Works matching IS 10597794 AND DT 2024

Results: 37

An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6496088
By:
- Clayton, Joshua S.;
- Johari, Mridul;
- Taylor, Rhonda L.;
- Dofash, Lein;
- Allan, Georgina;
- Monahan, Gavin;
- Houweling, Peter J.;
- Ravenscroft, Gianina;
- Laing, Nigel G.;
- Aziz, Aziz ur Rehman
Publication type:
Article
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6248437
By:
- Balendran-Braun, Sukirthini;
- Vinatzer, Ursula;
- Liebmann-Reindl, Sandra;
- Lux, Manuela;
- Oliva, Petra;
- Sansen, Stefaan;
- Mechtler, Thomas;
- Kasper, David C.;
- Streubel, Berthold;
- Chen, Jian-Min
Publication type:
Article
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8444122
By:
- Tian, Yongan;
- Liu, Mengli;
- Lu, Yu;
- Zhao, Xiaoyan;
- Yan, Zhiqiang;
- Sun, Yi;
- Ma, Jingyuan;
- Tang, Wenxue;
- Wang, Haili;
- Xu, Hongen;
- Chen, Jian-Min
Publication type:
Article
Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3503253
By:
- Hu, Chaoping;
- Shi, Yiyun;
- Zhao, Lei;
- Zhu, Wenhua;
- Jiao, Kexin;
- Yu, Lifei;
- Li, Xihua;
- Wang, Yi;
- De Baere, Elfride
Publication type:
Article
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8813121
By:
- Pajusalu, Sander;
- Vals, Mari-Anne;
- Serrano, Mercedes;
- Witters, Peter;
- Cechova, Anna;
- Honzik, Tomáš;
- Edmondson, Andrew C.;
- Ficicioglu, Can;
- Barone, Rita;
- De Lonlay, Pascale;
- Bérat, Claire-Marine;
- Vuillaumier-Barrot, Sandrine;
- Lam, Christina;
- Patterson, Marc C.;
- Janssen, Mirian C. H.;
- Martins, Esmeralda;
- Quelhas, Dulce;
- Sykut-Cegielska, Jolanta;
- Mousa, Jehan;
- Urreizti, Roser
Publication type:
Article
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8520275
By:
- Thet, Monica;
- Plazzer, John-Paul;
- Capella, Gabriel;
- Latchford, Andrew;
- Nadeau, Emily A. W.;
- Greenblatt, Marc S.;
- Macrae, Finlay;
- Aziz, Aziz ur Rehman
Publication type:
Article
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/7225526
By:
- Qiu, Xueping;
- Jin, Xin;
- Li, Jin;
- Zhang, Yuanzhen;
- Ma, Jianhong;
- Zheng, Fang;
- Chen, Jian-Min
Publication type:
Article
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/7353984
By:
- Lønning, Per E.;
- Nikolaienko, Oleksii;
- Knappskog, Stian;
- Hitchins, Megan
Publication type:
Article
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/4678670
By:
- Ma, Jian;
- Zhang, Hongwei;
- Lv, Yuqiang;
- Gao, Min;
- Gai, Zhongtao;
- Liu, Yi;
- Aziz, Aziz ur Rehman
Publication type:
Article
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/7377504
By:
- Derksen, Alexa;
- Thompson, Rachel;
- Shaikh, Madeeha;
- Spendiff, Sally;
- Perkins, Theodore J.;
- Lochmüller, Hanns;
- Olszewska, Marta
Publication type:
Article
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9517114
By:
- Lin, Zibin;
- Xiang, Jiale;
- Sun, Xiangzhong;
- Song, Nana;
- Liu, Xiaozhou;
- Cai, Qinming;
- Yang, Jing;
- Ye, Haodong;
- Xu, Jiangfan;
- Zhang, Hongfu;
- Peng, Jiguang;
- Sun, Yu;
- Peng, Zhiyu;
- Scott, Stuart
Publication type:
Article
Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8807171
By:
- Perrier, Stefanie;
- Macintosh, Julia;
- Misiaszek, Agata D.;
- Lambert, Gabrielle;
- Guerrero, Kether;
- Tran, Luan T.;
- Müller, Christoph W.;
- Pastinen, Tomi;
- Maegawa, Gustavo H. B.;
- Thiffault, Isabelle;
- Bernard, Geneviève;
- Oetting, William
Publication type:
Article
Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3046495
By:
- Köksal, Zehra;
- Børsting, Claus;
- Bailliet, Graciela;
- Burgos, Germán;
- Carvalho, Elizeu;
- Casas-Vargas, Andrea;
- Castillo, Adriana;
- Gomes, Marilia Brito;
- Martínez, Beatriz;
- Ossa, Humberto;
- Parolin, María Laura;
- Quiroz, Alfredo;
- Toscanini, Ulises;
