Michael C. Sierant

Yale University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index1.5kcitations19works6.02yr avg
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Research Topics

Epigenetics and DNA Methylation(3), Congenital Heart Disease Studies(3), Cerebral Palsy and Movement Disorders(3), RNA modifications and cancer(3), Genomics and Rare Diseases(3)

Publications19 total

Benchmarking autosomal recessive disease prevalence estimation from allele frequencies against newborn screening data
2025Open Access
Mutations in 329 probands with suspected renal electrolyte disorders
2025Open Access
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Proceedings of the National Academy of Sciences·2025· 15 citedOpen Access
Recessive genetic contribution to congenital heart disease in 5,424 probands
Proceedings of the National Academy of Sciences·2025· 9 citedOpen Access
Somatic <i>PIK3CA</i> Mutations in Sporadic Cerebral Cavernous Malformations
New England Journal of Medicine·2021· 100 citedOpen Access
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Nature Genetics·2021· 5 citedOpen Access
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (vol 52, pg 1046, 2020)
Nature Genetics·2021· 1 cited
Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus
Neurosurgery·2020
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Nature Medicine·2020· 154 citedOpen Access
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Nature Genetics·2020· 170 citedOpen Access
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
iScience·2020· 46 citedOpen Access
Single-Cell Sequencing in Cancer: Recent Applications to Immunogenomics and Multi-omics Tools
Genomics & Informatics·2018· 18 citedOpen Access
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Nature Genetics·2017· 904 citedOpen Access
Compound loss of function of nuclear receptors Tr2 and Tr4 leads to induction of murine embryonic β-type globin genes
Blood·2015· 23 citedOpen Access
Biased, Non-equivalent Gene-Proximal and -Distal Binding Motifs of Orphan Nuclear Receptor TR4 in Primary Human Erythroid Cells
PLoS Genetics·2014· 9 citedOpen Access
Developmental transcriptome analysis of human erythropoiesis
Human Molecular Genetics·2014· 51 citedOpen Access
Cialka inkluzyjne i ich wykorzystanie do otrzymywania rekombinowanych bialek w systemie ekspresyjnym Escherichia coli
Biotechnologia·2004
Inclusion bodies and their application for the production of recombinant proteins in Escherichia coli expression system
Biotechnologia·2004
Construction of synthetic gene coding for K2L-tPA ? deletion variant of tissue plasminogen activator. Expression in E. coli and renaturation of recombinant protein
Biotechnologia·2003

Frequent Co-authors

Sheng Chih Jin(10), James Knight(10), Shrikant Mane(10), Richard P. Lifton(10), Qiongshi Lu(9), Christopher Castaldi(8), Boyang Li(8), Xue Zeng(7), Shozeb Haider(7), Kaya Bilgüvar(7), Hongyu Zhao(6), Francesc López‐Giráldez(6), Weilai Dong(6), Carol Nelson‐Williams(6), Junhui Zhang(5), Boris Keren(5), Amar H. Sheth(4), Irina R. Tikhonova(4), Sarah U. Morton(3), Seema Mital(3)