Hestand, Matthew S : rechercher sur Z-Library

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1

Conventional and single-molecule targeted sequencing method for specific variant detection in IKBKG whilst bypassing the IKBKGP1 pseudogene

Frans, Glynis, Meert, Wim, Van der Werff Ten Bosch, Jutte, Meyts, Isabelle, Bossuyt, Xavier, Vermeesch, Joris R., Hestand, Matthew S.

Journal:

The Journal of Molecular Diagnostics

Année:

2017

Langue:

english

Fichier:

PDF, 523 KB

english, 2017

2

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

Ardui, Simon, Ameur, Adam, Vermeesch, Joris R, Hestand, Matthew S

Journal:

Nucleic Acids Research

Année:

2018

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2018

3

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.,

Journal:

The American Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 97 KB

english, 2018

4

CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes

Matthew S Hestand, Michiel van Galen, Michel P Villerius, Gert-Jan B van Ommen, Johan T den Dunnen, Peter AC 't Hoen

Journal:

BMC Bioinformatics

Année:

2008

Langue:

english

Fichier:

PDF, 797 KB

english, 2008

5

Canine COL4A3 and COL4A4 : Sequencing, mapping and genomic organization

Wiersma, Anje C., Millon, Lee V., Hestand, Matthew S., Van Oost, Bernard A., Bannasch, Danika L.

Journal:

DNA Sequence - The Journal of Sequencing and Mapping

Année:

2005

Langue:

english

Fichier:

PDF, 482 KB

english, 2005

6

GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments

Herten, Koen, Hestand, Matthew S, Vermeesch, Joris R, Van Houdt, Jeroen KJ

Journal:

BMC Bioinformatics

Année:

2015

Langue:

english

Fichier:

PDF, 434 KB

english, 2015

7

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

Mensah, Martin A., Hestand, Matthew S., Larmuseau, Maarten H. D., Isrie, Mala, Vanderheyden, Nancy, Declercq, Matthias, Souche, Erika L., Van Houdt, Jeroen, Stoeva, Radka, Van Esch, Hilde, Devriendt,

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2014

8

Polymerase specific error rates and profiles identified by single molecule sequencing

Hestand, Matthew S., Houdt, Jeroen Van, Cristofoli, Francesca, Vermeesch, Joris R.

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Année:

2016

Langue:

english

Fichier:

PDF, 640 KB

english, 2016

9

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

Masset, Heleen, Hestand, Matthew S., Van Esch, Hilde, Kleinfinger, Pascale, Plaisancié, Julie, Afenjar, Alexandra, Molignier, Romain, Schluth-Bolard, Caroline, Sanlaville, Damien, Vermeesch, Joris R.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2016

10

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis

Guo, Xingyi, Delio, Maria, Haque, Nousin, Castellanos, Raquel, Hestand, Matthew S., Vermeesch, Joris R., Morrow, Bernice E., Zheng, Deyou

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2016

11

A catalog of hemizygous variation in 127 22q11 deletion patients

Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, R

Journal:

Human Genome Variation

Année:

2016

Langue:

english

Fichier:

PDF, 2.01 MB

english, 2016

12

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

Ardui, Simon, Race, Valerie, Zablotskaya, Alena, Hestand, Matthew S., Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 783 KB

english, 2016

13

Clinical characteristics of patients with low functional IL-6 production upon TLR/IL-1R stimulation

Frans, Glynis, Van der Werff Ten Bosch, Jutte, Moens, Leen, Wuyts, Greet, Schaballie, Heidi, Tuerlinckx, David, De Bie, Mia, Vermeulen, Francois, Schrijvers, Rik, Meert, Wim, Hestand, Matthew S., Dela

Journal:

Journal of Allergy and Clinical Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 6.56 MB

english, 2017

14

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.,

Journal:

The American Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 649 KB

english, 2017

15

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

Guo, Tingwei, Diacou, Alexander, Nomaru, Hiroko, McDonald-McGinn, Donna M, Hestand, Matthew, Demaerel, Wolfram, Zhang, Liangtian, Zhao, Yingjie, Ujueta, Francisco, Shan, Jidong, Montagna, Cristina, Zh

