Rare Disease Publications

January 2, 2024 | Nature Biotechnology
Carvalho Lab

Detection of mosaic and population-level structural variants with Sniffles2

Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Claudia MB Carvalho, Christos Proukakis, Fritz J Sedlazeck

January 1, 2024 | bioRxiv
Carvalho Lab

Genome-wide maps of highly‐similar intrachromosomal repeats that mediate ectopic recombination in three human genome assemblies

Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, MIchele Mehaffey, Claudia MB Carvalho, Claudia Gonzaga-Jauregui

January 1, 2024 | EUROPEAN JOURNAL OF HUMAN GENETICS
Carvalho Lab

In trans reciprocal deletion and duplication of the NXN gene causing Robinow syndrome escaping routine diagnostic testing

Siren Berland, Eirik Bratland, Lene Hjertnes, Tuva Baroy, Anna Lindstrand, Claudia Carvalho

January 1, 2024 | EUROPEAN JOURNAL OF HUMAN GENETICS
Carvalho Lab

A complex 9p24 cryptic rearrangement segregating with heart defect in five generations unraveled using a combined genomics approach of chromosomal microarray, FISH, whole …

Ana Krepischi, Silvia Souza da Costa, Andre Rodrigueiro Clavisio Pereira de Oliveira, Mara Pinheiro, Maria Teresa Sanseverino, Veniamin Fishman, Claudia Carvalho, Carla Rosenberg

January 1, 2024 | EUROPEAN JOURNAL OF HUMAN GENETICS
Carvalho Lab

Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21

Jakob Schuy, Kristine Bilgrav Saether, Jasmin Lisfeld, Marlene Ek, Christopher M Grochowski, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Alex Hastie, Claudia Carvalho, Jesper Eisfeldt, Anna Lindstrand

December 28, 2023 | Nucleic Acids Research
Carvalho Lab

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Claudia Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R Lupski

December 21, 2023 | Stem Cell Research
Carvalho Lab

Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome

Danielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, Magdalena Delacruz, Jesse Bengtsson, Claudia MB Carvalho, Aleksandar Bajic, Hyekyung Park, Jean J Kim, Paymaan Jafar-Nejad, Christine Coquery, Davut Pehlivan, Bernhard Suter, Mirjana Maletic-Savatic

October 9, 2023 | PLoS Genetics
Dudley Lab

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes

Michael J. Xie, Gareth A. Cromie, Katherine Owens, Martin S. Timour, Michelle Tang, J. Nathan Kutz, Ayman W. El-Hattab, Richard N. McLaughlin Jr., Aimée M. Dudley

October 3, 2023 | bioRxiv
Carvalho Lab

Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures

Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G Mehaffey, KyungHee Park, Wolfram Hoeps, Eva Benito-Garagorri, Patrick Hasenfeld, Jan O Korbel, Medhat Mahmoud, Luis F Paulin, Shalini N Jhangiani, Donna M Muzny, Jawid M Faith, Richard A Gibbs, Matthew Pendleton, Eoghan Harrington, Sissel Juul, Anna Lindstrand, Fritz J Sedlazeck, Davut Pehlivan, James R Lupski, Claudia MB Carvalho

October 1, 2023 | Research and Practice in Thrombosis and Haemostasis
Carvalho Lab

OC 57.4 Deciphering Novel Complex Structural Variations in Severe Hemophilia a Patients by Optical Genome Mapping

S Fahiminiya, S Oikonomopoulos, G Rivard, M Gandhi, P Scott, A Montpetit, S Chen, K Park, C Vezina, J St-Louis, J Ragoussis, C Carvalho, G Mitchell, J Soucy, J Gauthier