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L. Schimmenti · SciRah

Researcher profile · Semantic Scholar

L. Schimmenti

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L. Schimmenti — researcher profile on SciRah

h-index: 34
Works: 201
Citations: 5,940

Most-cited papers

Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases
Kathleen R. Bogart, Amanda R. Hemmesch, E. Barnes, Thomas Blissenbach +23 more
2022Orphanet Journal of Rare Diseases95 citations Open access
Semantic Scholar
ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs
Marina T. DiStefano, Sarah E. Hemphill, A. Oza, Rebecca K. Siegert +16 more
2019Genetics in Medicine83 citations Open access
Semantic Scholar
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E. M. Stephenson, G. Costain, Laura E R Blok, Michael Silk +100 more
2022American Journal of Human Genetics38 citations Open access
Semantic Scholar
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
M. Patel, Marina T. DiStefano, A. Oza, Madeline Y. Hughes +47 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
Impact of integrated translational research on clinical exome sequencing
E. W. Klee, M. Cousin, F. Vairo, Joel A. Morales-Rosado +56 more
2020Genetics in Medicine35 citations Open access
Semantic Scholar
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru +35 more
2024American Journal of Medical Genetics. Part A29 citations Open access
Semantic Scholar
New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells
M. Beurg, L. Schimmenti, Alaa Koleilat, S. Amr +4 more
2021Journal of Neuroscience28 citations Open access
Semantic Scholar
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
K. Wilton, Lauren B. Gunderson, L. Hasadsri, C. P. Wood +1 more
2020Molecular Genetics & Genomic Medicine23 citations Open access
Semantic Scholar
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation
Sangwoo T. Han, Andrew C. Kim, Karolyn Garcia, L. Schimmenti +5 more
2022Molecular Genetics and Metabolism21 citations Open access
Semantic Scholar
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
H. Happ, L. Sadleir, M. Zemel, G. de Valles-Ibáñez +51 more
2022Neurology19 citations Open access
Semantic Scholar
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India
S. Yohe, M. Sivasankar, Anuprita Ghosh, Arkasubhra Ghosh +6 more
2019Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
Building the vertebrate codex using the gene breaking protein trap library
Noriko Ichino, Makayla Serres, Rhianna M. Urban, Mark D. Urban +27 more
2020eLife17 citations Open access
Semantic Scholar
Case-Based Learning in Translational Biomedical Research Education Provides More Realistic and Adaptive Skills for Early-Career Scientists Than Didactic Sessions
Alexandra J. Greenberg-Worisek, Katherine A. Campbell, E. Klee, N. Staff +4 more
2019Academic medicine : journal of the Association of American Medical Colleges15 citations Open access
Semantic Scholar
Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup
P. Kiessling, Eric M. Dowling, Yajue Huang, Mai-Lan Ho +5 more
2019Cold Spring Harbor molecular case studies14 citations Open access
Semantic Scholar
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
P. Blackburn, Cinthya J. Zepeda-Mendoza, Teresa M. Kruisselbrink, L. Schimmenti +10 more
2019European Journal of Human Genetics14 citations Open access
Semantic Scholar
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
F. Vairo, J. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen +59 more
2023Journal of Translational Medicine13 citations Open access
Semantic Scholar
Expanding the phenotype of DNAJC30‐associated Leigh syndrome
M. Zawadzka, M. Krygier, Małgorzata Pawłowicz, M. Wilke +9 more
2022Clinical Genetics13 citations
Semantic Scholar
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Geeske M. van Woerden, R. Senden, C. de Konink, R. A. Trezza +25 more
2022Human Mutation13 citations Open access
Semantic Scholar
Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.
Raphaëlle Riché, Mei-Jiang Liao, I. Pena, K. Leung +6 more
2018JCI Insight12 citations Open access
Semantic Scholar
Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD
Karthik Muthusamy, E. Macke, E. Klee, P. Tebben +4 more
2020American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Stephanie L. Safgren, R. Olson, F. Vairo, E. Bothun +3 more
2021American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Comorbidity and Severity in Childhood Apraxia of Speech: A Retrospective Chart Review.
K. Chenausky, Becky S. Baas, R. Stoeckel, Taylor M. Brown +4 more
2023Journal of Speech, Language and Hearing Research9 citations Open access
Semantic Scholar
L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1
Alaa Koleilat, Joseph A. Dugdale, T. A. Christenson, J. Bellah +4 more
2020Disease Models & Mechanisms8 citations Open access
Semantic Scholar
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Eva Vanbelleghem, T. Van Damme, A. Beyens, S. Symoens +38 more
2024European Journal of Human Genetics7 citations Open access
Semantic Scholar
ASSOCIATION OF PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY WITH A PATHOGENIC VARIANT IN THE HK1 GENE