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2018

16

Analysis of Unannotated Equine Transcripts Identified by mRNA Sequencing

Coleman, Stephen J., Zeng, Zheng, Hestand, Matthew S., Liu, Jinze, Macleod, James N., Ouzounis, Christos A.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 2.33 MB

english, 2013

17

Annotation of the Protein Coding Regions of the Equine Genome

Hestand, Matthew S., Kalbfleisch, Theodore S., Coleman, Stephen J., Zeng, Zheng, Liu, Jinze, Orlando, Ludovic, MacLeod, James N., Ouzounis, Christos A.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 2.39 MB

english, 2015

18

Comparison of the Equine Reference Sequence with Its Sanger Source Data and New Illumina Reads

Rebolledo-Mendez, Jovan, Hestand, Matthew S., Coleman, Stephen J., Zeng, Zheng, Orlando, Ludovic, MacLeod, James N., Kalbfleisch, Ted, te Pas, Marinus F.W.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2015

19

Single-Molecule Sequencing: Towards Clinical Applications

Ameur, Adam, Kloosterman, Wigard P., Hestand, Matthew S.

Journal:

Trends in Biotechnology

Année:

2018

Langue:

english

Fichier:

PDF, 2.10 MB

english, 2018

20

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

Hestand, Matthew S., Bessem, Mark, van Rijn, Peter, de Menezes, Renee X., Sie, Daoud, Bakker, Ingrid, Boon, Elles M. J., Sistermans, Erik A., Weiss, Marjan M.

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 789 KB

english, 2018

21

Improved reference genome for the domestic horse increases assembly contiguity and composition

Kalbfleisch, Theodore S., Rice, Edward S., DePriest, Michael S., Walenz, Brian P., Hestand, Matthew S., Vermeesch, Joris R., O′Connell, Brendan L., Fiddes, Ian T., Vershinina, Alisa O., Saremi, Nedda

Journal:

Communications Biology

Année:

2018

Langue:

english

Fichier:

PDF, 1.37 MB

english, 2018

22

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

Unolt, Marta, Kammoun, Molka, Nowakowska, Beata, Graham, Gail E., Crowley, T. Blaine, Hestand, Matthew S., Demaerel, Wolfram, Geremek, Maciej, Emanuel, Beverly S., Zackai, Elaine H., Vermeesch, Joris

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 731 KB

english, 2019

23

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Demaerel, Wolfram, Mostovoy, Yulia, Yilmaz, Feyza, Vervoort, Lisanne, Pastor, Steven, Hestand, Matthew S., Swillen, Ann, Vergaelen, Elfi, Geiger, Elizabeth A., Coughlin, Curtis R., Chow, Stephen K., M

Journal:

Genome Research

Année:

2019

Langue:

english

Fichier:

PDF, 6.20 MB

english, 2019

24

Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition

Kalbfleisch, Theodore S., Rice, Edward S., DePriest, Michael S., Walenz, Brian P., Hestand, Matthew S., Vermeesch, Joris R., O’Connell, Brendan L., Fiddes, Ian T., Vershinina, Alisa O., Saremi, Nedda

Journal:

Communications Biology

Année:

2019

Langue:

english

Fichier:

PDF, 308 KB

english, 2019

25

Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition

Kalbfleisch, Theodore S., Rice, Edward S., DePriest, Michael S., Walenz, Brian P., Hestand, Matthew S., Vermeesch, Joris R., O’Connell, Brendan L., Fiddes, Ian T., Vershinina, Alisa O., Saremi, Nedda

Journal:

Communications Biology

Année:

2019

Fichier:

PDF, 308 KB

2019

26

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins

Vervoort, Lisanne, Demaerel, Wolfram, Rengifo, Laura Y, Odrzywolski, Adrian, Vergaelen, Elfi, Hestand, Matthew S, Breckpot, Jeroen, Devriendt, Koen, Swillen, Ann, McDonald-McGinn, Donna M, Fiksinski,

Journal:

Human Molecular Genetics

Année:

2019

Fichier:

PDF, 91.94 MB

2019

27

Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain

Linthorst, Jasper, Meert, Wim, Hestand, Matthew S., Korlach, Jonas, Vermeesch, Joris Robert, Reinders, Marcel J. T., Holstege, Henne

Journal:

Translational Psychiatry

Année:

2020

Fichier:

PDF, 1.66 MB

2020