Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Nianwei Zhou, Haobo Weng, Weipeng Zhao, Lu Tang, Zhendan Ge, Fangyan Tian, Fangmin Meng, Cuizhen Pan, Xianhong Shu
Summary: This study aimed to investigate the relationship between hypertrophic patterns and genetic variants in HCM patients, contributing to personalized management strategies. Genetic mutations were evaluated in 392 HCM-affected families using Whole Exome Sequencing, and echocardiographic data were collected. The study revealed that HCM patients with gene mutations were more likely to have enhanced septal and interventricular septal thickness. Different gene mutations were associated with specific hypertrophic patterns, providing valuable diagnostic insights.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Review
Cardiac & Cardiovascular Systems
Alessia Paldino, Maddalena Rossi, Matteo Dal Ferro, Irena Tavcar, Elijah Behr, Sanjay Sharma, Michael Papadakis, Gianfranco Sinagra, Gherardo Finocchiaro
Summary: GEN+PHEN- individuals carry pathogenic genetic variants without phenotypic manifestation of the disease, which poses challenges in clinical management. The variable expressivity of genetic variants within the same family and the unpredictable conversion to overt phenotype complicate decision-making in sports participation. Current guidelines acknowledge the lack of evidence and uncertainties in managing GEN+PHEN- individuals.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Brittney Murray, Cynthia A. James
Summary: The definition of arrhythmogenic cardiomyopathy (ACM) has expanded to include other genetic cardiomyopathies. Emerging data on genotype-phenotype correlations reinforce the importance of genetic testing in clinical management of ACM patients.
CURRENT CARDIOLOGY REPORTS
(2022)
Article
Cardiac & Cardiovascular Systems
Giuseppe Ciconte, Michelle M. Monasky, Vincenzo Santinelli, Emanuele Micaglio, Gabriele Vicedomini, Luigi Anastasia, Gabriele Negro, Valeria Borrelli, Luigi Giannelli, Francesca Santini, Carlo de Innocentiis, Roberto Rondine, Emanuela T. Locati, Andrea Bernardini, Beniamino C. Mazza, Valerio Mecarocci, Zarko Calovic, Andrea Ghiroldi, Sara D'Imperio, Sara Benedetti, Chiara Di Resta, Ilaria Rivolta, Giorgio Casari, Enrico Petretto, Carlo Pappone
Summary: In Brugada syndrome, the genetic background is the main determinant for the extent of electrophysiological abnormalities. Carriers of SCN5A mutations exhibit more pronounced epicardial electrical abnormalities and a more aggressive clinical presentation.
EUROPEAN HEART JOURNAL
(2021)
Review
Cardiac & Cardiovascular Systems
Zhe Yang, Jia Chen, Hong Li, Yubi Lin
Summary: Restrictive cardiomyopathy is a rare cardiac muscle disease characterized by impaired ventricular filling and severe diastolic dysfunction. It leads to poor prognosis and increased risk of sudden cardiac death, especially in young individuals. The etiology of RCM can be idiopathic, familial or acquired from systemic diseases. Familial RCM is often caused by mutations in sarcomere protein genes, while a minority is caused by mutations in non-sarcomeric proteins and transthyretin proteins. It is important to identify the genotype-phenotype associations for proper clinical diagnosis and treatment.
REVIEWS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Genetics & Heredity
Lili Yang, Xiaoli Shu, Shujiong Mao, Yi Wang, Xiaonan Du, Chaochun Zou
Summary: Angelman syndrome is a rare neurodevelopmental disease caused by the loss of function of the maternal copy of UBE3A. It is characterized by developmental delay, intellectual disability, lack of speech, and ataxia. Different genetic types may show different phenotypes, and understanding genotype-phenotype correlations can lead to individualized treatment options.
