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Items: 1 to 20 of 1068

1.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger
Hum Mutat. 2022 Dec; 43(12): 2308–2323. Published online 2022 Nov 20. doi: 10.1002/humu.24491
PMCID:
PMC10946553
ArticlePDF–2.3M
2.
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi
Hum Mutat. 2022 Dec; 43(12): 1872–1881. Published online 2022 Nov 15. doi: 10.1002/humu.24498
PMCID:
PMC9772137
ArticlePDF–1.5M
3.
MicroRNA binding site variation is enriched in psychiatric disorders
Michael P. Geaghan, William R. Reay, Murray J. Cairns
Hum Mutat. 2022 Dec; 43(12): 2153–2169. Published online 2022 Oct 23. doi: 10.1002/humu.24481
PMCID:
PMC10947041
ArticlePDF–1.6M
4.
SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 2170–2186. Published online 2022 Oct 19. doi: 10.1002/humu.24482
PMCID:
PMC9771967
ArticlePDF–679K
5.
Destabilization of mutated human PUS3 protein causes intellectual disability
Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt
Hum Mutat. 2022 Dec; 43(12): 2063–2078. Published online 2022 Oct 2. doi: 10.1002/humu.24471
PMCID:
PMC10092196
ArticlePDF–2.2M
6.
Mutation update for the ACTN2 gene
Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese
Hum Mutat. 2022 Dec; 43(12): 1745–1756. Published online 2022 Sep 27. doi: 10.1002/humu.24470
PMCID:
PMC10087778
ArticlePDF–1.2M
7.
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism
Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M. Grochowski, Moez Dawood, Michael M. Khayat, He Li, Shoudong Li, Shalini Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M. Muzny, Harsha Doddapaneni, Jennifer E. Posey, James R. Lupski, Aniko Sabo, David R. Murdock, Fritz J. Sedlazeck, Richard A. Gibbs
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 2033–2053. Published online 2022 Sep 24. doi: 10.1002/humu.24461
PMCID:
PMC10167679
ArticlePDF–2.2M
8.
Next generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17
Sharon A. Savage, Kristine Jones, Kedest Teshome, Adriana Lori, Lisa J. McReynolds, Marena R. Niewisch
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 1856–1859. Published online 2022 Sep 24. doi: 10.1002/humu.24469
PMCID:
PMC9771914
ArticlePDF–576K
9.
Rapid genome sequencing for pediatrics
Jana Jezkova, Sophie Shaw, Nicola V. Taverner, Hywel J. Williams
Hum Mutat. 2022 Nov; 43(11): 1507–1518. Published online 2022 Sep 23. doi: 10.1002/humu.24466
PMCID:
PMC9826377
ArticlePDF–819K
10.
Long-read sequencing for molecular diagnostics in constitutional genetic disorders
Laura K. Conlin, Erfan Aref-Eshghi, Deborah A. McEldrew, Minjie Luo, Ramakrishnan Rajagopalan
Hum Mutat. Author manuscript; available in PMC 2023 Nov 1.
Published in final edited form as: Hum Mutat. 2022 Nov; 43(11): 1531–1544. Published online 2022 Sep 18. doi: 10.1002/humu.24465
PMCID:
PMC9561063
ArticlePDF–554K
11.
A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition
DaNae R. Woodard, Steffi Daniel, Emi Nakahara, Ali Abbas, Sophia M. DiCesare, Gracen E. Collier, John D. Hulleman
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 1945–1955. Published online 2022 Sep 14. doi: 10.1002/humu.24452
PMCID:
PMC9772001
ArticlePDF–1.6M
12.
Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery
Erick R. Scott, Yao Yang, Mariana R. Botton, Yoshinori Seki, Keito Hoshitsuki, John Harting, Primo Baybayan, Neal Cody, Paola Nicoletti, Takaya Moriyama, Shreyasee Chakraborty, Jun J. Yang, Lisa Edelmann, Eric E. Schadt, Jonas Korlach, Stuart A. Scott
Hum Mutat. Author manuscript; available in PMC 2023 Nov 1.
Published in final edited form as: Hum Mutat. 2022 Nov; 43(11): 1557–1566. Published online 2022 Sep 12. doi: 10.1002/humu.24457
PMCID:
PMC9875722
ArticlePDF–1.2M
13.
A calibrated cell-based functional assay to aide classification of MLH1 DNA mismatch repair gene variants
Abhijit Rath, Alexander A. Radecki, Kaussar Rahman, Rachel B. Gilmore, Jonathan R. Hudson, Matthew Cenci, Sean V. Tavtigian, James P. Grady, Christopher D. Heinen
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 2295–2307. Published online 2022 Sep 12. doi: 10.1002/humu.24462
PMCID:
PMC9772141
ArticlePDF–848K
14.
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou
Hum Mutat. 2022 Dec; 43(12): 1970–1978. Published online 2022 Sep 7. doi: 10.1002/humu.24453
PMCID:
PMC9771894
ArticlePDF–1.3M
15.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Geeske M. van Woerden, Richelle Senden, Charlotte de Konink, Rossella A. Trezza, Anwar Baban, Jennifer A. Bassetti, Yolande van Bever, Lynne M. Bird, Bregje W. van Bon, Alice S. Brooks, Qiaoning Guan, Eric W. Klee, Carlo Marcelis, Joel M. Rosado, Lisa A. Schimmenti, Amy R. Shikany, Paulien A. Terhal, Kathryn Nicole Weaver, Marja W. Wessels, Hester van Wieringen, Anna C. Hurst, Catherine F. Gooch, Katharina Steindl, Pascal Joset, Anita Rauch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas
Hum Mutat. 2022 Oct; 43(10): 1377–1395. Published online 2022 Jul 29. doi: 10.1002/humu.24425
PMCID:
PMC9544731
ArticlePDF–2.5M
16.
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
Elena J. Tucker, Niklas Gutfreund, Marc‐Antoine Belaud‐Rotureau, David Gilot, Tiffany Brun, Brianna L. Kline, Katrina M. Bell, Mathilde Domin‐Bernhard, Camille Théard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L. Ayers, Andrew H. Sinclair, Volker Dötsch, Sylvie Jaillard
Hum Mutat. 2022 Oct; 43(10): 1443–1453. Published online 2022 Jul 29. doi: 10.1002/humu.24432
PMCID:
PMC9542062
ArticlePDF–2.1M
17.
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation
Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, Kristina Lagerstedt, Helena Malmgren, Anna Falk, Giedre Grigelioniene, Anna Lindstrand
Hum Mutat. 2022 Nov; 43(11): 1567–1575. Published online 2022 Jul 23. doi: 10.1002/humu.24440
PMCID:
PMC9796698
ArticlePDF–2.1M
18.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
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
Hum Mutat. 2022 Sep; 43(9): 1333–1342. Published online 2022 Jul 23. doi: 10.1002/humu.24436
PMCID:
PMC9544292
ArticlePDF–851K
19.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A. N. Meester, Bart Loeys
Hum Mutat. 2022 Dec; 43(12): 1824–1828. Published online 2022 Jul 16. doi: 10.1002/humu.24433
PMCID:
PMC10084246
ArticlePDF–1.1M
20.
Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy
Josefine d. S. Borch, Thomas Krag, Sonja D. Holm‐Yildiz, Hakan Cetin, Tuva A. Solheim, Freja Fornander, Volker Straub, Morten Duno, John Vissing
Hum Mutat. 2022 Sep; 43(9): 1234–1238. Published online 2022 Jul 16. doi: 10.1002/humu.24415
PMCID:
PMC9545859
ArticlePDF–636K

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