grace M Hobson, James R Lupski

December 31, 2019 | Genome Medicine
Carvalho Lab

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R Beck, Hadia Hijazi, Christopher M Grochowski, Shen Gu, Pavel Seeman, Karen J Woodward, Claudia Carvalho, Grace M Hobson, James R Lupski

December 30, 2019 | Genome Medicine
Carvalho Lab

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying …

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

December 29, 2019 | Genome Medicine
Carvalho Lab

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Claudia MB Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W Belmont, Chad A Shaw, Sau Wai Cheung, Neil A Hanchard, V Reid Sutton, Patricia I Bader, James R Lupski

December 19, 2019 | BMC Molecular and Cell Biology
Dudley Lab

Data-driven multiscale modeling reveals the role of metabolic coupling for the spatio-temporal growth dynamics of yeast colonies

Jukka Intosalmi, Adrian C Scott, Michelle Hays, Nicholas Flann, Olli Yli-Harja, Harri Lähdesmäki, Aimée M Dudley, Alexander Skupin

December 1, 2019 | Clinical Epigenetics
Carvalho Lab

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J Hopkin, Aaron Hamvas, Jennifer A Wambach, Marwan Shinawi, Gladys Zapata, Claudia Carvalho, Qian Liu, Justyna A Karolak, James R Lupski, Neil A Hanchard, Paweł Stankiewicz

November 1, 2019 | International Journal of Systematic and Evolutionary Microbiology
Carvalho Lab

Sporobolomyces agrorum sp. nov. and Sporobolomyces sucorum sp. nov., two novel basidiomycetous yeast species isolated from grape and apple must in Italy

Marilinda Lorenzini, Giacomo Zapparoli, Michela Azzolini, Cláudia Carvalho, José Paulo Sampaio

October 1, 2019 | Biological Psychiatry
Carvalho Lab

Targeted treatment of individuals with psychosis carrying a copy number variant containing a genomic triplication of the glycine decarboxylase gene

J Alexander Bodkin, Michael J Coleman, Laura J Godfrey, Claudia MB Carvalho, Charity J Morgan, Raymond F Suckow, Thea Anderson, Dost Öngür, Marc J Kaufman, Kathryn E Lewandowski, Arthur J Siegel, Elliot Waldstreicher, Christopher M Grochowski, Daniel C Javitt, Dan Rujescu, Scott Hebbring, Richard Weinshilboum, Stephanie Burgos Rodriguez, Colette Kirchhoff, Timothy Visscher, Alexander Vuckovic, Allison Fialkowski, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Donald C Goff, James I Hudson, James R Lupski, Joseph T Coyle, Uwe Rudolph, Deborah L Levy

July 1, 2019 | G3: Genes, Genomes, Genetics
Dudley Lab

Computational Inference Software for Tetrad Assembly from Randomly Arrayed Yeast Colonies

Nikita A Sakhanenko, Gareth A Cromie, Aimée M Dudley, David J Galas

May 15, 2019 | PLOS Genetics
Dudley Lab

Selection of Candida albicans trisomy during oropharyngeal infection results in a commensal-like phenotype

Anja Forche, Norma V Solis, Marc Swidergall, Robert Thomas, Alison Guyer, Annette Beach, Gareth A Cromie, Giang T Le, Emily Lowell, Norman Pavelka, Judith Berman, Aimeé M Dudley, Anna Selmecki, Scott G Filler