Article
Health Care Sciences & Services
Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao-Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Summary: This study characterized the epigenotype, genotype, and phenotype of SRS patients in Taiwan, finding a positive correlation between SRS score and molecular diagnosis rate. Subjects with mUPD7 had fewer typical features and lower SRS scores compared to those with IC1 hypomethylation. Careful clinical observation and timely molecular confirmation are crucial for early diagnosis and multidisciplinary management of SRS patients.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Joyce Whittington, Anthony Holland
Summary: This article reviews the phenotype and genotype of Prader-Willi syndrome and proposes two possible paths from phenotype to genotype. It also suggests research that can strengthen the evidence for either of these hypotheses.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Ashley Vasko, Theodore G. Drivas, Samantha A. Schrier Vergano
Summary: Coffin-Siris syndrome is a multi-system intellectual disability syndrome with characteristic dysmorphic features, developmental delays, and organ system anomalies. Genotype-phenotype correlations indicate that variants in different genes within the BAF complex lead to varying clinical presentations. However, individuals with BAF-related conditions are at risk of multiple aspects of the phenotype, necessitating comprehensive management and surveillance.
Letter
Oncology
Judith Penkert, Farina J. Struewe, Christina M. Dutzmann, Beate B. Doergeloh, Emilie Montellier, Claire Freycon, Myriam Keymling, Heinz-Peter Schlemmer, Birte Saenger, Beatrice Hoffmann, Tanja Gerasimov, Claudia Blattmann, Sebastian Fetscher, Michael Fruhwald, Simone Hettmer, Uwe Kordes, Vita Ridola, Sabine Kroiss Benninger, Angela Mastronuzzi, Sarah Schott, Juliane Nees, Aram Prokop, Antje Redlich, Markus G. Seidel, Stefanie Zimmermann, Kristian W. Pajtler, Stefan M. Pfister, Pierre Hainaut, Christian P. Kratz
Summary: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants, with high risk of developing cancer. The study found that the occurrence of NULL variants were significantly higher in LFS families compared to attenuated LFS families, and there are genotype-phenotype correlations in different types of pathogenic variants and cancer types.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2022)
Article
Genetics & Heredity
Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe
Summary: The study retrospectively analyzed the clinical and genetic features of 76 ATS patients from 34 unrelated families and investigated the genotype/phenotype correlation for COL4A3/COL4A4 heterozygotes. The results showed that heterozygous carriers of COL4A3 and COL4A4 had a lower risk of developing renal failure compared to hemizygous COL4A5 or double heterozygous COL4A3/COL4A4 carriers, but not different from heterozygous COL4A5 females.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Medicine, General & Internal
Amir Aziz, Szymon K. Musiol, William E. Moody, Luke Pickup, Rob Cooper, Gregory Y. H. Lip
Summary: The main predictors of informative genetic testing for hypertrophic cardiomyopathy include age, septal thickness, family history, and absence of hypertension. Using clinical predictors to decide whom to test is a feasible alternative to investigating all comers, but further validation is needed to make a concrete recommendation.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Medicine, General & Internal
Lionne N. Grootjen, Alicia F. Juriaans, Gerthe F. Kerkhof, Anita C. S. Hokken-Koelega
Summary: This study reveals the genotype-phenotype correlations in Prader-Willi syndrome (PWS) and identifies gene deletions that lead to a more complete PWS phenotype. The results also show that larger deletions do not result in more severe phenotypes. Conventional PWS methylation testing may fail to identify small gene deletions.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pediatrics
Benzhen Wang, Zhanhui Du, Guangsong Shan, Chuanzhu Yan, Victor Wei Zhang, Zipu Li
Summary: Sengers syndrome is a rare genetic disorder characterized by cardiomyopathy, cataracts, myopathy, and lactic acidosis. Genetic testing and combination therapy can improve symptoms, with parents potentially being carriers of the mutated gene.
