Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 12

Results: 54

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2328, doi. 10.1002/humu.24500
By:
- Canson, Daffodil;
- Glubb, Dylan;
- Spurdle, Amanda B.
Publication type:
Article
KBTBD13 is a novel cardiomyopathy gene.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1860, doi. 10.1002/humu.24499
By:
- de Winter, Josine M.;
- Bouman, Karlijn;
- Strom, Joshua;
- Methawasin, Mei;
- Jongbloed, Jan D. H.;
- van der Roest, Wilma;
- Wijngaarden, Jan van;
- Timmermans, Janneke;
- Nijveldt, Robin;
- van den Heuvel, Frederik;
- Kamsteeg, Erik‐Jan;
- van Engelen, Baziel G.;
- Galli, Ricardo;
- Bogaards, Sylvia J. P.;
- Boon, Reinier A.;
- van der Pijl, Robbert J.;
- Granzier, Henk;
- Koeleman, Bobby;
- Amin, Ahmad S.;
- van der Velden, Jolanda
Publication type:
Article
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.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1872, doi. 10.1002/humu.24498
By:
- Szeri, Flora;
- Miko, Agnes;
- Navasiolava, Nastassia;
- Kaposi, Ambrus;
- Verschuere, Shana;
- Molnar, Beatrix;
- Li, Qiaoli;
- Terry, Sharon F.;
- Boraldi, Federica;
- Uitto, Jouni;
- van de Wetering, Koen;
- Martin, Ludovic;
- Quaglino, Daniela;
- Vanakker, Olivier M.;
- Tory, Kalman;
- Aranyi, Tamas
Publication type:
Article
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1816, doi. 10.1002/humu.24497
By:
- Dai, Hongzheng;
- Zhu, Wenmiao;
- Yuan, Bo;
- Walley, Nicole;
- Schoch, Kelly;
- Jiang, Yong‐Hui;
- Phillips, John A.;
- Jones, Melissa S.;
- Liu, Pengfei;
- Murdock, David R.;
- Burrage, Lindsay C.;
- Lee, Brendan;
- Rosenfeld, Jill A.;
- Xiao, Rui
Publication type:
Article
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Published in:
2022
By:
- Peter, Virginie G.;
- Quinodoz, Mathieu;
- Sadio, Silvia;
- Held, Sebastian;
- Rodrigues, Márcia;
- Soares, Marta;
- Sousa, Ana Berta;
- Santos, Luisa Coutinho;
- Damme, Markus;
- Rivolta, Carlo
Publication type:
Correction Notice
VariantAlert: A web‐based tool to notify updates in genetic variant annotations.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1808, doi. 10.1002/humu.24495
By:
- Atzeni, Rossano;
- Massidda, Matteo;
- Fotia, Giorgio;
- Uva, Paolo
Publication type:
Article
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu‐mediated copy number variations at the PRPF31 locus.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2279, doi. 10.1002/humu.24494
By:
- Chen, Zhixuan;
- Chen, Jieqiong;
- Gao, Min;
- Liu, Yang;
- Wu, Yidong;
- Wang, Yafang;
- Gong, Yuanyuan;
- Yu, Suqin;
- Liu, Wenjia;
- Wan, Xiaoling;
- Sun, Xiaodong
Publication type:
Article
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2205, doi. 10.1002/humu.24493
By:
- Eboreime, Jordan;
- Choi, Soo‐Kyung;
- Yoon, Song‐Ro;
- Sadybekov, Anastasiia;
- Katritch, Vsevolod;
- Calabrese, Peter;
- Arnheim, Norman
Publication type:
Article
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1780, doi. 10.1002/humu.24486
By:
- Margraf, Rebecca L.;
- Alexander, Rachel Z.;
- Fulmer, Makenzie L.;
- Miller, Christine E.;
- Coupal, Elena;
- Mao, Rong
Publication type:
Article
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492
By:
- Suga, Akiko;
- Yoshitake, Kazutoshi;
- Minematsu, Naoko;
- Tsunoda, Kazushige;
- Fujinami, Kaoru;
- Miyake, Yozo;
- Kuniyoshi, Kazuki;
- Hayashi, Takaaki;
- Mizobuchi, Kei;
- Ueno, Shinji;
- Terasaki, Hiroko;
- Kominami, Taro;
- Nao‐I, Nobuhisa;
- Mawatari, Go;
- Mizota, Atsushi;
- Shinoda, Kei;
- Kondo, Mineo;
- Kato, Kumiko;
- Sekiryu, Tetsuju;
- Nakamura, Makoto
Publication type:
Article
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1757, doi. 10.1002/humu.24490
By:
- Abid, Aiysha;
- Raza, Ali;
- Aziz, Tahir;
- Khaliq, Shagufta
Publication type:
Article
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2234, doi. 10.1002/humu.24489
By:
- Hitti‐Malin, Rebekkah J.;
- Dhaenens, Claire‐Marie;
- Panneman, Daan M.;
- Corradi, Zelia;
- Khan, Mubeen;
- den Hollander, Anneke I.;
- Farrar, G. Jane;
- Gilissen, Christian;
- Hoischen, Alexander;
- van de Vorst, Maartje;
- Bults, Femke;
- Boonen, Erica G. M.;
- Saunders, Patrick;
- Roosing, Susanne;
- Cremers, Frans P. M.
