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Genomic Reanalysis Of A Pan-European Rare-Disease Resource Yields New Diagnoses., Steven Laurie, Wouter Steyaert, Elke De Boer, Kiran Polavarapu, Nika Schuermans, Anna K Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine De Sainte Agathe, Anne-Sophie Denommé-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia-Pelaez, Lena Guillot-Noel, Tobias B Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmüller, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Carla Oliveira, Jaroslava Paulasová Schwabová, Martje G Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukas Ryba, Karolis Šablauskas, Marco Savarese, Ludger Schöls, Leon Schütz, Verena Steinke-Lange, Giovanni Stevanin, Volker Straub, Marc Sturm, Morris A Swertz, Marco Tartaglia, Iris B A W Te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van De Vondel, Bart Van De Warrenburg, Jeroen Van Reeuwijk, Jana Vandrovcova, Antonio Vitobello, Janet Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldiz, Luca Zalatnai, Birte Zurek, Solve-Rd Ditf-Genturis, Solve-Rd Ditf-Ithaca, Solve-Rd Ditf-Euro-Nmd, Solve-Rd Ditf-Rnd, Solve-Rd Consortium, Anthony J Brookes, Teresinha Evangelista, Christian Gilissen, Holm Graessner, Nicoline Hoogerbrugge, Stephan Ossowski, Olaf Riess, Rebecca Schüle, Matthis Synofzik, Alain Verloes, Leslie Matalonga, Han G Brunner, Katja Lohmann, Richarda M De Voer, Ana Töpf, Lisenka E L M Vissers, Sergi Beltran, Alexander Hoischen Feb 2025

Genomic Reanalysis Of A Pan-European Rare-Disease Resource Yields New Diagnoses., Steven Laurie, Wouter Steyaert, Elke De Boer, Kiran Polavarapu, Nika Schuermans, Anna K Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine De Sainte Agathe, Anne-Sophie Denommé-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia-Pelaez, Lena Guillot-Noel, Tobias B Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmüller, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Carla Oliveira, Jaroslava Paulasová Schwabová, Martje G Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukas Ryba, Karolis Šablauskas, Marco Savarese, Ludger Schöls, Leon Schütz, Verena Steinke-Lange, Giovanni Stevanin, Volker Straub, Marc Sturm, Morris A Swertz, Marco Tartaglia, Iris B A W Te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van De Vondel, Bart Van De Warrenburg, Jeroen Van Reeuwijk, Jana Vandrovcova, Antonio Vitobello, Janet Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldiz, Luca Zalatnai, Birte Zurek, Solve-Rd Ditf-Genturis, Solve-Rd Ditf-Ithaca, Solve-Rd Ditf-Euro-Nmd, Solve-Rd Ditf-Rnd, Solve-Rd Consortium, Anthony J Brookes, Teresinha Evangelista, Christian Gilissen, Holm Graessner, Nicoline Hoogerbrugge, Stephan Ossowski, Olaf Riess, Rebecca Schüle, Matthis Synofzik, Alain Verloes, Leslie Matalonga, Han G Brunner, Katja Lohmann, Richarda M De Voer, Ana Töpf, Lisenka E L M Vissers, Sergi Beltran, Alexander Hoischen

Faculty Research 2025

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed rare diseases from 6,004 families. We established a collaborative, two-level expert review infrastructure that allowed a genetic diagnosis in 506 (8.4%) families. Of 552 disease-causing variants identified, 464 (84.1%) were single-nucleotide variants or short insertions/deletions. These variants were either located in recently published novel disease …


2025-02-01 Caudill Connection, Morehead State University. Caudill College Of Arts, Humanities And Social Sciences. Feb 2025

2025-02-01 Caudill Connection, Morehead State University. Caudill College Of Arts, Humanities And Social Sciences.

Caudill Connection

Caudill Connection newsletter for February of 2025.


