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Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63818
By:
- Sund, Kristen L.;
- Liu, Jie;
- Lee, Joyce;
- Garbe, John;
- Abdelhamed, Zakia;
- Maag, Chelsey;
- Hallinan, Barbara;
- Wu, Steven W.;
- Sperry, Ethan;
- Deshpande, Archana;
- Stottmann, Rolf;
- Smolarek, Teresa A.;
- Dyer, Lisa M.;
- Hestand, Matthew S.
Publication type:
Article
Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain.
Published in:
Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01060-5
By:
- Linthorst, Jasper;
- Meert, Wim;
- Hestand, Matthew S.;
- Korlach, Jonas;
- Vermeesch, Joris Robert;
- Reinders, Marcel J. T.;
- Holstege, Henne
Publication type:
Article
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
Published in:
Nucleic Acids Research, 2018, v. 46, n. 5, p. 2159, doi. 10.1093/nar/gky066
By:
- Ardui, Simon;
- Ameur, Adam;
- Vermeesch, Joris R;
- Hestand, Matthew S
Publication type:
Article
Genome-wide assessment of differential roles for p300 and CBP in transcription regulation.
Published in:
Nucleic Acids Research, 2010, v. 38, n. 16, p. 5396, doi. 10.1093/nar/gkq184
By:
- Ramos, Yolande F. M.;
- Hestand, Matthew S.;
- Verlaan, Matty;
- Krabbendam, Elise;
- Ariyurek, Yavuz;
- van Galen, Michiel;
- van Dam, Hans;
- van Ommen, Gert-Jan B.;
- den Dunnen, Johan T.;
- Zantema, Alt;
- ′t Hoen, Peter A. C.
Publication type:
Article
Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies.
Published in:
Nucleic Acids Research, 2010, v. 38, n. 16, p. e165, doi. 10.1093/nar/gkq602
By:
- Hestand, Matthew S.;
- Klingenhoff, Andreas;
- Scherf, Matthias;
- Ariyurek, Yavuz;
- Ramos, Yolande;
- van Workum, Wilbert;
- Suzuki, Makoto;
- Werner, Thomas;
- van Ommen, Gert-Jan B.;
- den Dunnen, Johan T.;
- Harbers, Matthias;
- 't Hoen, Peter A.C.
Publication type:
Article
Annotation of the Protein Coding Regions of the Equine Genome.
Published in:
PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0124375
By:
- Hestand, Matthew S.;
- Kalbfleisch, Theodore S.;
- Coleman, Stephen J.;
- Zeng, Zheng;
- Liu, Jinze;
- Orlando, Ludovic;
- MacLeod, James N.
Publication type:
Article
Comparison of the Equine Reference Sequence with Its Sanger Source Data and New Illumina Reads.
Published in:
PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0126852
By:
- Rebolledo-Mendez, Jovan;
- Hestand, Matthew S.;
- Coleman, Stephen J.;
- Zeng, Zheng;
- Orlando, Ludovic;
- MacLeod, James N.;
- Kalbfleisch, Ted
Publication type:
Article
Analysis of Unannotated Equine Transcripts Identified by mRNA Sequencing.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070125
By:
- Coleman, Stephen J.;
- Zeng, Zheng;
- Hestand, Matthew S.;
- Liu, Jinze;
- Macleod, James N.
Publication type:
Article
GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments.
Published in:
BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0514-3
By:
- Herten, Koen;
- Hestand, Matthew S.;
- Vermeesch, Joris R.;
- Van Houdt, Jeroen K. J.
Publication type:
Article
GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments.
Published in:
BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0514-3
By:
- Herten, Koen;
- Hestand, Matthew S.;
- Vermeesch, Joris R.;
- Van Houdt, Jeroen K. J.
Publication type:
Article
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
By:
- 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, Ania M;
- Zinkstok, Janneke R;
- Morrow, Bernice E;
- Heung, Tracy;
- Vorstman, Jacob A S;
- Bassett, Anne S;
- Chow, Eva W C;
- Shashi, Vandana;
- Brain, International 22q11.2;
- Consortium, Behavior
Publication type:
Article
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 17, p. 3754, doi. 10.1093/hmg/ddw221
By:
- Xingyi Guo;
- Delio, Maria;
- Haque, Nousin;
- Castellanos, Raquel;
- Hestand, Matthew S.;
- Vermeesch, Joris R.;
- Morrow, Bernice E.;
- Deyou Zheng
Publication type:
Article
Tissue Restricted Splice Junctions Originate Not Only from Tissue-Specific Gene Loci, but Gene Loci with a Broad Pattern of Expression.
Published in:
PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144302
By:
- Hestand, Matthew S.;
- Zeng, Zheng;
- Coleman, Stephen J.;
- Liu, Jinze;
- MacLeod, James N.
Publication type:
Article
Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition.
Published in:
2019
By:
- 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 F.;
- Petersen, Jessica L.;
- Finno, Carrie J.;
- Bellone, Rebecca R.;
- McCue, Molly E.;
- Brooks, Samantha A.;
- Bailey, Ernest;
- Orlando, Ludovic;
- Green, Richard E.;
- Miller, Donald C.;
- Antczak, Douglas F.
Publication type:
Correction Notice
Improved reference genome for the domestic horse increases assembly contiguity and composition.
Published in:
Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0199-z
By:
- 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 F.;
- Petersen, Jessica L.;
- Finno, Carrie J.;
- Bellone, Rebecca R.;
- McCue, Molly E.;
- Brooks, Samantha A.;
- Bailey, Ernest;
- Orlando, Ludovic;
- Green, Richard E.;
- Miller, Donald C.;
- Antczak, Douglas F.
Publication type:
Article
Improved reference genome for the domestic horse increases assembly contiguity and composition.
Published in:
Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0199-z
By:
- 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 F.;
- Petersen, Jessica L.;
- Finno, Carrie J.;
- Bellone, Rebecca R.;
- McCue, Molly E.;
- Brooks, Samantha A.;
- Bailey, Ernest;
- Orlando, Ludovic;
- Green, Richard E.;
- Miller, Donald C.;
- Antczak, Douglas F.
Publication type:
Article
Pseudoautosomal Region 1 Length Polymorphism in the Human Population.
Published in:
PLoS Genetics, 2014, v. 10, n. 11, p. 1, doi. 10.1371/journal.pgen.1004578
By:
- 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, Koen;
- Voet, Thierry;
- Decorte, Ronny;
- Robinson, Peter N.;
- Vermeesch, Joris R.
Publication type:
Article
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
Published in:
Human Mutation, 2017, v. 38, n. 3, p. 324, doi. 10.1002/humu.23150
By:
- Ardui, Simon;
- Race, Valerie;
- Zablotskaya, Alena;
- Hestand, Matthew S.;
- Esch, Hilde;
- Devriendt, Koenraad;
- Matthijs, Gert;
- Vermeesch, Joris R.
Publication type:
Article
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.
Published in:
Human Mutation, 2016, v. 37, n. 7, p. 661, doi. 10.1002/humu.22984
By:
- Masset, Heleen;
- Hestand, Matthew S.;
- Esch, Hilde;
- Kleinfinger, Pascale;
- Plaisancié, Julie;
- Afenjar, Alexandra;
- Molignier, Romain;
- Schluth‐Bolard, Caroline;
- Sanlaville, Damien;
- Vermeesch, Joris R.
Publication type:
Article
The Versatility of SMRT Sequencing.
Published in:
2019
By:
- Hestand, Matthew S.;
- Ameur, Adam
Publication type:
Editorial

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