A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report by Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee

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Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation by Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin

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Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia by Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee

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Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C) by Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi

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Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing by Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee

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Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome by Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal

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Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder by Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee

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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease by Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee

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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder by Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen

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A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype by Laura Schultz-Rogers, Francis P. Lach, Kimberly A. Rickman, Alejandro Ferrer, Abhishek A. Mangaonkar, Tanya L. Schwab, Christopher T. Schmitz, Karl J. Clark, Nikita R. Dsouza, Michael T. Zimmermann, Mark Litzow, Nicole Jacobi, Eric W. Klee, Agata Smogorzewska, Mrinal M. Patnaik

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Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases by Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis, Filippo Pinto e Vairo

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Genomic epidemiology reveals the dominance of Hennepin County in the transmission of SARS-CoV-2 in Minnesota from 2020 to 2022 by Matthew Scotch, Kimberly Lauer, Eric D. Wieben, Yesesri Cherukuri, Julie M. Cunningham, Eric W. Klee, Jonathan J. Harrington, Julie S. Lau, Samantha J. McDonough, Mark Mutawe, John C. O'Horo, Chad E. Rentmeester, Nicole R. Schlicher, Valerie T. White, Susan K. Schneider, Peter T. Vedell, Xiong Wang, Joseph D. Yao, Bobbi S. Pritt, Andrew P. Norgan

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COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation by Saranya Sankaranarayanan, Jagadheshwar Balan, Jesse R Walsh, Yanhong Wu, Sara Minnich, Amy Piazza, Collin Osborne, Gavin R Oliver, Jessica Lesko, Kathy L Bates, Kia Khezeli, Darci R Block, Margaret DiGuardo, Justin Kreuter, John C O’Horo, John Kalantari, Eric W Klee, Mohamed E Salama, Benjamin Kipp, William G Morice, Garrett Jenkinson

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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes by Bergithe E. Oftedal, Kristian Assing, Safa Baris, Stephanie L. Safgren, Isik S. Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González-Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) by Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

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Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) by Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

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