Prediction Of Lacosamide Concentrations To Support Dose Optimization During Pregnancy, Jessica M. Barry, Sílvia M. Illamola, Page B. Pennell, Catherine M.T. Sherwin, Kimford J. Meador, Angela K. Birnbaum Feb 2025

Prediction Of Lacosamide Concentrations To Support Dose Optimization During Pregnancy, Jessica M. Barry, Sílvia M. Illamola, Page B. Pennell, Catherine M.T. Sherwin, Kimford J. Meador, Angela K. Birnbaum

Pediatrics Faculty Publications

Objective: We aimed to quantify and predict lacosamide exposure during pregnancy by developing a pregnancy physiologically-based pharmacokinetic model, allowing the prediction of potential dose increases to support maintaining a patient's preconception lacosamide concentrations. Methods: Models for nonpregnant adults and pregnant female patients were constructed using physiochemical and pharmacological parameters identified from literature review. Evaluation of plasma concentration data from human males was digitized froM.T.he literature. Concentration data in nonpregnant and pregnant human females were available froM.T.he Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study, a longitudinal observational study which followed 11 nonpregnant and 16 pregnant women receiving lacosamide. …


Pharmacokinetic Effect Of Disease Severity And Use Of Extracorporeal Membrane Oxygenation In Critically Ill Asian Patients Receiving Vancomycin, Charul Avachat, Pi Lien Hung, Angela K. Birnbaum, Daniel P. Healy, Catherine M.T. Sherwin, Alex C. Lin Feb 2025

Pharmacokinetic Effect Of Disease Severity And Use Of Extracorporeal Membrane Oxygenation In Critically Ill Asian Patients Receiving Vancomycin, Charul Avachat, Pi Lien Hung, Angela K. Birnbaum, Daniel P. Healy, Catherine M.T. Sherwin, Alex C. Lin

Pediatrics Faculty Publications

Purpose: Vancomycin is an essential antibiotic for the treatment of severe gram-positive bacterial infections, including methicillin-resistant Staphylococcus aureus (MRSA). In critically ill patients, particularly children, attaining the appropriate dosage is crucial to avert drug resistance and ensure therapeutic efficacy. This study sought to investigate the pharmacokinetics of vancomycin in critically ill Asian pediatric patients and evaluate the influence of extracorporeal membrane oxygenation (ECMO) and disease severity on vancomycin clearance. Methods: This retrospective analysis examined data from 90 critically ill Asian patients residing in Kaohsiung, Taiwan, encompassing 263 data points gathered over 2 years. A one-compartment pharmacokinetic model with first-order elimination …


Reforming The Medical Expense Income Tax Deduction To Better Reflect "Crip Time", Diane Kemker Feb 2025

Reforming The Medical Expense Income Tax Deduction To Better Reflect "Crip Time", Diane Kemker

University of Michigan Journal of Law Reform Caveat

Extraordinary medical expenses— whether due to a one-time occurrence or a chronic condition— happen on their own time. These expenses, their causes, and their consequences (medical, personal, financial, or all of these) can rarely be neatly cabined into a single calendar year. Treatment requiring an expensive prescription medication or complex surgery not covered by insurance may address a condition that arose over years. That condition may have interfered with a taxpayer’s ability to work in prior years, the current year, and perhaps for years to come, even for the rest of the taxpayer’s earning life. The medical condition of a …


Educating Medical Students In Sleep, Diet, And Exercise To Determine Effects On Their Treatment Plan Development For Future Patients, Paul Jackson, Wyatt Edgekoski, Kaleb Gustavsen, Andrew Payne Feb 2025

Educating Medical Students In Sleep, Diet, And Exercise To Determine Effects On Their Treatment Plan Development For Future Patients, Paul Jackson, Wyatt Edgekoski, Kaleb Gustavsen, Andrew Payne

Annual Research Symposium

No abstract provided.


"Und So Ist Der Mikrokosmos Tennis Immer Auch Ein Makrokosmos Des Lebens”: Tennis Als Motiv In Der Deutschsprachigen Gegenwartsliteratur, Reinhard Andress Feb 2025

"Und So Ist Der Mikrokosmos Tennis Immer Auch Ein Makrokosmos Des Lebens”: Tennis Als Motiv In Der Deutschsprachigen Gegenwartsliteratur, Reinhard Andress

Modern Languages and Literatures: Faculty Publications and Other Works

No abstract provided.


Acceptability Of Self-Collected Pap Smears Among Karen-Speaking Patients In The Midwest, Neha Khalid, Melanie Menning Feb 2025

Acceptability Of Self-Collected Pap Smears Among Karen-Speaking Patients In The Midwest, Neha Khalid, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.


Acceptability Of Self-Swab Hpv Cervical Cancer Screenings Among Arabic-Speaking Individuals, Nour Elrokhsi, Melanie Menning Feb 2025

Acceptability Of Self-Swab Hpv Cervical Cancer Screenings Among Arabic-Speaking Individuals, Nour Elrokhsi, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.