- Usaquén, William;
- Velázquez, Irina F.;
- Vullo, Carlos;
- Gusmão, Leonor;
- Pereira, Vania;
- Olszewska, Marta
Publication type:
Article
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6420246
By:
- Clowes, Virginia;
- Ma, Xiaolun;
- Maude, Hannah;
- Dennis, Catherine;
- Gao, Qing;
- Quinn, Geraldine;
- O'Toole, Edel A.;
- Batta, Kapila;
- Cebola, Inês;
- Cui, Wei;
- Aziz, Aziz ur Rehman
Publication type:
Article
Pi*S and Pi*Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6472805
By:
- Escuela-Escobar, Ainhoa;
- Herrera-Luis, Esther;
- Martín-González, Elena;
- Hernández-Pérez, José María;
- González Carracedo, Mario A.;
- Pérez, José Antonio Pérez;
- Edwards, Stacey
Publication type:
Article
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9278518
By:
- Li, Ruiqi;
- Mei, Mei;
- Zhou, Ling;
- Zhao, Haijing;
- Yang, Min;
- Li, Yingshi;
- Chen, Xiaoli;
- Wang, Wenjun;
- Yuan, Ping;
- Chen, Jian-Min
Publication type:
Article
Treatability of the KMT2‐Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide‐Based Treatments.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9933129
By:
- Zardetto, Bianca;
- van Roon-Mom, Willeke;
- Aartsma-Rus, Annemieke;
- Lauffer, Marlen C.;
- Andresen, Brage
Publication type:
Article
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/7760556
By:
- Sönmezler, Ece;
- Stuani, Cristiana;
- Kurul, Semra Hız;
- Güngör, Serdal;
- Buratti, Emanuele;
- Oktay, Yavuz
Publication type:
Article
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3043736
By:
- DeMille, Desiree;
- McDonald, Jamie;
- Bernabeu, Carmelo;
- Racher, Hilary;
- Olivieri, Carla;
- Cantarini, Claudia;
- Sbalchiero, Anna;
- Thompson, Bryony A.;
- Jovine, Luca;
- Shovlin, Claire L.;
- Dupuis-Girod, Sophie;
- Lesca, Gaetan;
- Tusseau, Maud;
- Ganguly, Arupa;
- Kasthuri, Raj S.;
- Jessen, Jaime;
- Massink, Maarten P. G.;
- Shoji Ichikawa;
- Bayrak-Toydemir, Pinar
Publication type:
Article
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9268911
By:
- Ming Chen;
- Motyer, Allan;
- Taylor, Bruce V.;
- McComish, Bennet J.;
- Burdon, Kathryn P.;
- Charlesworth, Jac C.;
- Blackburn, Nicholas B.
Publication type:
Article
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6411444
By:
- Schuetz, Robert J.;
- Antoniou, Austin A.;
- Lammi, Grant E.;
- Gordon, David M.;
- Kuck, Harkness C.;
- Chaudhari, Bimal P.;
- White, Peter
Publication type:
Article
The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1844190
By:
- Guo, Qingbao;
- Hao, Fangbin;
- Wang, Qian-Nan;
- Li, Jingjie;
- Liu, Shitong;
- Zou, Zhengxing;
- Liu, Simeng;
- Wang, Xiaopeng;
- Yu, Dan;
- Gao, Gan;
- Zhang, Qian;
- Pei, Songtao;
- Feng, Jie;
- Yang, Rimiao;
- Wang, Minjie;
- Fu, Heguan;
- Han, Cong;
- Bao, Xiangyang;
- Duan, Lian
Publication type:
Article
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9115364
By:
- Guo, Fen;
- Liu, Ruby;
- Pan, Yinghong;
- Colasanto, Mary;
- Collins, Christin;
- Hegde, Madhuri
Publication type:
Article
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9920230
By:
- Zardetto, Bianca;
- Lauffer, Marlen C.;
- van Roon-Mom, Willeke;
- Aartsma-Rus, Annemieke
Publication type:
Article
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/4830045
By:
- Privat, Maud;
- Ponelle-Chachuat, Flora;
- Viala, Sandrine;
- Uhrhammer, Nancy;
- Lepage, Mathis;
- Cayre, Anne;
- Bidet, Yannick;
- Bignon, Yves-Jean;
- Gay-Bellile, Mathilde;
- Cavaillé, Mathias
Publication type:
Article
Genome Sequencing of Idiopathic Speech Delay.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9692863
By:
- Eising, Else;
- Vino, Arianna;
- Mabie, Heather L.;
- Campbell, Thomas F.;
- Shriberg, Lawrence D.;
- Fisher, Simon E.
