Article
Genetics & Heredity
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanidir, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan-Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
Summary: The genome analysis study of CHD in consanguineous families in Turkey reveals a unique genetic architecture, where consanguinity has a strong contribution to laterality defects. This study provides valuable information about the genetic landscape of CHD in consanguineous families in Turkey.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Gerhard-Paul Diller, Stefan Orwat, Astrid Elisabeth Lammers, Robert M. Radke, Fernando De-Torres-Alba, Renate Schmidt, Ursula Marschall, Ulrike M. Bauer, Dominic Enders, Leo Bronstein, Gerrit Kaleschke, Helmut Baumgartner
Summary: This study aimed to provide population-based data on healthcare provision for adults with congenital heart disease (ACHD) and found that cardiology care was associated with superior survival and lower rates of major complications compared to primary care for ACHD patients.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Gerhard-Paul Diller, Stefan Orwat, Astrid Elisabeth Lammers, Robert M. Radke, Fernando De-Torres-Alba, Renate Schmidt, Ursula Marschall, Ulrike M. Bauer, Dominic Enders, Leo Bronstein, Gerrit Kaleschke, Helmut Baumgartner
Summary: This study found that compared to receiving primary care only, ACHD patients receiving cardiology care had lower mortality and major complication rates. However, it is concerning that even in a high resource setting, almost half of ACHD patients are not receiving regular cardiac care. More efforts are needed to ensure appropriate ACHD care for patients.
EUROPEAN HEART JOURNAL
(2021)
Article
Genetics & Heredity
Nour Albesher, Salam Massadeh, Sabah M. Hassan, Manal Alaamery
Summary: This review discusses the epidemiology and genetics of congenital heart disease (CHD) in consanguineous populations, using Saudi Arabia as a study model. Through genetic testing, we have gained a better understanding of the genetic basis and molecular mechanisms involved in cardiac lesions.
Article
Sport Sciences
Karoline Krzywda, Kelli M. Teson, Jessica S. Watson, Suma Goudar, Daniel Forsha, Jonathan B. Wagner, David A. White
Summary: Patients with single ventricle heart disease after Fontan palliation are prone to cardiovascular deterioration. A peak oxygen consumption less than 50% of predicted is an independent predictor of Fontan-related morbidity and mortality. The recovery of oxygen consumption after exercise (VO2RD) has not been extensively studied in youth with Fontan physiology.
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2023)
Article
Multidisciplinary Sciences
Xin Li, Jin Zhu, Jun An, Yuqing Wang, Yili Wu, Xuezhi Li
Summary: This study investigated the growth retardation status of Chinese pediatric TOF patients under 5 years old and found that their body height, weight, and BMI were significantly lower than WHO Child Growth Standards. The study also revealed that older TOF patients (aged 13-60 months) experienced more stunting and deterioration in body height and weight compared to infants (aged 0-12 months), highlighting the importance of early intervention to prevent severe growth retardation.
SCIENTIFIC REPORTS
(2021)
Article
Cardiac & Cardiovascular Systems
Moustafa Rashed, Ghina Fakhri, Rana Zareef, Nour Abdul Halim, Mohamed Ahmed, Ghassan Dbaibo, Issam El-Rassi, Fadi Bitar, Mariam Toufic Arabi
Summary: In this study, a 20-year experience of a major referral tertiary care center in diagnosing and treating pediatric patients with infective endocarditis is presented. The medical records of 65 patients were comprehensively reviewed, and it was found that more than half of the patients had vegetation evident on echocardiography. The most commonly affected valve was the pulmonary valve.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Pediatrics
Zhanhao Su, Li Xiang, Zeye Liu, Hao Wu, Shoujun Li, Huiwen Chen, Hao Zhang
Summary: Many CHS facilities in northern China have limited specialist capacity, leading to suboptimal surgical care for many CHD patients, while a minority of busy facilities have higher surgical volumes. Policy measures need to be implemented to address the issues of insufficient medical resources and geographic disparities.
FRONTIERS IN PEDIATRICS
(2021)
Article
Oncology
Manohar Lal Yadav, Prashant Ranjan, Parimal Das, Dharmendra Jain, Ashok Kumar, Bhagyalaxmi Mohapatra
Summary: Genetic mutations in the TGF-beta/NODAL signaling pathway may cause congenital heart disease in humans. Variants in NODAL and ACVR1B identified through sequencing affect the tertiary protein structure and transcription factor activity, leading to defective cell fate decisions and differentiation of cardiomyocytes, potentially contributing to the development of CHD.