Publication type:
Article
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2222, doi. 10.1002/humu.24488
By:
- Lanzafame, Manuela;
- Nardo, Tiziana;
- Ricotti, Roberta;
- Pantaleoni, Chiara;
- D'Arrigo, Stefano;
- Stanzial, Franco;
- Benedicenti, Francesco;
- Thomas, Mary A.;
- Stefanini, Miria;
- Orioli, Donata;
- Botta, Elena
Publication type:
Article
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2130, doi. 10.1002/humu.24487
By:
- Douben, Hannie C. W.;
- Nellist, Mark;
- van Unen, Leontine;
- Elfferich, Peter;
- Kasteleijn, Esmee;
- Hoogeveen‐Westerveld, Marianne;
- Louwen, Jesse;
- van Veghel‐Plandsoen, Monique;
- de Valk, Walter;
- Saris, Jasper J.;
- Hendriks, Femke;
- Korpershoek, Esther;
- Hoefsloot, Lies H.;
- van Vliet, Margreethe;
- van Bever, Yolande;
- van de Laar, Ingrid;
- Aten, Emmelien;
- Lachmeijer, Augusta M. A.;
- Taal, Walter;
- van den Bersselaar, Lisa
Publication type:
Article
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2308, doi. 10.1002/humu.24491
By:
- Leman, Raphaël;
- Parfait, Béatrice;
- Vidaud, Dominique;
- Girodon, Emmanuelle;
- Pacot, Laurence;
- Le Gac, Gérald;
- Ka, Chandran;
- Ferec, Claude;
- Fichou, Yann;
- Quesnelle, Céline;
- Aucouturier, Camille;
- Muller, Etienne;
- Vaur, Dominique;
- Castera, Laurent;
- Boulouard, Flavie;
- Ricou, Agathe;
- Tubeuf, Hélène;
- Soukarieh, Omar;
- Gaildrat, Pascaline;
- Riant, Florence
Publication type:
Article
Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependencies.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2187, doi. 10.1002/humu.24484
By:
- Lan, Yujia;
- Liu, Wei;
- Hou, Xiaobo;
- Wang, Shuai;
- Wang, Hao;
- Deng, Menglan;
- Wang, Guiyu;
- Ping, Yanyan;
- Zhang, Xinxin
Publication type:
Article
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2141, doi. 10.1002/humu.24483
By:
- Chen, Ze‐Xu;
- Jia, Wan‐Nan;
- Sun, Yang;
- Chen, Tian‐Hui;
- Zhao, Zhen‐Nan;
- Lan, Li‐Na;
- Liu, Yan;
- Song, Ling‐Hao;
- Jiang, Yong‐Xiang
Publication type:
Article
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2170, doi. 10.1002/humu.24482
By:
- Burdon, Kathryn P.;
- Graham, Patricia;
- Hadler, Johanna;
- Hulleman, John D.;
- Pasutto, Francesca;
- Boese, Erin A.;
- Craig, Jamie E.;
- Fingert, John H.;
- Hewitt, Alex W.;
- Siggs, Owen M.;
- Whisenhunt, Kristina;
- Young, Terri L.;
- Mackey, David A.;
- Dubowsky, Andrew;
- Souzeau, Emmanuelle
Publication type:
Article
MicroRNA binding site variation is enriched in psychiatric disorders.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2153, doi. 10.1002/humu.24481
By:
- Geaghan, Michael P.;
- Reay, William R.;
- Cairns, Murray J.
