Rare Disease Publications

February 8, 2019 | PLoS Genetics
Carvalho Lab

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Claudia MB Carvalho, Anna Lindstrand

October 1, 2018 | Journal of the Endocrine Society
Carvalho Lab

Xq26. 3 duplication in a boy with motor delay and low muscle tone refines the X-linked acrogigantism genetic locus

Giampaolo Trivellin, Erin Sharwood, Hadia Hijazi, Claudia MB Carvalho, Bo Yuan, Katrina Tatton-Brown, David Coman, James R Lupski, Andrew M Cotterill, Maya B Lodish, Constantine A Stratakis

October 1, 2018 | Human Mutation
Carvalho Lab

Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia MB Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand

October 1, 2018 | European Journal of Human Genetic
Carvalho Lab

A dual molecular diagnosis: two syndromes in one case?

CD Durmaz, Y Bayram, JJ White, Z Coban Akdemir, SN Jhangiani, RA Gibbs, CMB Carvalho, JR Lupski, OS Fitoz, HG Karabulut

October 1, 2018 | European Journal of Human Genetics
Carvalho Lab

Multilocus genomic variation contributes to atypical Prader-Willi phenotype in monozygotic twins

FS Jehee, VT de Oliveira, J Gurgel-Giannetti, RX Pietra, FVM Rubatino, NV Carobin, GS Vianna, ML de Freitas, KS Fernandes, BSV Ribeiro, HT Bruggenwirth, R Ali-Amin, JJ White, ZC Akdemir, SN Jhangiani, RA Gibbs, JR Lupski, MC Varela, CP Koiffmann, C Rosenberg, CMB Carvalho

October 1, 2018 | European Journal of Human Genetics
Carvalho Lab

Unraveling clinical and genetic heterogeneity in Robinow syndrome

JF Mazzeu, JJ White, Y Bayrum, ZC Akdemir, A Hoischen, BWM van Bon, SN Jhangiani, RA Gibbs, HG Brunner, VR Sutton, JR Lupski, C Carvalho

August 2, 2018 | The American Journal of Human Genetics
Carvalho Lab

Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles

Zeynep Coban-Akdemir, Janson J White, Xiaofei Song, Shalini N Jhangiani, Jawid M Fatih, Tomasz Gambin, Yavuz Bayram, Ivan K Chinn, Ender Karaca, Jaya Punetha, Cecilia Poli, Eric Boerwinkle, Chad A Shaw, Jordan S Orange, Richard A Gibbs, Tuuli Lappalainen, James R Lupski, Claudia MB Carvalho

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