EXPERIMENTAL CELL RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Sreehari M. Nair, Bistra Zheleva, Adriana Dobrzycka, Peter Hesslein, Rajeev Sadanandan, R. Krishna Kumar
Summary: This study reports the early results of a population health program for Congenital Heart Disease (CHD) in Kerala, India, showing that through innovative measures, including a web-based application for real-time registration, referral, and tracking of CHD cases, improvements in early identification, referral, and treatment of infants with CHD have been achieved.
Article
Public, Environmental & Occupational Health
Marie Tindborg, Anders Koch, Mikael Andersson, Klaus Juul, Uka Wilhjelm Geisler, Bolette Soborg, Sascha Wilk Michelsen
Summary: The incidence rates of heart disease (HD) and congenital heart disease (CHD) were compared between young Inuit populations in Greenland and Denmark. It was found that the incidence rate of HD was lower in Greenland compared to Denmark, while the incidence rates of CHD were similar in both countries. Individuals of Inuit/mixed ethnicity had a higher risk of both HD and CHD compared to non-Inuit individuals in both countries.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Medicine, General & Internal
Qun Miao, Sandra Dunn, Shi Wu Wen, Jane Lougheed, Cynthia Maxwell, Jessica Reszel, Kaamel Hafizi, Mark Walker
Summary: This study investigates the interrelationships between maternal socioeconomic status, race, and congenital heart diseases (CHD) among infants. The results suggest that infants born to mothers living in lower-income neighborhoods and neighborhoods with fewer individuals with a university degree have a higher likelihood of developing CHD. Additionally, black mothers have a higher odds of giving birth to a child with CHD. Further research is needed to examine the impact of racial variation on CHD.
Article
Ophthalmology
Sunil Ganekal, Kruthika Singnal, Suresha Rajappa, Sharat Hegde
Summary: This study retrospectively analyzed 50 patients with serologically confirmed Rickettsial disease and found that ocular manifestations were more common in the spotted fever and typhus group. Poor visual outcomes were associated with bilateral involvement, pediatric age group, and CNS involvement.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Genetics & Heredity
Nuha Alrayes, Bayan A. Mallah, Noha M. Issa, Babajan Banaganapalli, Noor Ahmad Shaik, Khalidah K. Nasser, Bandar Ali Alshehri, Zahurul A. Bhuiyan, Amnah Y. Bdier, Jumana Y. Al-Aama
Summary: The study identified a novel heterozygous de novo mutation in the LRP1 gene in TOF patients in Saudi Arabia. This mutation was predicted to be pathogenic and affects the structure and function of the protein. Functional biology data from knock out mouse models confirmed the association of this gene mutation with cardiac defects and lethality. The findings contribute to accurate diagnosis and understanding of the molecular mechanisms and pathophysiology of TOF.
Article
Medicine, General & Internal
Fu Guan, Matthias Gass, Florian Berger, Deniz Akdis, Firat Duru, Thomas Wolber
Summary: This study explored the feasibility and safety of using a fluoroscopy-free or low-dose fluoroscopy approach for transseptal punctures (TSP) in adults with congenital heart disease (ACHD) undergoing left atrial cardiac ablation procedures. By superimposing 3D electroanatomic mapping with cardiac CT anatomy, this protocol proved to be highly effective, feasible and safe in ACHD patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
NEW ENGLAND JOURNAL OF MEDICINE
(2017)
Article
Biochemistry & Molecular Biology