Publication type:
Article
Biallelic loss‐of‐function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2079, doi. 10.1002/humu.24475
By:
- Wang, Guanxiong;
- Zhu, Xiaoyu;
- Gao, Yang;
- Lv, Mingrong;
- Li, Kuokuo;
- Tang, Dongdong;
- Wu, Huan;
- Xu, Chuan;
- Geng, Hao;
- Shen, Qunshan;
- Zha, Xiaomin;
- Duan, Zongliu;
- Zhang, Jingjing;
- Hua, Rong;
- Tao, Fangbiao;
- Zhou, Ping;
- Wei, Zhaolian;
- Cao, Yunxia;
- Guo, Rui;
- He, Xiaojin
Publication type:
Article
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2265, doi. 10.1002/humu.24479
By:
- Pavlova, Elena V.;
- Lev, Dorit;
- Michelson, Marina;
- Yosovich, Keren;
- Michaeli, Hila Gur;
- Bright, Nicholas A.;
- Manna, Paul T.;
- Dickson, Veronica Kane;
- Tylee, Karen L.;
- Church, Heather J.;
- Luzio, J. Paul;
- Cox, Timothy M.
Publication type:
Article
Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2116, doi. 10.1002/humu.24478
By:
- Simsek‐Kiper, Pelin Ozlem;
- Jacob, Prince;
- Upadhyai, Priyanka;
- Taşkıran, Zihni Ekim;
- Guleria, Vishal S.;
- Karaosmanoglu, Beren;
- Imren, Gozde;
- Gocmen, Rahsan;
- Bhavani, Gandham S.;
- Kausthubham, Neethukrishna;
- Shah, Hitesh;
- Utine, Gulen Eda;
- Boduroglu, Koray;
- Girisha, Katta M.
Publication type:
Article
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1673, doi. 10.1002/humu.24477
By:
- Mercurio, Stephanie A.;
- Chunn, Lauren M.;
- Khursigara, Gus;
- Nester, Catherine;
- Wray, Kathleen;
- Botschen, Ulrike;
- Kiel, Mark J.;
- Rutsch, Frank;
- Ferreira, Carlos R.
Publication type:
Article
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2091, doi. 10.1002/humu.24476
By:
- Sutton, Rachel M.;
- Bittar, Humberto Trejo;
- Sullivan, Daniel I.;
- Silva, Agustin Gil;
- Bahudhanapati, Harinath;
- Parikh, Anishka H.;
- Zhang, Yingze;
- Gibson, Kevin;
- McDyer, John F.;
- Kass, Daniel J.;
- Alder, Jonathan K.
Publication type:
Article
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. e24, doi. 10.1002/humu.24480
By:
- Al‐Hamed, Mohamed H.;
- Hussein, Maged H.;
- Shah, Yaser;
- Al‐Mojalli, Hamad;
- Alsabban, Essam;
- Alshareef, Turki;
- Altayyar, Ali;
- Elshouny, Samir;
- Ali, Wafaa;
- Abduljabbar, Mai;
- AlOtaibi, Afaf;
- AlShammasi, Amal;
- Akili, Rana;
- Abouelhoda, Mohamed;
- Sayer, John A.;
- Dasouki, Majed J.;
- Imtiaz, Faiqa
Publication type:
Article
Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2102, doi. 10.1002/humu.24473
By:
- Zhang, Yuying;
- Li, Jian;
- Ji, Yaoting;
- Cheng, Yibin;
- Fu, Xiazhou
Publication type:
Article
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1866, doi. 10.1002/humu.24472
By:
- Treimer, Ernestine;
- Kalayci, Tugba;
- Schumann, Sven;
- Suer, Ilknur;
- Greco, Sara;
- Schanze, Denny;
- Schmeisser, Michael J.;
- Kühl, Susanne J.;
- Zenker, Martin
Publication type:
Article
Destabilization of mutated human PUS3 protein causes intellectual disability.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2063, doi. 10.1002/humu.24471
By:
- Lin, Ting‐Yu;
- Smigiel, Robert;
- Kuzniewska, Bozena;
- Chmielewska, Joanna J.;
- Kosińska, Joanna;
- Biela, Mateusz;
- Biela, Anna;
- Kościelniak, Anna;
- Dobosz, Dominika;
- Laczmanska, Izabela;
- Chramiec‐Głąbik, Andrzej;
- Jeżowski, Jakub;
- Nowak, Jakub;
- Gos, Monika;
- Rzonca‐Niewczas, Sylwia;
- Dziembowska, Magdalena;
- Ploski, Rafał;
- Glatt, Sebastian
Publication type:
