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December 30, 2021 | American Journal of Medical Genetics Part A
Carvalho Lab

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

Chaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, Christopher M Grochowski, Janson White, Zeynep C Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Anna Lindstrand, James R Lupski, V Reid Sutton, Claudia MB Carvalho

December 29, 2021 | American Journal of Medical Genetics Part A
Carvalho Lab

Craniofacial phenotypes associated with Robinow syndrome

Christopher J Conlon, Amjed Abu‐Ghname, Anjali C Raghuram, Matthew J Davis, Diana E Guillen, V Reid Sutton, Claudia MB Carvalho, Renata S Maricevich

October 7, 2021 | The American Journal of Human Genetics
Carvalho Lab

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

Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Jawid M Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G Calame, Akif Ayaz, Tulay Tos, Gozde Yesil, Hatip Aydin, Bilgen Geckinli, Nursel Elcioglu, Sukru Candan, Ozlem Sezer, Haktan Bagis Erdem, Davut Gul, Emine Demiral, Muhsin Elmas, Osman Yesilbas, Betul Kilic, Serdal Gungor, Ahmet C Ceylan, Sevcan Bozdogan, Ozge Ozalp, Salih Cicek, Huseyin Aslan, Sinem Yalcintepe, Vehap Topcu, Yavuz Bayram, Christopher M Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Dana Marafi, Zeynep Coban Akdemir, Ender Karaca, Claudia MB Carvalho, Richard A Gibbs, Jennifer E Posey, James R Lupski, Davut Pehlivan

October 1, 2021 | Annals of Neurology
Carvalho Lab

Lessons Learned from Studying the Genomics of a Large Recessive Neurodevelopmental Disorder Cohort

Davut Pehlivan, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Daniel G Calame, Gulsen Akay, Haowei Du, Christopher M Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini Jhangiani, Dana Marafi, Zeynep Coban Akdemir, Claudia Carvalho, Richard A Gibbs, James R Lupski, Jennifer E Posey

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