Human mutation

Keyphrases

Publications

volume 43, number 6, 2022

J Michael Harnish, Lucian Li, Sanja Rogic, Guillaume Poirier-Morency, Seon-Young Kim, null null, Kym M Boycott, Michael F Wangler, Hugo J Bellen, Philip Hieter, Paul Pavlidis, Zhandong Liu, Shinya Yamamoto
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. Human mutation 43 (6) (2022)
K McWalter, E Torti, M Morrow, J Juusola, K Retterer
Discovery of over 200 new and expanded genetic conditions using GeneMatcher. Human mutation 43 (6) (2022)
Lynn S Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R Chao, Gabrielle Lemire, Ikeoluwa Osei-Owusu, Grace E VanNoy, Michael Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O'Leary, Alysia Lovgren, Lawrence Babb, Christina A Austin-Tse, Heidi L Rehm, Daniel G MacArthur, Anne H O'Donnell-Luria
seqr: A web-based analysis and collaboration tool for rare disease genomics. Human mutation 43 (6) (2022)
Julia Foreman, Simon Brent, Daniel Perrett, Andrew P Bevan, Sarah E Hunt, Fiona Cunningham, Matthew E Hurles, Helen V Firth
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. Human mutation 43 (6) (2022)
Toyofumi Fujiwara, Jae-Moon Shin, Atsuko Yamaguchi
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm. Human mutation 43 (6) (2022)
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R. Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Assaf Sheffer, Jessica X Chong, Yaron Einhorn, Miro Cupak, Nara Lygia de Macena Sobreira
Variant-level matching for diagnosis and discovery: Challenges and opportunities. Human mutation 43 (6) (2022)
Ada Hamosh, Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S Rodrigues, Corina Antonescu, Kimberly F Doheny, David Valle, Nara Lygia de Macena Sobreira
The impact of GeneMatcher on international data sharing and collaboration. Human mutation 43 (6) (2022)
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernandez-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José María Fernandez, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada-de-la-Paz, Jordi Rambla De Argila, Ana Rath, Olaf H Rieß, Peter Nick Robinson, David Salgado, Damian Smedley, J Dylan Spalding, Peter A C 't Hoen, Ana Töpf, Irina T Zaharieva, Holm Graessner, Ivo Glynne Gut, Hanns Lochmüller, Sergi Beltran
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human mutation 43 (6) (2022)
Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt-Robinson, Anna Wedell, Anna Lindstrand, Valtteri Wirta, Henrik Stranneheim
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. Human mutation 43 (6) (2022)
Julie P Taylor, Alka Malhotra, Nicole J Burns, Amanda R Clause, Carolyn M Brown, Brendan T Burns, Anjana Chandrasekhar, Zinayida Schlachetzki, Maren Bennett, Erin Thorpe, Ryan J Taft, Denise L Perry, Alison J Coffey
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships. Human mutation 43 (6) (2022)
Kym M Boycott, Danielle R Azzariti, Ada Hamosh, Heidi L Rehm
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking. Human mutation 43 (6) (2022)
Hannah G Driver, Taila Hartley, E Magda Price, Andrei L Turinsky, Orion J Buske, Matthew Osmond, Arun K Ramani, Emily Kirby, Kristin D Kernohan, Madeline Couse, Hillary Elrick, Kevin Lu, Pouria Mashouri, Aarthi Mohan, Delvin So, Conor Klamann, Hannah G B H Le, Andrea Herscovich, Christian R Marshall, Andrew Statia, Care Rare Canada Consortium, Bartha Maria Knoppers, Michael Brudno, Kym M Boycott
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery. Human mutation 43 (6) (2022)
Matthew Osmond, Taila Hartley, Brittney Johnstone, Sasha Andjic, Marta Girdea, Meredith Gillespie, Orion Buske, Sergiu Dumitriu, Veronika Koltunova, Arun Ramani, Kym M Boycott, Michael Brudno
PhenomeCentral: 7 years of rare disease matchmaking. Human mutation 43 (6) (2022)

