Matthew S. Hestand

Cincinnati Children's Hospital Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index2.5kcitations57works11.02yr avg
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Research Topics

Congenital heart defects research(14), Genomics and Phylogenetic Studies(12), Genomic variations and chromosomal abnormalities(12), Molecular Biology Techniques and Applications(8), Genomics and Chromatin Dynamics(7)

Publications55 total

Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities
American Journal of Medical Genetics Part A·2024· 4 citedOpen Access
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort
JCI Insight·2024· 18 citedOpen Access
Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain
Translational Psychiatry·2020· 24 citedOpen Access
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Molecular Psychiatry·2020· 132 citedOpen Access
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
The American Journal of Human Genetics·2019· 72 citedOpen Access
Advances in Single Molecule, Real-Time (SMRT) Sequencing
2019Open Access
Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition
Communications Biology·2019· 2 citedOpen Access
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
Genetics in Medicine·2019· 24 citedOpen Access
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
Genome Research·2019· 61 citedOpen Access
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins
Human Molecular Genetics·2019· 10 citedOpen Access
The Versatility of SMRT Sequencing
Genes·2019· 25 citedOpen Access
Improved reference genome for the domestic horse increases assembly contiguity and composition
Communications Biology·2018· 270 citedOpen Access
Fetal fraction evaluation in non-invasive prenatal screening (NIPS)
European Journal of Human Genetics·2018· 57 citedOpen Access
The 22q11 low copy repeats are characterized by unprecedented size and structure variability
2018· 19 citedOpen Access
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
The American Journal of Human Genetics·2018· 2 citedOpen Access
Single-Molecule Sequencing: Towards Clinical Applications
Trends in biotechnology·2018· 187 cited
EquCab3, an Updated Reference Genome for the Domestic Horse
2018· 29 citedOpen Access
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
Nucleic Acids Research·2018· 739 citedOpen Access
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
Human Molecular Genetics·2018· 28 citedOpen Access
Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene
Journal of Molecular Diagnostics·2017· 34 citedOpen Access
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Frequent Co-authors

Joris Vermeesch(34), Donna M. McDonald‐McGinn(13), Ann Swillen(13), Bernice E. Morrow(11), Wolfram Demaerel(11), Elfi Vergaelen(11), Beverly S. Emanuel(10), Koenraad Devriendt(9), Elaine H. Zackai(9), James N. MacLeod(8), Raquel E. Gur(6), Jacob Vorstman(6), Jeroen Breckpot(6), T. Blaine Crowley(6), Jeroen Van Houdt(6), Ted Kalbfleisch(5), Ludovic Orlando(5), Johan T. den Dunnen(5), Peter A.C. ’t Hoen(5), Carrie E. Bearden(5)