Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 11

Results: 16

Rapid genome sequencing for pediatrics.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1507, doi. 10.1002/humu.24466
By:
- Jezkova, Jana;
- Shaw, Sophie;
- Taverner, Nicola V.;
- Williams, Hywel J.
Publication type:
Article
Front Cover, Volume 43, Issue 11.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. i, doi. 10.1002/humu.24485
By:
- Scott, Stuart A.;
- Wang, Kai;
- Spinner, Nancy B.
Publication type:
Article
Human Mutation special issue on innovations in genomic diagnostics.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1493, doi. 10.1002/humu.24474
By:
- Scott, Stuart A.;
- Wang, Kai;
- Spinner, Nancy B.
Publication type:
Article
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1659, doi. 10.1002/humu.24467
By:
- Brand, Fabian;
- Vijayananth, Aswinkumar;
- Hsieh, Tzung‐Chien;
- Schmidt, Axel;
- Peters, Sophia;
- Mangold, Elisabeth;
- Cremer, Kirsten;
- Bender, Tim;
- Sivalingam, Sugirthan;
- Hundertmark, Hela;
- Knaus, Alexej;
- Engels, Hartmut;
- Krawitz, Peter M.;
- Perne, Claudia
Publication type:
Article
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1531, doi. 10.1002/humu.24465
By:
- Conlin, Laura K.;
- Aref‐Eshghi, Erfan;
- McEldrew, Deborah A.;
- Luo, Minjie;
- Rajagopalan, Ramakrishnan
Publication type:
Article
A survey of current methods to detect and genotype inversions.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1576, doi. 10.1002/humu.24458
By:
- Hanlon, Vincent C. T.;
- Lansdorp, Peter M.;
- Guryev, Victor
Publication type:
Article
Long‐read HiFi sequencing of NUDT15: Phased full‐gene haplotyping and pharmacogenomic allele discovery.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1557, doi. 10.1002/humu.24457
By:
- Scott, Erick R.;
- Yang, Yao;
- Botton, Mariana R.;
- Seki, Yoshinori;
- Hoshitsuki, Keito;
- Harting, John;
- Baybayan, Primo;
- Cody, Neal;
- Nicoletti, Paola;
- Moriyama, Takaya;
- Chakraborty, Shreyasee;
- Yang, Jun J.;
- Edelmann, Lisa;
- Schadt, Eric E.;
- Korlach, Jonas;
- Scott, Stuart A.
Publication type:
Article
Clinical whole‐genome sequencing in cancer diagnosis.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1519, doi. 10.1002/humu.24381
By:
- Hou, Ying‐Chen C.;
- Neidich, Julie A.;
- Duncavage, Eric J.;
- Spencer, David H.;
- Schroeder, Molly C.
Publication type:
Article
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1545, doi. 10.1002/humu.24450
By:
- Holt, Giles S.;
- Batty, Lois E.;
- Alobaidi, Bilal K. S.;
- Smith, Hannah E.;
- Oud, Manon S.;
- Ramos, Liliana;
- Xavier, Miguel J.;
- Veltman, Joris A.
Publication type:
Article
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1567, doi. 10.1002/humu.24440
By:
- Eisfeldt, Jesper;
- Rezayee, Fatemah;
- Pettersson, Maria;
- Lagerstedt, Kristina;
- Malmgren, Helena;
- Falk, Anna;
- Grigelioniene, Giedre;
- Lindstrand, Anna
Publication type:
Article
Better and faster is cheaper.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1495, doi. 10.1002/humu.24422
By:
- Sanford Kobayashi, Erica F.;
- Dimmock, David P.
Publication type:
Article
Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1590, doi. 10.1002/humu.24394
By:
- Postel, Mackenzie D.;
- Culver, Julie O.;
- Ricker, Charité;
- Craig, David W.
Publication type:
Article
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1642, doi. 10.1002/humu.24389
By:
- Lewis‐Smith, David;
- Parthasarathy, Shridhar;
- Xian, Julie;
- Kaufman, Michael C.;
- Ganesan, Shiva;
- Galer, Peter D.;
- Thomas, Rhys H.;
- Helbig, Ingo
Publication type:
Article
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1609, doi. 10.1002/humu.24446
By:
- Levy, Michael A.;
- Relator, Raissa;
- McConkey, Haley;
- Pranckeviciene, Erinija;
- Kerkhof, Jennifer;
- Barat‐Houari, Mouna;
- Bargiacchi, Sara;
- Biamino, Elisa;
- Palomares Bralo, María;
- Cappuccio, Gerarda;
- Ciolfi, Andrea;
- Clarke, Angus;
- DuPont, Barbara R.;
- Elting, Mariet W.;
- Faivre, Laurence;
- Fee, Timothy;
- Ferilli, Marco;
- Fletcher, Robin S.;
- Cherick, Florian;
- Foroutan, Aidin
Publication type:
Article
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1629, doi. 10.1002/humu.24379
By:
- Chen, Steven X.;
- Simpson, Ed;
- Reiter, Jill L.;
- Liu, Yunlong
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2022, v. 43, n. 11, p. 1491, doi. 10.1002/humu.24233
Publication type:
Article