Saumya M. Shah, L. Schimmenti, J. Chiang, R. Iezzi
2020Retinal cases & brief reports7 citations
Semantic Scholar
Vital Dye Uptake of YO-PRO-1 and DASPEI Depends Upon Mechanoelectrical Transduction Function in Zebrafish Hair Cells
Ashley Scott Patterson, Joseph A. Dugdale, Alaa Koleilat, Anna-Magdalena Krauß +5 more
2024Journal of the Association for Research in Otolaryngology6 citations Open access
Semantic Scholar
Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
Malinda L. Butz, A. McDonald, P. Lundquist, M. Meyer +9 more
2020The Journal of Applied Laboratory Medicine6 citations Open access
Semantic Scholar
Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large‐scale screening
Jaime Lopes, Noemi Vidal-Folch, P. Lundquist, L. Schimmenti +10 more
2022Pediatric Pulmonology5 citations
Semantic Scholar
Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
Karthik Muthusamy, Christian Hanna, D. Johnson, Carl H. Cramer +6 more
2020American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome
Joseph D. Farris, Cheryl L. Khanna, J. Smadbeck, Sarah H. Johnson +13 more
2024American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
Marina T. DiStefano, Sarah E. Hemphill, A. Oza, Rebecca K. Siegert +16 more
2019Genetics in Medicine4 citations Open access
Semantic Scholar
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
S. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia +339 more
2025Nature Communications3 citations Open access
Semantic Scholar
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report
Faizal Z. Asumda, Jessica A. Kraker, Sarah C Thomas, J. Maleszewski +3 more
2023Therapeutic Advances in Rare Disease3 citations Open access
Semantic Scholar
The GoAudio Quantitative Mobile Audiology Test Enhances Access to Clinical Hearing Assessments.
Alaa Koleilat, David P. Argue, L. Schimmenti, S. Ekker +1 more
2020American Journal of Audiology3 citations Open access
Semantic Scholar
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.
Setu Mittal, E. F. Johnson, L. Schimmenti, N. Mohandesi
2026American Journal of Medical Genetics. Part C, Seminars in Medical Genetics2 citations
Semantic Scholar
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
A. Ferrer, P. Duffy, R. Olson, Michael A. Meiners +24 more
2024Human Genetics2 citations Open access
Semantic Scholar
An Analysis of Curricular Structures in MD-PhD Programs in the United States
M. Roghmann, L. Schimmenti, Christopher S. Williams, Talia H. Swartz
2024Academic medicine : journal of the Association of American Medical Colleges2 citations
Semantic Scholar
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia
Alejandra Vasquez, L. Schimmenti, Nadir Demirel, Amy E Rabatin +4 more
2024Neurology: Genetics2 citations Open access
Semantic Scholar
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
Matheus V M B Wilke, L. Schimmenti, Madeline Q. R. Lopour, M. Tollefson +1 more
2023Molecular Genetics & Genomic Medicine2 citations Open access
Semantic Scholar
Alström syndrome caused by maternal uniparental disomy
Madeline Q. R. Lopour, L. Schimmenti, N. Boczek, H. Kearney +2 more
2022American Journal of Ophthalmology Case Reports2 citations Open access
Semantic Scholar
Advancing Clinical Practice through Integration of Congenital Cytomegalovirus (cCMV) Testing with Newborn Hearing Screening at Mayo Clinic
Joscelyn R K Martin, W. Huskins, L. Schimmenti, S. Cofer +1 more
20212 citations
Semantic Scholar
3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome
Jacob R Greenmyer, W. Thompson, N. Hoppman, Shakila P. Khan +3 more
2021British Journal of Haematology2 citations Open access
Semantic Scholar
Current Approaches to the Management of Usher Syndrome for the Clinician
Alaa Koleilat, L. Schimmenti, G. Poling
20202 citations
Semantic Scholar
Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Stephanie J. Youssef, Robert J. Macielak, L. Schimmenti, K. Chatzopoulos +1 more
2020Annals of Otology, Rhinology and Laryngology2 citations
Semantic Scholar
The Best Retinitis Pigmentosa Masquerade.
M. Brodsky, L. Schimmenti, R. Iezzi
2019Ophthalmology (Rochester, Minn.)2 citations Open access
Semantic Scholar
MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.
Rishi Sharma, L. Schimmenti, Benn E. Smith, F. Vairo +2 more
2026Neuromuscular Disorders1 citations
Semantic Scholar
Rapid Whole-Genome Sequencing in Pediatric Neurology Inpatients.
Man Amanat, Asma Ali, Q. Tan, Paul E. Youssef +8 more
2026JAMA Neurology1 citations Open access
Semantic Scholar
ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.
G. Hernandez-Herrera, Joseph A. Dugdale, Jasmine G Wallace, Ryan P. Cotter +3 more
2026Human Molecular Genetics1 citations Open access
Semantic Scholar
ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time
Kezang Tshering, M. DiStefano, A. Oza, P. Ajuyah +39 more
2025Genetics in Medicine1 citations Open access
Semantic Scholar
Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities
Kevin Ferenchak, J. Guerin, Asra Nayab, G. Keating +5 more
2025American Journal of Neuroradiology1 citations Open access
Semantic Scholar

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