volume 43, number 7, 2022

Lia DeRoin, Marcela Cavalcante de Andrade Silva, Kristin Petras, Kelly Arndt, Nathaniel Phillips, Pankhuri Wanjari, Hari Prasanna Subramanian, David Montes, James McElherne, Megan Theissen, Renee Briese, Soma Das, Lucy A Godley, Jeremy Segal, Daniela Del Gaudio, Carrie Fitzpatrick, Jane E Churpek
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Human mutation 43 (7) (2022)
Silke Peeters, Pauline De Kinderen, Josephina A N Meester, Aline Verstraeten, Bart L Loeys
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. Human mutation 43 (7) (2022)
Htoo Aung Wai, Matthew Constable, Cosima Drewes, Ian C Davies, Eliska Svobodova, Esther Dempsey, Anand Saggar, Tessa Homfray, Sahar Mansour, Sofia Douzgou, Kate Barr, Catherine Mercer, David Hunt, Andrew G L Douglas, Diana Baralle
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis. Human mutation 43 (7) (2022)
Alayne P Meyer, Megan E Forrest, Stefan Nicolau, Wojciech Wiszniewski, Mary Pat Bland, Chang-Yong Tsao, Anthony Antonellis, Nicolas J Abreu
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. Human mutation 43 (7) (2022)
Paul A James, Cristina Fortuno, Na Li, Belle W X Lim, Ian G Campbell, Amanda B Spurdle
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria. Human mutation 43 (7) (2022)
Fanxuan Deng, Dafydd Gareth Evans, Miriam Jane Smith
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population. Human mutation 43 (7) (2022)
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R Heckenlively, Samuel G Jacobson, Kaylie D Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell, André M Vieira Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 43 (7) (2022)
Andreas Halman, Egor Dolzhenko, Alicia Oshlack
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data. Human mutation 43 (7) (2022)
Juan Li, Yu Yuan, Chaorong Liu, Yuchen Xu, Neng Xiao, Hongyu Long, Zhaohui Luo, Shujuan Meng, Hua Wang, Bo Xiao, Xiao Mao, Lili Long
DNAH14 variants are associated with neurodevelopmental disorders. Human mutation 43 (7) (2022)
Ken Natsuga, Yoshikazu Furuta, Shota Takashima, Takuma Nohara, Hsin-Yu Huang, Satoru Shinkuma, Hideki Nakamura, Yousuke Katsuda, Hideaki Higashi, Chao-Kai Hsu, Satoshi Fukushima, Hideyuki Ujiie
Cas9-guided haplotyping of three truncation variants in autosomal recessive disease. Human mutation 43 (7) (2022)
Ariadne R Lima, Barbara M Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J White, Moez Dawood, Tulio C Lins, Marcela A Chiabai, Ellen van Beusekom, Mara S Cordoba, Erica C C Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri-Costa, Décio Brunoni, Talyta M Canó, Alexander A L Jorge, Chong A Kim, Rachel Honjo, Débora R Bertola, Raissa M Dandalo-Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz-Gulec, Evren Gumus, Gülay C Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban-Akdemir, Tadahiro Mitani, Shalini N Jhangiani, Donna M Muzny, Neysa A P Regattieri, Robert Pogue, Rinaldo W Pereira, Paulo A Otto, Richard A Gibbs, Bassam R Ali, Hans van Bokhoven, Han G Brunner, V Reid Sutton, James R. Lupski, Angela M Vianna-Morgante, Claudia M B Carvalho, Juliana Forte Mazzeu
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human mutation 43 (7) (2022)
Saloni Sharma, Brenna Hourigan, Zain Patel, Jill Anne Rosenfeld, Katie M Chan, Michael F Wangler, Joanna S Yi, Anna Lehman, null null, Gabriella Horvath, Paul A Cloos, Qiumin Tan
Novel CIC variants identified in individuals with neurodevelopmental phenotypes. Human mutation 43 (7) (2022)
Huayang Zhang, Changming Chen, Xi Wu, Can Lou, Qian Liang, Wenman Wu, Xuefeng Wang, Qiulan Ding
Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression. Human mutation 43 (7) (2022)

volume 43, number 8, 2022

Andreas Laner, Ales Maver, Johan T den Dunnen
Human Mutation special issue on "Variant Effect Prediction". Human mutation 43 (8) (2022)
Gijs W E Santen, Harry G Leitch, Jan Cobben
Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases. Human mutation 43 (8) (2022)
Julius O B Jacobsen, Catherine Kelly, Valentina Cipriani, Genomics England Research Consortium, Christopher J Mungall, Justin Reese, Daniel Danis, Peter Nick Robinson, Damian Smedley
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease. Human mutation 43 (8) (2022)
Christian Gilissen, Sanne P Smeekens, Marcel R Nelen, Helger G Yntema, Erik-Jan Kamsteeg, Rolph Pfundt, Christian Gilissen
Clinical exome sequencing-Mistakes and caveats. Human mutation 43 (8) (2022)
Dmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, Riccardo Berutti, Holger Prokisch
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes. Human mutation 43 (8) (2022)
Anna Benet-Pagès, Kate R Rosenbloom, Luis R Nassar, Christopher M Lee, Brian J Raney, Hiram Clawson, Daniel Schmelter, Jonathan Casper, Jairo Navarro Gonzalez, Gerardo Perez, Brian T Lee, Ann S Zweig, W James Kent, Maximillian Haeussler, Robert M Kuhn
Variant interpretation: UCSC Genome Browser Recommended Track Sets. Human mutation 43 (8) (2022)