Maria Ban, An Goris, Aslaug R. Lorentzen, Amie Baker, Tania Mihalova, Gillian Ingram, David R. Booth, Robert N. Heard, Graeme J. Stewart, Elke Bogaert, Benedicte Dubois, Hanne F. Harbo, Elisabeth G. Celius, Anne Spurkland, Richard Strange, Clive Hawkins, Neil P. Robertson, Frank Dudbridge, James Wason, Philip L. De Jager, David Hafler, John D. Rioux, Adrian J. Ivinson, Jacob L. McCauley, Margaret Pericak-Vance, Jorge R. Oksenberg, Stephen L. Hauser, David Sexton, Jonathan Haines, Stephen Sawcer, Alastair Compston
EUROPEAN JOURNAL OF HUMAN GENETICS
(2009)
Article
Genetics & Heredity
David R. Booth, Robert N. Heard, Graeme J. Stewart, An Goris, Rita Dobosi, Benedicte Dubois, Aslaug R. Lorentzen, Elisabeth G. Celius, Hanne F. Harbo, Anne Spurkland, Tomas Olsson, Ingrid Kockum, Jenny Link, Jan Hillert, Maria Ban, Amie Baker, Stephen Sawcer, Alastair Compston, Tania Mihalova, Richard Strange, Clive Hawkins, Gillian Ingram, Neil P. Robertson, Philip L. De Jager, David A. Hafler, Lisa F. Barcellos, Adrian J. Ivinson, Margaret Pericak-Vance, Jorge R. Oksenberg, Stephen L. Hauser, Jacob L. McCauley, David Sexton, Jonathan Haines
GENES AND IMMUNITY
(2009)
Article
Genetics & Heredity
M. Ban, J. L. McCauley, R. Zuvich, A. Baker, L. Bergamaschi, M. Cox, A. Kemppinen, S. D'Alfonso, F. R. Guerini, J. Lechner-Scott, F. Dudbridge, J. Wason, N. P. Robertson, P. L. De Jager, D. A. Hafler, L. F. Barcellos, A. J. Ivinson, D. Sexton, J. R. Oksenberg, S. L. Hauser, M. A. Pericak-Vance, J. Haines, A. Compston, S. Sawcer
GENES AND IMMUNITY
(2010)
Article
Multidisciplinary Sciences
Stephen Sawcer, Garrett Hellenthal, Matti Pirinen, Chris C. A. Spencer, Nikolaos A. Patsopoulos, Loukas Moutsianas, Alexander Dilthey, Zhan Su, Colin Freeman, Sarah E. Hunt, Sarah Edkins, Emma Gray, David R. Booth, Simon C. Potter, An Goris, Gavin Band, Annette Bang Oturai, Amy Strange, Janna Saarela, Celine Bellenguez, Bertrand Fontaine, Matthew Gillman, Bernhard Hemmer, Rhian Gwilliam, Frauke Zipp, Alagurevathi Jayakumar, Roland Martin, Stephen Leslie, Stanley Hawkins, Eleni Giannoulatou, Sandra D'alfonso, Hannah Blackburn, Filippo Martinelli Boneschi, Jennifer Liddle, Hanne F. Harbo, Marc L. Perez, Anne Spurkland, Matthew J. Waller, Marcin P. Mycko, Michelle Ricketts, Manuel Comabella, Naomi Hammond, Ingrid Kockum, Owen T. McCann, Maria Ban, Pamela Whittaker, Anu Kemppinen, Paul Weston, Clive Hawkins, Sara Widaa, John Zajicek, Serge Dronov, Neil Robertson, Suzannah J. Bumpstead, Lisa F. Barcellos, Rathi Ravindrarajah, Roby Abraham, Lars Alfredsson, Kristin Ardlie, Cristin Aubin, Amie Baker, Katharine Baker, Sergio E. Baranzini, Laura Bergamaschi, Roberto Bergamaschi, Allan Bernstein, Achim Berthele, Mike Boggild, Jonathan P. Bradfield, David Brassat, Simon A. Broadley, Dorothea Buck, Helmut Butzkueven, Ruggero Capra, William M. Carroll, Paola Cavalla, Elisabeth G. Celius, Sabine Cepok, Rosetta Chiavacci, Francoise Clerget-Darpoux, Katleen Clysters, Giancarlo Comi, Mark Cossburn, Isabelle Cournu-Rebeix, Mathew B. Cox, Wendy Cozen, Bruce A. C. Cree, Anne H. Cross, Daniele Cusi, Mark J. Daly, Emma Davis, Paul I. W. de Bakker, Marc Debouverie, Marie Beatrice D'hooghe, Katherine Dixon, Rita Dobosi, Benedicte Dubois, David Ellinghaus, Irina Elovaara, Federica Esposito, Claire Fontenille, Simon Foote, Andre Franke, Daniela Galimberti, Angelo Ghezzi, Joseph Glessner, Refujia Gomez, Olivier Gout, Colin Graham, Struan F. A. Grant, Franca Rosa Guerini, Hakon Hakonarson, Per Hall, Anders Hamsten, Hans-Peter Hartung, Rob N. Heard, Simon Heath, Jeremy Hobart, Muna Hoshi, Carmen Infante-Duarte, Gillian Ingram, Wendy Ingram, Talat Islam, Maja Jagodic, Michael Kabesch, Allan G. Kermode, Trevor J. Kilpatrick, Cecilia Kim, Norman