Publication type:
Article
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1611838
By:
- Bruhn, Helene;
- Naess, Karin;
- Ygberg, Sofia;
- Peña-Pérez, Lucía;
- Lesko, Nicole;
- Wibom, Rolf;
- Freyer, Christoph;
- Stranneheim, Henrik;
- Wedell, Anna;
- Wredenberg, Anna
Publication type:
Article
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8205102
By:
- Jankowski, M.;
- Daca-Roszak, P.;
- Bałasz-Chmielewska, I.;
- Ustaszewski, A.;
- Żurowska, A.;
- Lipska-Ziętkiewicz, B. S.;
- Ziętkiewicz, E.
Publication type:
Article
Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/5021689
By:
- Gao, Guodong;
- Tian, Yinglun;
- Hung, Kan-Lin;
- Fan, Dongwei;
- Xu, Nanfang;
- Wang, Shenglin
Publication type:
Article
Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by Whole-Exome Sequencing in Patients with Crohn's Disease.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/5573272
By:
- Chen, Jintong;
- Huang, Yanni;
- Chen, Huaning;
- Yang, Qinyu;
- Zheng, Weiwei;
- Lin, Yanjun;
- Xue, Mengli;
- Wang, Chengdang
Publication type:
Article
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9857442
By:
- Zhang, Xue-Yuan;
- Zhang, Jing;
- Lu, Yi
Publication type:
Article
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8849348
By:
- Borovikov, Artem;
- Galeeva, Nailya;
- Marakhonov, Andrey;
- Murtazina, Aysylu;
- Kadnikova, Varvara;
- Davydenko, Kseniya;
- Orlova, Anna;
- Sparber, Peter;
- Markova, Tatiana;
- Orlova, Maria;
- Osipova, Darya;
- Nagornova, Tatyana;
- Semenova, Natalia;
- Levchenko, Olga;
- Filatova, Alexandra;
- Sharova, Margarita;
- Vasiluev, Peter;
- Kanivets, Ilya;
- Pyankov, Denis;
- Sharkov, Artem
Publication type:
Article
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6580561
By:
- Backlund, Michael P.;
- Repo, Pauliina;
- Kangas, Harri;
- Donner, Kati;
- Sankila, Eeva-Marja;
- Krootila, Julia;
- Paavo, Maarjaliis;
- Wartiovaara, Kirmo;
- Kivelä, Tero T.;
- Turunen, Joni A.
Publication type:
Article
Functional Analysis of 3′UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9964734
By:
- Sanguino Otero, Javier;
- Rodríguez-Jiménez, Carmen;
- Mostaza Prieto, Jose;
- Rodríguez-Antolín, Carlos;
- Carazo Alvarez, Ana;
- Arrieta Blanco, Francisco;
- Rodríguez-Nóvoa, Sonia
Publication type:
Article
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.
Published in:
Human Mutation, 2024, p. 1, doi. 10.1155/2024/6619280
By:
- Replogle, Maria R.;
- Thompson, Samuel;
- Reis, Linda M.;
- Semina, Elena V.
Publication type:
Article
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
Published in:
Human Mutation, 2024, p. 1, doi. 10.1155/2024/5518289
By:
- Susgun, Seda;
- Ben-Mahmoud, Afif;
- Rüschendorf, Franz;
- Ku, Bonsu;
- Hussain, Syeda Iqra;
- Schulz, Solveig;
- Puk, Oliver;
- Biskup, Saskia;
- Labonne, Jonathan D. J.;
- Don, Dilan Wellalage;
- Gupta, Vijay;
- Choi, Tae-Ik;
- Khan, Saadullah;
- Wasif, Naveed;
- Lacassie, Yves;
- Layman, Lawrence C.;
- Ugur Iseri, Sibel Aylin;
- Kim, Cheol-Hee;
- Kim, Hyung-Goo
Publication type:
Article
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.
Published in:
Human Mutation, 2024, p. 1, doi. 10.1155/2024/4450082
By:
- Dudakova, Lubica;
- Noskova, Lenka;
- Kmoch, Stanislav;
- Filipec, Martin;
- Filous, Ales;
- Davidson, Alice E.;
- Toulis, Vasileios;
- Jedlickova, Jana;
- Skalicka, Pavlina;
- Hartmannova, Hana;
- Stranecky, Viktor;
- Drabova, Jana;
- Novotna, Drahuse;
- Havlovicova, Marketa;
- Sedlacek, Zdenek;
- Liskova, Petra
Publication type:
Article