E-LIB Suche - Ergebnisse für: Hestand, Matthew

1

Deletion size analysis of 1680 22q11.2DS subjects identifie..:

Guo, Tingwei ; Diacou, Alexander ; Nomaru, Hiroko...
Human Molecular Genetics. 27 (2018) 7 - p. 1150-1163 , 2018

Link: https://doi.org/10.1093/..

2

Long‐read sequencing and optical genome mapping identify ca..:

Sund, Kristen L. ; Liu, Jie ; Lee, Joyce...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

3

Filaggrin loss-of-function variants are associated with ato..:

Virolainen, Samuel J. ; Satish, Latha ; Biagini, Jocelyn M....
JCI Insight. 9 (2024) 9 - p. , 2024

Link: https://doi.org/10.1172/..

4

Genetic contributors to risk of schizophrenia in the presen..:

Cleynen, Isabelle ; Engchuan, Worrawat ; Hestand, Matthew S....
Molecular Psychiatry. 26 (2020) 8 - p. 4496-4510 , 2020

Link: https://doi.org/10.1038/..

5

Extreme enrichment of VNTR-associated polymorphicity in hum..:

Linthorst, Jasper ; Meert, Wim ; Hestand, Matthew S....
Translational Psychiatry. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

6

Pathogenic variants in CDC45 on the remaining allele in pat..:

Unolt, Marta ; Kammoun, Molka ; Nowakowska, Beata...
Genetics in Medicine. 22 (2020) 2 - p. 326-335 , 2020

Link: https://doi.org/10.1038/..

7

Atypical chromosome 22q11.2 deletions are complex rearrange..:

Vervoort, Lisanne ; Demaerel, Wolfram ; Rengifo, Laura Y...
Human Molecular Genetics. 28 (2019) 22 - p. 3724-3733 , 2019

Link: https://doi.org/10.1093/..

8

Single-Molecule Sequencing: Towards Clinical Applications:

Ameur, Adam ; Kloosterman, Wigard P. ; Hestand, Matthew S.
Trends in Biotechnology. 37 (2019) 1 - p. 72-85 , 2019

Link: https://doi.org/10.1016/..

9

The Versatility of SMRT Sequencing:

Hestand, Matthew S. ; Ameur, Adam
Genes. 10 (2019) 1 - p. 24 , 2019

Link: https://doi.org/10.3390/..

10

The 22q11 low copy repeats are characterized by unprecedent..:

Demaerel, Wolfram ; Mostovoy, Yulia ; Yilmaz, Feyza...
Genome Research. 29 (2019) 9 - p. 1389-1401 , 2019

Link: https://doi.org/10.1101/..

11

Author Correction: Improved reference genome for the domest..:

Kalbfleisch, Theodore S. ; Rice, Edward S. ; DePriest Jr., Michael S....
Communications Biology. 2 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

12

Single molecule real-time (SMRT) sequencing comes of age: a..:

Ardui, Simon ; Ameur, Adam ; Vermeesch, Joris R.
Nucleic Acids Research. 46 (2018) 5 - p. 2159-2168 , 2018

Link: https://doi.org/10.1093/..

13

Clinical characteristics of patients with low functional IL..:

Frans, Glynis ; Van der Werff Ten Bosch, Jutte ; Moens, Leen...
Journal of Allergy and Clinical Immunology. 141 (2018) 2 - p. 768-770 , 2018

Link: https://doi.org/10.1016/..

14

Improved reference genome for the domestic horse increases ..:

Kalbfleisch, Theodore S. ; Rice, Edward S. ; DePriest Jr., Michael S....
Communications Biology. 1 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

15

Fetal fraction evaluation in non-invasive prenatal screenin..:

Hestand, Matthew S. ; Bessem, Mark ; van Rijn, Peter...
European Journal of Human Genetics. 27 (2018) 2 - p. 198-202 , 2018

Link: https://doi.org/10.1038/..