Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism

por Annear, Dale J., Vandeweyer, Geert, Sanchis-Juan, Alba, Raymond, F. Lucy, Kooy, R. Frank
Publicado 2022

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

por Annear, Dale J., Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E., Raymond, Lucy, Kooy, R. Frank
Publicado 2021

Improvement of large copy number variant detection by whole genome nanopore sequencing

por Cuenca-Guardiola, Javier, de la Morena-Barrio, Belén, García, Juan L., Sanchis-Juan, Alba, Corral, Javier, Fernández-Breis, Jesualdo T.
Publicado 2022

Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins

por Hasenahuer, Marcia A., Sanchis-Juan, Alba, Laskowski, Roman A., Baker, James A., Stephenson, James D., Orengo, Christine A., Raymond, F. Lucy, Thornton, Janet M.
Publicado 2023

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

por Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy, Grozeva, Detelina
Publicado 2019

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

por Ratnaike, Thiloka E, Greene, Daniel, Wei, Wei, Sanchis-Juan, Alba, Schon, Katherine R, van den Ameele, Jelle, Raymond, Lucy, Horvath, Rita, Turro, Ernest, Chinnery, Patrick F
Publicado 2021

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

por Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy
Publicado 2020

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

por French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Publicado 2019

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

por Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A., Fratter, Carl, Turro, Ernest, Caulfield, Mark J., Taylor, Jenny C., Rahman, Shamima, Chinnery, Patrick F.
Publicado 2020

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

por Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A., Fratter, Carl, Turro, Ernest, Caulfield, Mark J., Taylor, Jenny C., Rahman, Shamima, Chinnery, Patrick F.
Publicado 2020

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

por Chen, Xiao, Sanchis-Juan, Alba, French, Courtney E., Connell, Andrew J., Delon, Isabelle, Kingsbury, Zoya, Chawla, Aditi, Halpern, Aaron L., Taft, Ryan J., Bentley, David R., Butchbach, Matthew E. R., Raymond, F. Lucy, Eberle, Michael A.
Publicado 2020

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

por French, Courtney E., Dolling, Helen, Mégy, Karyn, Sanchis-Juan, Alba, Kumar, Ajay, Delon, Isabelle, Wakeling, Matthew, Mallin, Lucy, Agrawal, Shruti, Austin, Topun, Walston, Florence, Park, Soo-Mi, Parker, Alasdair, Piyasena, Chinthika, Bradbury, Kimberley, Ellard, Sian, Rowitch, David H., Raymond, F. Lucy
Publicado 2022

Babelomics 5.0: functional interpretation for new generations of genomic data

por Alonso, Roberto, Salavert, Francisco, Garcia-Garcia, Francisco, Carbonell-Caballero, Jose, Bleda, Marta, Garcia-Alonso, Luz, Sanchis-Juan, Alba, Perez-Gil, Daniel, Marin-Garcia, Pablo, Sanchez, Ruben, Cubuk, Cankut, Hidalgo, Marta R., Amadoz, Alicia, Hernansaiz-Ballesteros, Rosa D., Alemán, Alejandro, Tarraga, Joaquin, Montaner, David, Medina, Ignacio, Dopazo, Joaquin
Publicado 2015

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

por Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M., Kernohan, Kristin D., Dyack, Sarah, Raymond, F. Lucy
Publicado 2018

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

por Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy, Carss, Keren J.
Publicado 2018

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

por de la Morena-Barrio, Belén, Stephens, Jonathan, de la Morena-Barrio, María Eugenia, Stefanucci, Luca, Padilla, José, Miñano, Antonia, Gleadall, Nicholas, García, Juan Luis, López-Fernández, María Fernanda, Morange, Pierre-Emmanuel, Puurunen, Marja, Undas, Anetta, Vidal, Francisco, Raymond, Frances Lucy, Vicente, Vicente, Ouwehand, Willem H., Corral, Javier, Sanchis-Juan, Alba
Publicado 2022

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

por Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Publicado 2019

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

por Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O’Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Publicado 2023

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

por Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan
Publicado 2020

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

por Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fadi F., Ceulemans, Berten, Leroy, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Stephen, Sanchis-Juan, Alba, Grozeva, Detelina, Rogers, Anthony S., Diekhans, Mark, Guigó, Roderic, Petryszak, Robert, Minassian, Berge A., Cavalleri, Gianpiero, Vitsios, Dimitrios, Petrovski, Slavé, Harrow, Jennifer, Flicek, Paul, Lucy Raymond, F., Lench, Nicholas J., Jonghe, Peter De, Mudge, Jonathan M., Weckhuysen, Sarah, Sisodiya, Sanjay M., Frankish, Adam
Publicado 2019