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September 30, 2021 | The American Journal of Human Genetics
Carvalho Lab

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Osman Yesilbas, Betul Kilic, Serdal Gungor, Ahmet C Ceylan, Sevcan Bozdogan

August 26, 2021 | Frontiers in Genetics
Carvalho Lab

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

Christopher M Grochowski, Ana CV Krepischi, Jesper Eisfeldt, Haowei Du, Debora R Bertola, Danyllo Oliveira, Silvia S Costa, James R Lupski, Anna Lindstrand, Claudia MB Carvalho

November 1, 2020 | American Journal of Medical Genetics Part A
Carvalho Lab

Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form

Brian J Shayota, Chaofan Zhang, Roman J Shypailo, Juliana F Mazzeu, Claudia MB Carvalho, V Reid Sutton

October 2, 2020 | Expert Review of Molecular Diagnostics
Carvalho Lab

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

James R Lupski, Pengfei Liu, Pawel Stankiewicz, Claudia MB Carvalho, Jennifer E Posey

October 1, 2020 | Hum Mutat.
Carvalho Lab

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman, Sau W Cheung, Ana C V Krepischi, Carla Rosenberg, James R Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth S Lundberg, Daniel Nilsson, Cláudia M B Carvalho, Anna Lindstrand

September 16, 2020 | F1000Research
Carvalho Lab

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

Medhat Mahmoud, Alejandro Rafael Gener, Michael M Khayat, Adam C English, Advait Balaji, Anbo Zhou, Andreas Hehn, Arkarachai Fungtammasan, Brianna Sierra Chrisman, Chen-Shan Chin, Chiao-Feng Lin, Chun-Hsuan Lo, Chunxiao Liao, Claudia MB Carvalho, Colin Diesh, David E Symer, Divya Kalra, Dreycey Albin, Elbay Aliyev, Eric T Dawson, Eric Venner, Fernanda Foertter, Gigon Bae, Haowei Du, Joyjit Daw, Junzhou Wang, Keiko Akagi, Lon Phan, Michael Jochum, Mohammadamin Edrisi, Nirav N Shah, Qi Wang, Robert Fullem, Rong Zheng, Sara E Kalla, Shakuntala Mitra, Todd J Treangen, Vaidhyanathan Mahaganapathy, Venkat Sai Malladi, Vipin K Menon, Yilei Fu, Yongze Yin, Yuanqing Feng, Tim Hefferon, Fritz J Sedlazeck, Ben Busby

May 1, 2020 | Biological Psychiatry
Carvalho Lab

Partial Pharmacological “Rescue” and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme …

Deborah Levy, Charity Morgan, J Alexander Bodkin, Michael Coleman, Laura Godfrey, Claudia Carvalho, Christopher Grochowski, Marc Kaufman, J Eric Jensen, TCW Julia, Kristen Brennand, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Donald Goff, James Lupski, Joseph Coyle, Uwe Rudolph

April 28, 2020 | bioRxiv
Carvalho Lab

De novo mutation and identity-by-descent drive disease haplotypes, biallelic traits and multilocus pathogenic variation

Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Shalini N Jhangiani, Donna M Muzny, Richard A Lewis, Baylor Hopkins Center for Mendelian Genomics, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A Gibbs, V Reid Sutton, Nara Sobreira, Claudia MB Carvalho, Chad A Shaw, Jennifer E Posey, David Valle, James R Lupski

January 1, 2020 | Molecular Genetics & Genomic Medicine
Carvalho Lab

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin‐Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia MB Carvalho, Jennifer E Posey, Guixing Qiu, Deciphering Disorders Involving Scoliosis and Comorbidities (DISCO) study, James R Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu

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