Publications | Lund University Publications

11 – 20 of 21

show: 10
|
sort: year (new to old)

News feed Embed this list Save this search Mark all Export

Cancel

Embed this list

copy and paste the html snippet below into your own page:

<iframe src="https://lup.lub.lu.se/search/publication?embed=1&q=keywords+exact+%22Whole+exome+sequencing%22&amp;hide_pagination=1&amp;hide_info=1&amp;hide_options=1"
  width="100%"
  height="400"
  allowtransparency="true"
  frameborder="0">
</iframe>

2021
Mark Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Goodrich, J.K. ; Groop, Leif ^LU ; Nilsson, Peter M ^LU ; Tuomi, Tiinamaija ^LU and Udler, M.S. (2021) In Nature Communications 12(1).
- Contribution to journal › Article
2020
Mark Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Ng, Bobby G ; Eklund, Erik ^LU and Freeze, Hudson H. (2020) In Journal of Inherited Metabolic Disease 43(6). p.1333-1348
- Contribution to journal › Article
2019
Mark Consenting patients to genome sequencing
Niemiec, Emilia ^LU and Howard, Heidi Carmen ^LU (2019) p.31-55
- Chapter in Book/Report/Conference proceeding › Book chapter
Mark Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini, Camilla ; Laine, Isabelle ; Dallabona, Cristina ; Clemente, Paula ; Calvo-Garrido, Javier ; Wibom, Rolf ; Naess, Karin ; Barbaro, Michela ; Falk, Anna ^LU and Donnini, Claudia , et al. (2019) In Molecular Genetics & Genomic Medicine 7(6).
- Contribution to journal › Article
Mark Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia
Leinøe, Eva ; Gabrielaite, Migle ; Østrup, Olga ; Funding, Eva ; Greinacher, Andreas ; Ostrowski, Sisse R. ; Zetterberg, Eva ^LU and Rossing, Maria (2019) In British Journal of Haematology 186(2). p.373-376
- Contribution to journal › Letter
Mark Identification of targetable lesions in anaplastic thyroid cancer by genome profiling
Ravi, Naveen ^LU ; Yang, Minjun ^LU ; Gretarsson, Sigurdur ^LU ; Jansson, Caroline ^LU ; Mylona, Nektaria ; Sydow, Saskia R. ^LU ; Woodward, Eleanor L. ^LU ; Ekblad, Lars ^LU ; Wennerberg, Johan ^LU and Paulsson, Kajsa ^LU (2019) In Cancers 11(3).
- Contribution to journal › Article
2018
Mark Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers
Valind, Anders ^LU ; Wessman, Sandra ; Pal, Niklas ; Karlsson, Jenny ^LU ; Jonson, Tord ^LU ; Sandstedt, Bengt and Gisselsson, David ^LU (2018) In Pediatric Blood & Cancer 65(11).
- Contribution to journal › Article
Mark Readability of informed consent forms for whole-exome and whole-genome sequencing
Niemiec, Emilia ^LU ; Vears, Danya F. ; Borry, Pascal and Howard, Heidi Carmen ^LU (2018) In Journal of Community Genetics 9(2). p.143-151
- Contribution to journal › Article
2017
Mark A low-frequency inactivating AKT2 variant enriched in the finnish population is associated with fasting insulin levels and type 2 diabetes risk
Manning, Alisa ; Ladenvall, Claes ^LU ; Nilsson, Peter ^LU ; V. Varga, Tibor ^LU ; Franks, Paul ^LU ; Rosengren, Anders ^LU ; Melander, Olle ^LU ; Orho-Melander, Marju ^LU ; Kravic, Jasmina ^LU and Groop, Leif ^LU , et al. (2017) In Diabetes 66(7). p.2019-2032
- Contribution to journal › Article
2016
Mark Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies
Niemiec, Emilia ^LU ; Borry, Pascal ; Pinxten, Wim and Howard, Heidi Carmen ^LU (2016) In Human Mutation 37(12). p.1248-1256
- Contribution to journal › Article

your query:: Remove keywords: Whole exome sequencing