Klopp, Keijo Koivisto, Malin Larsson, Mark Lathrop, Jeannette S. Lechner-Scott, Maurizio A. Leone, Virpi Leppa, Ulrika Liljedahl, Izaura Lima Bomfim, Robin R. Lincoln, Jenny Link, Jianjun Liu, Aslaug R. Lorentzen, Sara Lupoli, Fabio Macciardi, Thomas Mack, Mark Marriott, Vittorio Martinelli, Deborah Mason, Jacob L. McCauley, Frank Mentch, Inger-Lise Mero, Tania Mihalova, Xavier Montalban, John Mottershead, Kjell-Morten Myhr, Paola Naldi, William Ollier, Alison Page, Aarno Palotie, Jean Pelletier, Laura Piccio, Trevor Pickersgill, Fredrik Piehl, Susan Pobywajlo, Hong L. Quach, Patricia P. Ramsay, Mauri Reunanen, Richard Reynolds, Johnd. Rioux, Mariaemma Rodegher, Sabine Roesner, Justin P. Rubio, Ina-Maria Rueckert, Marco Salvetti, Erika Salvi, Adam Santaniello, Catherine A. Schaefer, Stefan Schreiber, Christian Schulze, Rodney J. Scott, Finn Sellebjerg, Krzysztof W. Selmaj, David Sexton, Ling Shen, Brigid Simms-Acuna, Sheila Skidmore, Patrick M. A. Sleiman, Cathrine Smestad, Per Soelberg Sorensen, Helle Bach Sondergaard, Jim Stankovich, Richard C. Strange, Anna-Maija Sulonen, Emilie Sundqvist, Ann-Christine Syvaenen, Francesca Taddeo, Bruce Taylor, Jenefer M. Blackwell, Pentti Tienari, Elvira Bramon, Ayman Tourbah, Matthew A. Brown, Ewa Tronczynska, Juan P. Casas, Niall Tubridy, Aiden Corvin, Jane Vickery, Janusz Jankowski, Pablo Villoslada, Hugh S. Markus, Kai Wang, Christopher G. Mathew, James Wason, Colin N. A. Palmer, H-Erich Wichmann, Robert Plomin, Ernest Willoughby, Anna Rautanen, Juliane Winkelmann, Michael Wittig, Richard C. Trembath, Jacqueline Yaouanq, Ananth C. Viswanathan, Haitao Zhang, Nicholas W. Wood, Rebecca Zuvich, Panos Deloukas, Cordelia Langford, Audrey Duncanson, Jorge R. Oksenberg, Margaret A. Pericak-Vance, Jonathan L. Haines, Tomas Olsson, Jan Hillert, Adrian J. Ivinson, Philip L. De Jager, Leena Peltonen, Graeme J. Stewart, David A. Hafler, Stephen L. Hauser, Gil McVean, Peter Donnelly, Alastair Compston
Letter
Genetics & Heredity
David R. Booth, Robert N. Heard, Graeme J. Stewart, Mathew Cox, Rodney J. Scott, Jeannette Lechner-Scott, An Goris, Rita Dobosi, Benedicte Dubois, Janna Saarela, Virpi Leppa, Leena Peltonen, Tuula Pirttila, Isabelle Cournu-Rebeix, Bertrand Fontaine, Laura Bergamaschi, Sandra D'Alfonso, Maurizio Leone, Aslaug R. Lorentzen, Hanne F. Harbo, Elisabeth G. Celius, Anne Spurkland, Jenny Link, Ingrid Kockum, Tomas Olsson, Jan Hillert, Maria Ban, Amie Baker, Anu Kemppinen, Stephen Sawcer, Alastair Compston, Neil P. Robertson, Philip L. De Jager, David A. Hafler, Lisa F. Barcellos, Adrian J. Ivinson, Jacob L. McCauley, Margaret A. Pericak-Vance, Jorge R. Oksenberg, Stephen L. Hauser, David Sexton, Jonathan Haines
Article
Genetics & Heredity
A. H. Ramirez, C. M. Shaffer, J. T. Delaney, D. P. Sexton, S. E. Levy, M. J. Rieder, D. A. Nickerson, A. L. George, D. M. Roden
PHARMACOGENOMICS JOURNAL
(2013)
Article
Multidisciplinary Sciences
Rosella Mechelli, Renato Umeton, Claudia Policano, Viviana Annibali, Giulia Coarelli, Vito A. G. Ricigliano, Danila Vittori, Arianna Fornasiero, Maria Chiara Buscarinu, Silvia Romano, Marco Salvetti, Giovanni Ristori
Article
Biochemical Research Methods
Brent G. Richter, David P. Sexton
PLOS COMPUTATIONAL BIOLOGY
(2009)
Article
Genetics & Heredity
Joseph D. Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, Shareef Khalid, Paola G. Bronson, Ariella Sasson, Emily Wong, Daren Liu, J. Wade Davis, Carolina Haefliger, A. Katrina Loomis, Rajesh Mikkilineni, Hyun Ji Noh, Samir Wadhawan, Xiaodong Bai, Alicia Hawes, Olga Krasheninina, Ricardo Ulloa, Alex E. Lopez, Erin N. Smith, Jeffrey F. Waring, Christopher D. Whelan, Ellen A. Tsai, John D. