Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 7

Results: 17

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 865, doi. 10.1002/humu.23772

By:

Bosio, Mattia;
Drechsel, Oliver;
Rahman, Rubayte;
Muyas, Francesc;
Rabionet, Raquel;
Bezdan, Daniela;
Domenech Salgado, Laura;
Hor, Hyun;
Schott, Jean‐Jacques;
Munell, Francina;
Colobran, Roger;
Macaya, Alfons;
Estivill, Xavier;
Ossowski, Stephan

Publication type:

Article

Heterozygosity mapping for human dominant trait variants.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 996, doi. 10.1002/humu.23765

By:

Imai‐Okazaki, Atsuko;
Li, Yi;
Horpaopan, Sukanya;
Riazalhosseini, Yasser;
Garshasbi, Masoud;
Mosse, Yael P.;
Zhang, Di;
Schrauwen, Isabelle;
Sharma, Aarushi;
Fann, Cathy S. J.;
Leal, Suzanne M.;
Lathrop, Mark;
Ott, Jurg

Publication type:

Article

Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 938, doi. 10.1002/humu.23764

By:

Himmelreich, Nastassja;
Dimitrov, Bianca;
Geiger, Virginia;
Zielonka, Matthias;
Hutter, Anna‐Marlen;
Beedgen, Lars;
Hüllen, Andreas;
Breuer, Maximilian;
Peters, Verena;
Thiemann, Kai‐Christian;
Hoffmann, Georg F.;
Sinning, Irmgard;
Dupré, Thierry;
Vuillaumier‐Barrot, Sandrine;
Barrey, Catherine;
Denecke, Jonas;
Kölfen, Wolfgang;
Düker, Gesche;
Ganschow, Rainer;
Lentze, Michael J.

Publication type:

Article

A snapshot of some pLI score pitfalls.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 839, doi. 10.1002/humu.23763

By:

Ziegler, Alban;
Colin, Estelle;
Goudenège, David;
Bonneau, Dominique

Publication type:

Article

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi‐Bickel syndrome and metabolic traits.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 983, doi. 10.1002/humu.23758

By:

Enogieru, Osatohanmwen J.;
Ung, Peter M. U.;
Yee, Sook Wah;
Schlessinger, Avner;
Giacomini, Kathleen M.

Publication type:

Article

PMS2 expression decrease causes severe problems in mismatch repair.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 904, doi. 10.1002/humu.23756

By:

Kasela, Mariann;
Nyström, Minna;
Kansikas, Minttu

Publication type:

Article

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 962, doi. 10.1002/humu.23745

By:

Bachmann, Christoph;
Noreen, Faiza;
Voermans, Nicol C.;
Schär, Primo L.;
Vissing, John;
Fock, Johanna M.;
Bulk, Saskia;
Kusters, Benno;
Moore, Steven A.;
Beggs, Alan H.;
Mathews, Katherine D.;
Meyer, Megan;
Genetti, Casie A.;
Meola, Giovanni;
Cardani, Rosanna;
Mathews, Emma;
Jungbluth, Heinz;
Muntoni, Francesco;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 926, doi. 10.1002/humu.23754

By:

Giacché, Mara;
Panarotto, Alessandra;
Tacchetti, Maria Chiara;
Tosini, Rossella;
Campana, Federica;
Mori, Luigi;
Cappelli, Carlo;
Pirola, Ilenia;
Lombardi, Davide;
Pezzola, Diego Cesare;
Casella, Claudio;
Castellano, Maurizio

Publication type:

Article

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 893, doi. 10.1002/humu.23753

By:

Lake, Nicole J.;
Formosa, Luke E.;
Stroud, David A.;
Ryan, Michael T.;
Calvo, Sarah E.;
Mootha, Vamsi K.;
Morar, Bharti;
Procopis, Peter G;
Christodoulou, John;
Compton, Alison G.;
Thorburn, David R.

Publication type:

Article

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 975, doi. 10.1002/humu.23751

By:

Pop, Ana;
Struys, Eduard A.;
Jansen, Erwin E. W.;
Fernandez, Matilde R.;
Kanhai, Warsha A.;
Dooren, Silvy J. M.;
Ozturk, Senay;
Oostendorp, Justin;
Lennertz, Pascal;
Kranendijk, Martijn;
Knaap, Marjo S.;
Gibson, K. Michael;
Schaftingen, Emile;
Salomons, Gajja S.

Publication type:

Article

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 842, doi. 10.1002/humu.23748

By:

Velho, Renata Voltolini;
Harms, Frederike L.;
Danyukova, Tatyana;
Ludwig, Nataniel F.;
Friez, Michael J.;
Cathey, Sara S.;
Filocamo, Mirella;
Tappino, Barbara;
Güneş, Nilay;
Tüysüz, Beyhan;
Tylee, Karen L.;
Brammeier, Kathryn L.;
Heptinstall, Lesley;
Oussoren, Esmee;
Ploeg, Ans T.;
Petersen, Christine;
Alves, Sandra;
Saavedra, Gloria Durán;
Schwartz, Ida V.;
Muschol, Nicole

Publication type:

Article

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 899, doi. 10.1002/humu.23755

By:

Zakaria, Muhammad;
Fatima, Ambrin;
Klar, Joakim;
Wikström, Johan;
Abdullah, Uzma;
Ali, Zafar;
Akram, Talia;
Tariq, Muhammad;
Ahmad, Habib;
Schuster, Jens;
Baig, Shahid M;
Dahl, Niklas

Publication type:

Article

TP63‐truncating variants cause isolated premature ovarian insufficiency.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 886, doi. 10.1002/humu.23744

By:

Tucker, Elena J.;
Jaillard, Sylvie;
Grover, Sonia R.;
Bergen, Jocelyn;
Robevska, Gorjana;
Bell, Katrina M;
Sadedin, Simon;
Hanna, Chloe;
Dulon, Jérôme;
Touraine, Philippe;
Sinclair, Andrew H.

Publication type:

Article

Identification of a p.Trp403* nonsense variant in PHEX causing X‐linked hypophosphatemia by inhibiting p38 MAPK signaling.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 879, doi. 10.1002/humu.23743

By:

Li, Wei;
Tan, Lingfang;
Li, Xin;
Zhang, Xiaoyu;
Wu, Xiaoyan;
Chen, Hongbo;
Hu, Lihua;
Wang, Xiaobei;
Luo, Xiaoping;
Wang, Fan;
Xu, Chengqi;
Chen, Qiuyun;
Jin, Runming;
Wang, Qing K.

Publication type:

Article

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731

By:

Ng, Bobby G.;
Sosicka, Paulina;
Agadi, Satish;
Almannai, Mohammed;
Bacino, Carlos A.;
Barone, Rita;
Botto, Lorenzo D.;
Burton, Jennifer E.;
Carlston, Colleen;
Chung, Brian Hon‐Yin;
Cohen, Julie S.;
Coman, David;
Dipple, Katrina M.;
Dorrani, Naghmeh;
Dobyns, William B.;
Elias, Abdallah F.;
Epstein, Leon;
Gahl, William A.;
Garozzo, Domenico;
Hammer, Trine Bjørg

Publication type:

Article

Screening for rare epigenetic variations in autism and schizophrenia.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 952, doi. 10.1002/humu.23740

By:

Garg, Paras;
Sharp, Andrew J.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 7, p. 835, doi. 10.1002/humu.23574
Publication type:: Article