FRONTIERS IN PEDIATRICS
(2021)
Article
Anatomy & Morphology
Noa Bregman, Avner Thaler, Anat Mirelman, Rick C. Helmich, Tanya Gurevich, Avi Orr-Urtreger, Karen Marder, Susan Bressman, Bastiaan R. Bloem, Nir Giladi
BRAIN STRUCTURE & FUNCTION
(2017)
Article
Neuroimaging
Avner Thaler, Tal Gonen, Anat Mirelman, Rick C. Helmich, Tanya Gurevich, Avi Orr-Urtreger, Bastiaan R. Bloem, Nir Giladi, Talma Hendler
BRAIN IMAGING AND BEHAVIOR
(2019)
Article
Clinical Neurology
Avner Thaler, Efrat Kliper, Inbal Maidan, Talia Herman, Keren Rosenberg-Katz, Noa Bregman, Tanya Gurevich, Tamara Shiner, Jeffrey M. Hausdorff, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman
Article
Geriatrics & Gerontology
Orly Goldstein, Mali Gana-Weisz, Beatrice Nefussy, Batel Vainer, Omri Nayshool, Anat Bar-Shira, Bryan J. Traynor, Vivian E. Drory, Avi Orr-Urtreger
NEUROBIOLOGY OF AGING
(2018)
Article
Geriatrics & Gerontology
Cornelis Blauwendraat, Demis A. Kia, Lasse Pihlstrom, Ziv Gan-Or, Suzanne Lesage, J. Raphael Gibbs, Jinhui Ding, Roy N. Alcalay, Sharon Hassin-Baer, Alan M. Pittman, Janet Brooks, Connor Edsall, Sun Ju Chung, Stefano Goldwurm, Mathias Toft, Claudia Schulte, Dena Hernandez, Andrew B. Singleton, Mike A. Nalls, Alexis Brice, Sonja W. Scholz, Nicholas W. Wood
NEUROBIOLOGY OF AGING
(2018)
Article
Clinical Neurology
Avner Thaler, Noa Bregman, Tanya Gurevich, Tamara Shiner, Yonatan Dror, Ofir Zmira, Ziv Gan-Or, Anat Bar-Shira, Mali Gana-Weisz, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman
PARKINSONISM & RELATED DISORDERS
(2018)
Article
Clinical Neurology
Rachel Saunders-Pullman, Anat Mirelman, Roy N. Alcalay, Cuiling Wang, Roberto A. Ortega, Deborah Raymond, Helen Mejia-Santana, Martha Orbe-Reilly, Brooke A. Johannes, Avner Thaler, Laurie Ozelius, Avi Orr-Urtreger, Karen S. Marder, Nir Giladi, Susan B. Bressman
Article
Clinical Neurology
Avner Thaler, Tal Kozlovski, Tanya Gurevich, Anat Bar-Shira, Mali Gana-Weisz, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman
MOVEMENT DISORDERS
(2018)
Article
Biochemistry & Molecular Biology
Guy Ledergor, Assaf Weiner, Mor Zada, Shuang-Yin Wang, Yael C. Cohen, Moshe E. Gatt, Nimrod Snir, Hila Magen, Maya Koren-Michowitz, Katrin Herzog-Tzarfati, Hadas Keren-Shaul, Chamutal Bornstein, Ron Rotkopf, Ido Yofe, Eyal David, Venkata Yellapantula, Sigalit Kay, Moshe Salai, Dina Ben Yehuda, Arnon Nagler, Lev Shvidel, Avi Orr-Urtreger, Keren Bahar Halpern, Shalev Itzkovitz, Ola Landgren, Jesus San-Miguel, Bruno Paiva, Jonathan J. Keats, Elli Papaemmanuil, Irit Avivi, Gabriel I. Barbash, Amos Tanay, Ido Amit
Article
Clinical Neurology
Noa Bregman, Gitit Kave, Anat Mirelman, Avner Thaler, Mali Gana Weisz, Anat Bar-Shire, Avi Orr-Urtreger, Nir Giladi, Tamara Shiner
ALZHEIMER DISEASE & ASSOCIATED DISORDERS
(2019)
Article
Neurosciences
Yael Jacob, Keren Rosenberg-Katz, Tanya Gurevich, Rick C. Helmich, Bastiaan R. Bloem, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman, Talma Hendler, Avner Thaler
HUMAN BRAIN MAPPING
(2019)
Article
Clinical Neurology
