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

Results: 16

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

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

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

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

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

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

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

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