volume 43, number 9, 2022

Andreea Chiorean, Kirsten M Farncombe, Sean Delong, Veronica Andric, Safa Ansar, Clarissa Chan, Kaitlin Clark, Arpad M Danos, Yizhuo Gao, Rachel H Giles, Anna Goldenberg, Payal Jani, Kilannin Krysiak, Lynzey Kujan, Samantha Macpherson, Eamonn R Maher, Liam G McCoy, Yasser Salama, Jason Saliba, Lana Sheta, Malachi Griffith, Malachi Griffith, Lauren Erdman, Arun Ramani, Raymond H Kim
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease. Human mutation 43 (9) (2022)
Adrienne Samani, Katherine G English, Michael A Lopez, Camille L Birch, Donna M Brown, Gurpreet Kaur, Elizabeth A Worthey, Matthew S Alexander
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants. Human mutation 43 (9) (2022)
Adeline Goudal, Matilde Karakachoff, Pierre Lindenbaum, Estelle Baron, Stéphanie Bonnaud, Florence Kyndt, Marine Arnaud, Damien Minois, Emmanuelle Bourcereau, Aurélie Thollet, Jean-François Deleuze, Emmanuelle Genin, François Wiart, Jean-Luc Pasquié, Vincent Galand, Frédéric Sacher, Christian Dina, Richard Redon, Stéphane Bezieau, Jean-Jacques Schott, Vincent Probst, Julien Barc
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management. Human mutation 43 (9) (2022)
Marcello Scala, Nathalie Drouot, Suzanna C MacLennan, Marja W Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S Lipska-Ziętkiewicz, Jasper J Saris, Nicolas Charlet-Berguerand, Federico Zara, Pasquale Striano, Amelie Piton
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Human mutation 43 (9) (2022)
Juliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, Elise Brischoux-Boucher, Pascale Saugier-Veber, Alice Goldenberg, Francois Lecoquierre, Nathalie Drouot, Anne-Claire Richard, Gabriella Vera, Sophie Coutant, Olivier Quenez, Marion Rolain, Céline Bonnet, Myriam Bronner, Magalie Lecourtois, Gaël Nicolas
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. Human mutation 43 (9) (2022)
Selvan Bavan, Howard P Goodkin, Diane M Papazian
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients. Human mutation 43 (9) (2022)
Agnese Giovannetti, Salvatore Daniele Bianco, Alice Traversa, Noemi Panzironi, Alessandro Bruselles, Sara Lazzari, Niccolò Liorni, Tartaglia Marco, Massimo Carella, Antonio Pizzuti, Tommaso Mazza, Viviana Caputo
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants. Human mutation 43 (9) (2022)
Qi Liu, Muhammad Faaras Iqbal, Tahir Yaqub, Sehrish Firyal, Yiqiang Zhao, Mark Stoneking, Mingkun Li
The transmission of human mitochondrial DNA in four-generation pedigrees. Human mutation 43 (9) (2022)
Michael Dean, Karobi Moitra, Rando Allikmets
The human ATP-binding cassette (ABC) transporter superfamily. Human mutation 43 (9) (2022)
Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees-Stuivenberg, Mark Drost, Bryony Thompson, Amanda B Spurdle, Niels de Wind
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome. Human mutation 43 (9) (2022)
Josefine de Stricker Borch, Thomas Krag, Sonja D Holm-Yildiz, Hakan Cetin, Tuva A Solheim, Freja Fornander, Volker Straub, Morten Duno, John Vissing
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy. Human mutation 43 (9) (2022)
Oluyomi M Adesoji, Herbert Schulz, Patrick May, Roland Krause, Holger Lerche, Michael Nothnagel, null null
Benchmarking of univariate pleiotropy detection methods applied to epilepsy. Human mutation 43 (9) (2022)
Laura Mary, Delphine Leclerc, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects. Human mutation 43 (9) (2022)
Tess Holling, Jasmin Lisfeld, Jessika Johannsen, Jakob Matschke, Feizhi Song, Hermann Clemens Altmeppen, Kerstin Kutsche
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala). Human mutation 43 (9) (2022)
Guy Helman, Asako Takanohashi, Tracy L Hagemann, Ming D Perng, Marzena Walkiewicz, Sarah Woidill, Sunetra Sase, Zachary Cross, Yangzhu Du, Ling Zhao, Amy Waldman, Bret C Haake, Ali Fatemi, Michael Brenner, Omar Sherbini, Albee Messing, Adeline Vanderver, Cas Simons
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Human mutation 43 (9) (2022)
Daniel E Lysko, Ana M Meireles, Chiara Folland, Elyshia McNamara, Nigel G Laing, Phillipa J Lamont, Gianina Ravenscroft, William S Talbot
Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy. Human mutation 43 (9) (2022)
Douglas Ralph, Michael A Levine, Gabriele Richard, Michelle M Morrow, Elizabeth K Flynn, Jouni Uitto, Qiaoli Li
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma. Human mutation 43 (9) (2022)
Edward Ryan A Collantes, Manuel S Delfin, Baojian Fan, Justine May R Torregosa, Christine Siguan-Bell, Nilo Vincent de Guzman Florcruz, Jose Maria D Martinez, Barbara Joy Masna-Hidalgo, Vincent Paul T Guzman, Jewel Faith Anotado-Flores, Faye D Levina, Sophia Raine C Hernandez, Anthony A Collantes, Michael Carreon Sibulo, Shisong Rong, Janey L Wiggs
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma. Human mutation 43 (9) (2022)