Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 10

Results: 16

Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1362, doi. 10.1002/humu.24268

By:

Gupta, Sounak;
Shen, Wei;
Jimenez, Rafael E.;
Cheville, John C.

Publication type:

Article

Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1279, doi. 10.1002/humu.24265

By:

Abou Ziki, Maen D.;
Bhat, Neha;
Neogi, Arpita;
Driscoll, Tristan P.;
Ugwu, Nelson;
Liu, Ya;
Smith, Emily;
Abboud, Johny M.;
Chouairi, Salah;
Schwartz, Martin A.;
Akar, Joseph G.;
Mani, Arya

Publication type:

Article

An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1351, doi. 10.1002/humu.24264

By:

Fortuno, Cristina;
Pesaran, Tina;
Dolinsky, Jill;
Yussuf, Amal;
McGoldrick, Kelly;
Tavtigian, Sean V.;
Goldgar, David;
Spurdle, Amanda B.;
James, Paul A.

Publication type:

Article

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1336, doi. 10.1002/humu.24263

By:

Deshpande, Dipti;
Gupta, Shailesh Kumar;
Sarma, Asodu Sandeep;
Ranganath, Prajnya;
Jain S., Jamal Md Nurul;
Sheth, Jayesh;
Mistri, Mehul;
Gupta, Neerja;
Kabra, Madhulika;
Phadke, Shubha R.;
Girisha, Katta M.;
Dua Puri, Ratna;
Aggarwal, Shagun;
Datar, Chaitanya;
Mandal, Kausik;
Tilak, Preetha;
Muranjan, Mamta;
Bijarnia‐Mahay, Sunita;
Rama Devi A., Radha;
Tayade, Naresh B.

Publication type:

Article

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1187, doi. 10.1002/humu.24261

By:

Perez‐Becerril, Cristina;
Evans, D. Gareth;
Smith, Miriam J.

Publication type:

Article

Variants of human CLDN9 cause mild to profound hearing loss.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1321, doi. 10.1002/humu.24260

By:

Ramzan, Memoona;
Philippe, Christophe;
Belyantseva, Inna A.;
Nakano, Yoko;
Fenollar‐Ferrer, Cristina;
Tona, Risa;
Yousaf, Rizwan;
Basheer, Rasheeda;
Imtiaz, Ayesha;
Faridi, Rabia;
Munir, Zunaira;
Idrees, Hafiza;
Salman, Midhat;
Nambot, Sophie;
Vitobello, Antonio;
Kartti, Souad;
Zarrik, Oumaima;
Witmer, P. Dane;
Sobreria, Nara;
Ibrahimi, Azeddine

Publication type:

Article

YMrCA: Improving Y‐chromosomal ancestor time estimation for DNA kinship research.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1307, doi. 10.1002/humu.24259

By:

Claerhout, Sofie;
Vanpaemel, Simon;
Gill, Mandev S.;
Antiga, Laura G.;
Baele, Guy;
Decorte, Ronny

Publication type:

Article

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1294, doi. 10.1002/humu.24258

By:

Colman, Marlies;
Syx, Delfien;
De Wandele, Inge;
Dhooge, Tibbe;
Symoens, Sofie;
Malfait, Fransiska

Publication type:

Article

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1239, doi. 10.1002/humu.24257

By:

Loftus, Stacie K.;
Lundh, Linnea;
Watkins‐Chow, Dawn E.;
Baxter, Laura L.;
Pairo‐Castineira, Erola;
NISC Comparative Sequencing Program;
Jackson, Ian J.;
Oetting, William S.;
Pavan, William J.;
Adams, David R.

Publication type:

Article

Case–case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1265, doi. 10.1002/humu.24256

By:

Johnatty, Sharon E.;
Pesaran, Tina;
Dolinsky, Jill;
Yussuf, Amal;
LaDuca, Holly;
James, Paul A.;
O'Mara, Tracy A.;
Spurdle, Amanda B.

Publication type:

Article

The prevalence of HLA‐I LOH in Chinese pan‐cancer patients and genomic features of patients harboring HLA‐I LOH.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1254, doi. 10.1002/humu.24255

By:

Zhao, Jian;
Xiao, Xiaoxiong;
Li, Yue;
Gao, Xuan;
Zhang, Xiuqin;
Liu, Zeyi;
Yi, Yuting;
Fu, Xiaorui;
Wang, Han;
Guan, Yanfang;
Xia, Xuefeng;
Zhang, Weixing;
Huang, Jian'an

Publication type:

Article

Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1229, doi. 10.1002/humu.24253

By:

Tran, Ngoc Hieu;
Nguyen Thi, Thanh‐Huong;
Tang, Hung‐Sang;
Hoang, Le‐Phuc;
Nguyen, Trung‐Hieu Le;
Tran, Nhat‐Thang;
Trinh, Thu‐Huong Nhat;
Nguyen, Van Thong;
Nguyen, Bao‐Han Huu;
Nguyen, Hieu Trong;
Doan, Loc Phuoc;
Phan, Ngoc‐Minh;
Nguyen, Kim‐Huong Thi;
Nguyen, Hong‐Dang Luu;
Quach, Minh‐Tam Thi;
Nguyen, Thanh‐Phuong Thi;
Tran, Vu Uyen;
Tran, Dinh‐Vinh;
Nguyen, Quynh‐Tho Thi;
Do, Thanh‐Thuy Thi

Publication type:

Article

Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1215, doi. 10.1002/humu.24252

By:

Marcé‐Grau, Anna;
Elorza‐Vidal, Xabier;
Pérez‐Rius, Carla;
Ruiz‐Nel·lo, Anna;
Sala‐Coromina, Júlia;
Gabau, Elisabet;
Estévez, Raúl;
Macaya, Alfons

Publication type:

Article

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1221, doi. 10.1002/humu.24251

By:

Olinger, Eric;
Alawi, Intisar Al;
Al Riyami, Mohammed S.;
Salmi, Isa Al;
Molinari, Elisa;
Faqeih, Eissa Ali;
Al‐Hamed, Mohamed H.;
Barroso‐Gil, Miguel;
Powell, Laura;
Al‐Hussaini, Abdulrahman A.;
Rahim, Khawla A.;
Almontashiri, Naif A. M.;
Miles, Colin;
Shril, Shirlee;
Hildebrandt, Friedhelm;
Consortium, Genomics England Research;
Wilson, Ian J.;
Sayer, John A.

Publication type:

Article

A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B‐AS1.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1208, doi. 10.1002/humu.24244

By:

Ali, Mourad Wagdy;
Patro, C. Pawan K.;
Devall, Matthew;
Dampier, Christopher H.;
Plummer, Sarah J.;
Kuscu, Cem;
Adli, Mazhar;
Lai, Rose K.;
Casey, Graham

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 10, p. 1185, doi. 10.1002/humu.24047
Publication type:: Article