Neha Prakash, Chelsea Caspell-Garcia, Christopher Coffey, Andrew Siderowf, Caroline M. Tanner, Karl Kieburtz, Brit Mollenhauer, Douglas Galasko, Kalpana Merchant, Tatiana Foroud, Lana M. Chahine, Daniel Weintraub, Cindy Casaceli, Ray Dorsey, Renee Wilson, Margaret Herzog, Nichole Daegele, Vanessa Arnedo, Mark Frasier, Todd Sherer, Ken Marek, Samuel Frank, Danna Jennings, Tanya Simuni, Kenneth Marek, Andrew Siderowf, John Seibyl, Christopher Coffey, Caroline Tanner, Duygu Tosun-Turgut, Tanya Simunir, Leslie Shaw, John Trojanowski, Andrew Singleton, Karl Kieburtz, Arthur Toga, Brit Mollenhauer, Douglas Galasko, Werner Poewe, Tatiana Foroud, Kathleen Poston, Todd Sherer, Sohini Chowdhury, Mark Frasier, Catherine Kopil, Vanessa Arnedo, Nichole Daegele, Cynthia Casaceli, Ray Dorsey, Renee Wilson, Sugi Mahes, Christina Salerno, Chelsea Caspell-Garcia, Arthur Toga, Karen Crawford, Tatiana Foroud, Paola Casalin, Giulia Malferrari, Mali Gani Weisz, Avi Orr-Urtreger, John Trojanowski, Leslie Shaw, Thomas Montine, David Russell, Tanya Simuni, Nabila Dahodwala, Nir Giladi, Stewart Factor, Penelope Hogarth, David Standaert, Robert Hauser, Joseph Jankovic, Marie Saint-Hilaire, Irene Richard, David Shprecher, Hubert Fernandez, Katrina Brockmann, Liana Rosenthal, Paolo Barone, Alberto Espay, Dominic Rowe, Karen Marder, Anthony Santiago, Susan Bressman, Shu-Ching Hu, Stuart Isaacson, Jean-Christophe Corvol, Javiar Ruiz Martinez, Eduardo Tolosa, Yen Tai, Marios Politis, Debra Smejdir, Linda Rees, Karen Williams, Farah Kausar, Karen Williams, Whitney Richardson, Diana Willeke, Shawnees Peacock, Beatrice Heim, Anat Mirelman, Barbara Sommerfeld, Alison Freed, Katrina Wakeman, Courtney Blair, Stephanie Guthrie, Leigh Harrell, Christine Hunter, Cathi-Ann Thomas, Raymond James, Grace Zimmerman, Victoria Brown, Jennifer Mule, Ella Hilt, Kori Ribb, Susan Ainscough, Misty Wethington, Madelaine Ranola, Helen Mejia Santana, Juliana Moreno, Deborah Raymond, Krista Speketer, Lisbeth Carvajal, Stephanie Carvalho, Ioana Croitoru, Alicia Garrido, Laura Marie Payne, Veena Viswanth, Lawrence Severt, Maurizio Facheris, Holly Soares, Mark A. Mintun, Jesse Cedarbaum, Peggy Taylor, Kevin Biglan, Emily Vandenbroucke, Zulfiqar Haider Sheikh, Buis Bingol, Tanya Fischer, Pablo Sardi, Remi Forrat, Alastair Reith, Jan Egebjerg, Gabrielle Ahlberg Hillert, Barbara Saba, Chris Min, Robert Umek, Joe Mather, Susan De Santi, Anke Post, Frank Boess, Kirsten Taylor, Igor Grachev, Andreja Avbersek, Pierandrea Muglia, Kaplana Merchant, Johannes Tauscher
PARKINSONISM & RELATED DISORDERS
(2019)
Article
Clinical Neurology
Tal Kozlovski, Alexis Mitelpunkt, Avner Thaler, Tanya Gurevich, Avi Orr-Urtreger, Mali Gana-Weisz, Netta Shachar, Tal Galili, Mira Marcus-Kalish, Susan Bressman, Karen Marder, Nir Giladi, Yoav Benjamini, Anat Mirelman
FRONTIERS IN NEUROLOGY
(2019)
Article
Clinical Neurology
Orly Goldstein, Merav Kedmi, Mali Gana-Weisz, Shir Twito, Beatrice Nefussy, Batel Vainer, Yaara Fainmesser, Alon Abraham, Omri Nayshool, Avi Orr-Urtreger, Vivian E. Drory
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2019)
Article
Physiology
Xenia Simeone, Rudolf Karch, Anna Ciuraszkiewicz, Avi Orr-Urtreger, Rosa Lemmens-Gruber, Petra Scholze, Sigismund Huck
PHYSIOLOGICAL REPORTS
(2019)