Article
Mutation update for the ACTN2 gene.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1745, doi. 10.1002/humu.24470
By:
- Ranta‐aho, Johanna;
- Olive, Montse;
- Vandroux, Marie;
- Roticiani, Giorgia;
- Dominguez, Cristina;
- Johari, Mridul;
- Torella, Annalaura;
- Böhm, Johann;
- Turon, Janina;
- Nigro, Vincenzo;
- Hackman, Peter;
- Laporte, Jocelyn;
- Udd, Bjarne;
- Savarese, Marco
Publication type:
Article
Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1856, doi. 10.1002/humu.24469
By:
- Savage, Sharon A.;
- Jones, Kristine;
- Teshome, Kedest;
- Lori, Adriana;
- McReynolds, Lisa J.;
- Niewisch, Marena R.
Publication type:
Article
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2054, doi. 10.1002/humu.24468
By:
- Davidson, Aimee L.;
- Kondrashova, Olga;
- Leonard, Conrad;
- Wood, Scott;
- Tudini, Emma;
- Hollway, Georgina E.;
- Pearson, John V.;
- Newell, Felicity;
- Spurdle, Amanda B.;
- Waddell, Nicola
Publication type:
Article
Cancer‐causing MAP2K1 mutation in a mosaic patient with cardio‐facio‐cutaneous syndrome and immunodeficiency.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1852, doi. 10.1002/humu.24463
By:
- Zakharova, Victorya;
- Raykina, Elena;
- Mersiyanova, Irina;
- Deordieva, Ekaterina;
- Pershin, Dmitry;
- Vedmedskia, Victorya;
- Rodina, Yulia;
- Kuzmenko, Natalia;
- Maschan, Michael;
- Shcherbina, Anna
Publication type:
Article
A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2295, doi. 10.1002/humu.24462
By:
- Rath, Abhijit;
- Radecki, Alexander A.;
- Rahman, Kaussar;
- Gilmore, Rachel B.;
- Hudson, Jonathan R.;
- Cenci, Matthew;
- Tavtigian, Sean V.;
- Grady, James P.;
- Heinen, Christopher D.
Publication type:
Article
Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2033, doi. 10.1002/humu.24461
By:
- Chander, Varuna;
- Mahmoud, Medhat;
- Hu, Jianhong;
- Dardas, Zain;
- Grochowski, Christopher M.;
- Dawood, Moez;
- Khayat, Michael M.;
- Li, He;
- Li, Shoudong;
- Jhangiani, Shalini;
- Korchina, Viktoriya;
- Shen, Hua;
- Weissenberger, George;
- Meng, Qingchang;
- Gingras, Marie‐Claude;
- Muzny, Donna M.;
- Doddapaneni, Harsha;
- Posey, Jennifer E.;
- Lupski, James R.;
- Sabo, Aniko
Publication type:
Article
CIC missense variants contribute to susceptibility for spina bifida.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2021, doi. 10.1002/humu.24460
By:
- Han, Xiao;
- Cao, Xuanye;
- Aguiar‐Pulido, Vanessa;
- Yang, Wei;
- Karki, Menuka;
- Ramirez, Paula Andrea Pimienta;
- Cabrera, Robert M.;
- Lin, Ying Linda;
- Wlodarczyk, Bogdan J.;
- Shaw, Gary M.;
- Ross, M. Elizabeth;
- Zhang, Cuilian;
- Finnell, Richard H.;
- Lei, Yunping
Publication type:
Article
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2010, doi. 10.1002/humu.24459
By:
- Tosco‐Herrera, Eva;
- Muñoz‐Barrera, Adrián;
- Jáspez, David;
- Rubio‐Rodríguez, Luis A.;
- Mendoza‐Alvarez, Alejandro;
- Rodriguez‐Perez, Hector;
- Jou, Jonathan;
- Iñigo‐Campos, Antonio;
- Corrales, Almudena;
- Ciuffreda, Laura;
- Martinez‐Bugallo, Francisco;
- Prieto‐Morin, Carol;
- García‐Olivares, Víctor;
- González‐Montelongo, Rafaela;
- Lorenzo‐Salazar, Jose Miguel;
- Marcelino‐Rodriguez, Itahisa;
- Flores, Carlos
Publication type:
Article
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1994, doi. 10.1002/humu.24456
By:
- Colman, Marlies;
- Vroman, Robin;
- Dhooge, Tibbe;
