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August 1, 2018 | International Journal of Systematic and Evolutionary Microbiology
Carvalho Lab

Zygotorulaspora chibaensis sp. nov. and Zygotorulaspora danielsina sp. nov., novel ascomycetous yeast species from tree bark and soil

Cláudia Carvalho, André Tomás, Diego Libkind, Yumi Imanishi, José Paulo Sampaio

August 1, 2018 | Human Mutation
Carvalho Lab

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Christopher M Grochowski, Shen Gu, Bo Yuan, Julia Tcw, Kristen J Brennand, Jonathan Sebat, Dheeraj Malhotra, Shane McCarthy, Uwe Rudolph, Anna Lindstrand, Zechen Chong, Deborah L Levy, James R Lupski, Claudia MB Carvalho

May 24, 2018 | The American Journal of Human Genetics
Carvalho Lab

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides, Zeynep H Coban-Akdemir, Richard A Gibbs, Shalini N Jhangiani, Donna M Muzny, Claudia MB Carvalho, Deborah A Schady, Mahim Jain, Jill A Rosenfeld, Lisa Emrick, Richard A Lewis, Brendan Lee, Barbara A Zieba, Sébastien Küry, Elke Krüger, James R Lupski, Bret L Bostwick, Jordan S Orange

January 4, 2018 | The American Journal of Human Genetics
Carvalho Lab

WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome

Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje WM van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover-Fong, Ceren D Durmaz, Halil Gurhan Karabulut, Ebru Marzioglu-Ozdemir, Atilla Cayir, Mehmet B Duz, Mehmet Seven, Susan Price, Barbara Merfort Ferreira, Angela M Vianna-Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N Jhangiani, Richard A Gibbs, Han G Brunner, V Reid Sutton, James R Lupski, Claudia MB Carvalho

January 1, 2018 | The American Journal of Human Genetics
Carvalho Lab

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

MARIA CECILIA BERTA POLI HARLOWE, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides, Zeynep H Coban-Akdemir, Richard A Gibbs, Shalini N Jhangiani, Donna M Muzny, Claudia MB Carvalho, Deborah A Schady, Mahim Jain, Jill A Rosenfeld, Lisa Emrick, Richard A Lewis, Brendan Lee, Barbara A Zieba, Sébastien Küry, Elke Krüger, James R Lupski, Bret L Bostwick, Jordan S Orange