Analyzing The Acceptability Of Hpv Self-Swabs For Cervical Cancer Screening In Hispanic Populations, Michaela Bartels, Nour Elrokhsi, Kallin Herman, Neha Khalid, Llicel Rodriguez, Melanie Menning Feb 2025

Analyzing The Acceptability Of Hpv Self-Swabs For Cervical Cancer Screening In Hispanic Populations, Michaela Bartels, Nour Elrokhsi, Kallin Herman, Neha Khalid, Llicel Rodriguez, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.


Culturally Tailored Interventions Enhance Diabetes Awareness And Management Within The Karen Community, Leigh Jahnke, Moo Law Eh Soe, Jessica Witt, Melanie Menning Feb 2025

Culturally Tailored Interventions Enhance Diabetes Awareness And Management Within The Karen Community, Leigh Jahnke, Moo Law Eh Soe, Jessica Witt, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.


Andrews University Wind Symphony - Winter Concert, Andrews University Feb 2025

Andrews University Wind Symphony - Winter Concert, Andrews University

Concerts and Event Programs 2024-2025

Andrews University Wind Symphony, under the direction of Dr. Denisse Santos, presents its Winter Concert Of Legends and Lore in Collaboration with Southwestern Michigan College Brass Band, Mark Hollandsworth, director.


M 105.50: Contemporary Mathematics, Michael L. Bruner Feb 2025

M 105.50: Contemporary Mathematics, Michael L. Bruner

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Nasx 235x.01: Oral And Written Traditions Of Native Americans, Martin I. Lopez Feb 2025

Nasx 235x.01: Oral And Written Traditions Of Native Americans, Martin I. Lopez

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Nasx 304e.01: Native American Beliefs And Philosophy, Martin I. Lopez Feb 2025

Nasx 304e.01: Native American Beliefs And Philosophy, Martin I. Lopez

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 101h.01: Anthropology And The Human Experience, David Garret Kerr Feb 2025

Anty 101h.01: Anthropology And The Human Experience, David Garret Kerr

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 101h.02: Anthropology And The Human Experience, David Garret Kerr Feb 2025

Anty 101h.02: Anthropology And The Human Experience, David Garret Kerr

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 133x.B01: Food And Culture, David Garret Kerr Feb 2025

Anty 133x.B01: Food And Culture, David Garret Kerr

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 208.50: Anthropological Statistics, Randall R. Skelton Feb 2025

Anty 208.50: Anthropological Statistics, Randall R. Skelton

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 323x.01: Native Peoples Of Montana, Gregory R. Campbell Feb 2025

Anty 323x.01: Native Peoples Of Montana, Gregory R. Campbell

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 330x.01: Native Peoples Of The Greater Southwest, Gregory R. Campbell Feb 2025

Anty 330x.01: Native Peoples Of The Greater Southwest, Gregory R. Campbell

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 455.01: Artifact Analysis, Kelly J. Dixon Feb 2025

Anty 455.01: Artifact Analysis, Kelly J. Dixon

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 459.01; Archaeology Of The Arctic And Subarctic, Anna M. Prentiss Feb 2025

Anty 459.01; Archaeology Of The Arctic And Subarctic, Anna M. Prentiss

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 508.50: Applied Anthropological Statistics, Randall R. Skelton Feb 2025

Anty 508.50: Applied Anthropological Statistics, Randall R. Skelton

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 512.01: Advanced Forensic Anthropology, Randall R. Skelton Feb 2025

Anty 512.01: Advanced Forensic Anthropology, Randall R. Skelton

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 513.01: Seminar In Bioarchaeology & Skeletal Biology, Meredeth H. Snow Feb 2025

Anty 513.01: Seminar In Bioarchaeology & Skeletal Biology, Meredeth H. Snow

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 591.01: Forensic Casework, Katherine S. Baca Feb 2025

Anty 591.01: Forensic Casework, Katherine S. Baca

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 591.02: Artifact Analysis, Kelly J. Dixon Feb 2025

Anty 591.02: Artifact Analysis, Kelly J. Dixon

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Anty 601.02: Research Design & Proposal Preparation, Anna M. Prentiss Feb 2025

Anty 601.02: Research Design & Proposal Preparation, Anna M. Prentiss

University of Montana Course Syllabi, 2021-2025

No abstract provided.


Bch 380.00: Biochemistry, Scott Samuels Feb 2025

Bch 380.00: Biochemistry, Scott Samuels

University of Montana Course Syllabi, 2021-2025

No abstract provided.