- Malfait, Zoë;
- Symoens, Sofie;
- Burnyté, Biruté;
- Nampoothiri, Sheela;
- Kariminejad, Ariana;
- Malfait, Fransiska;
- Syx, Delfien
Publication type:
Article
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1909, doi. 10.1002/humu.24448
By:
- Tong, Xiaomei;
- Jin, Jiamin;
- Hu, Zhanhong;
- Zhang, Yingyi;
- Fan, Heng‐Yu;
- Zhang, Yin‐Li;
- Zhang, Songying
Publication type:
Article
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1898, doi. 10.1002/humu.24445
By:
- Jacquier, Arnaud;
- Ribault, Shams;
- Mendes, Michel;
- Lacoste, Nicolas;
- Risson, Valérie;
- Carras, Julien;
- Latour, Philippe;
- Nadaj‐Pakleza, Aleksandra;
- Stojkovic, Tanya;
- Schaeffer, Laurent
Publication type:
Article
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1979, doi. 10.1002/humu.24455
By:
- Ng, Jeffrey K.;
- Vats, Pankaj;
- Fritz‐Waters, Elyn;
- Sarkar, Stephanie;
- Sams, Eleanor I.;
- Padhi, Evin M.;
- Payne, Zachary L.;
- Leonard, Shawn;
- West, Marc A.;
- Prince, Chandler;
- Trani, Lee;
- Jansen, Marshall;
- Vacek, George;
- Samadi, Mehrzad;
- Harkins, Timothy T.;
- Pohl, Craig;
- Turner, Tychele N.
Publication type:
Article
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1945, doi. 10.1002/humu.24452
By:
- Woodard, DaNae R.;
- Daniel, Steffi;
- Nakahara, Emi;
- Abbas, Ali;
- DiCesare, Sophia M.;
- Collier, Gracen E.;
- Hulleman, John D.
Publication type:
Article
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1795, doi. 10.1002/humu.24451
By:
- Lieberwirth, Johann Kaspar;
- Büttner, Benjamin;
- Klöckner, Chiara;
- Platzer, Konrad;
- Popp, Bernt;
- Abou Jamra, Rami
Publication type:
Article
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1921, doi. 10.1002/humu.24449
By:
- Thomassen, Mads;
- Mesman, Romy L. S.;
- Hansen, Thomas V. O.;
- Menendez, Mireia;
- Rossing, Maria;
- Esteban‐Sánchez, Ada;
- Tudini, Emma;
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Human Mutation, 2022, v. 43, n. 12, p. 1956, doi. 10.1002/humu.24454
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Human Mutation, 2022, v. 43, n. 12, p. 1970, doi. 10.1002/humu.24453
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De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder.
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Human Mutation, 2022, v. 43, n. 12, p. 1844, doi. 10.1002/humu.24444
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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
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Human Mutation, 2022, v. 43, n. 12, p. 1837, doi. 10.1002/humu.24443
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Multiple mechanisms contribute to the phenotypic effects of synonymous variants.
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Human Mutation, 2022, v. 43, n. 12, p. 2324, doi. 10.1002/humu.24441
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Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
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Human Mutation, 2022, v. 43, n. 12, p. 1732, doi. 10.1002/humu.24439
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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
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Human Mutation, 2022, v. 43, n. 12, p. 1882, doi. 10.1002/humu.24438
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