Jennifer Schleit

Children’s Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

19h-index1.8kcitations47works6.72yr avg
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Research Topics

Genetics, Aging, and Longevity in Model Organisms(12), Genomics and Rare Diseases(11), Mitochondrial Function and Pathology(5), Genomic variations and chromosomal abnormalities(5), DNA Repair Mechanisms(4)

Publications46 total

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
European Journal of Human Genetics·2025· 4 citedOpen Access
P637: Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab*
Genetics in Medicine Open·2025Open Access
P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education
Genetics in Medicine Open·2025Open Access
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
The American Journal of Human Genetics·2024· 8 citedOpen Access
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial
The American Journal of Human Genetics·2024· 10 citedOpen Access
P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*
Genetics in Medicine Open·2024· 3 citedOpen Access
Novel filamin C (<i>FLNC</i>) variant causes a severe form of familial mixed <scp>hypertrophic‐restrictive</scp> cardiomyopathy
American Journal of Medical Genetics Part A·2023· 14 citedOpen Access
eP359: Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease
Genetics in Medicine·2022
eP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges
Genetics in Medicine·2022
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes
Genetics in Medicine·2022Open Access
eP399: Characterizing molecular diagnostic findings from next-generation sequencing panel testing for individuals with suspected congenital hypothyroidism or resistance to thyroid hormone
Genetics in Medicine·2022Open Access
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing
Genetics in Medicine·2022Open Access
Genetic Testing for Pulmonary Arterial Hypertension: Diagnostic Yield and Findings From a Cohort of Patients Referred for Targeted Panel Testing
Heart Lung and Circulation·2022Open Access
Diagnostic Yield of Panel Genetic Testing in a Cohort of &gt;200 Patients With Congenital Heart Disease
Heart Lung and Circulation·2022Open Access
Biallelic NRAP variants are a significant cause of dilated cardiomyopathy
Molecular Genetics and Metabolism·2021
Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing
Molecular Genetics and Metabolism·2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
BMC Cardiovascular Disorders·2021· 50 citedOpen Access
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
PLoS ONE·2021· 25 citedOpen Access
Additional file 1 of Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Figshare·2021Open Access
Additional file 2 of Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Figshare·2021Open Access
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Frequent Co-authors

Juha Koskenvuo(16), Matt Kaeberlein(13), Samuel Myllykangas(13), Julie Hathaway(12), Inka Saarinen(12), Pertteli Salmenperä(12), Jussi Paananen(12), George L. Sutphin(11), Tiia Kangas‐Kontio(10), Johanna Tommiska(10), Massimiliano Gentile(10), Eija H. Seppälä(9), Sari Tuupanen(9), Tero‐Pekka Alastalo(9), Joe R. Delaney(8), Daniel Carr(8), Johanna Sistonen(8), Elroy H. An(7), Marissa Fletcher(7), Monika Jelic(7)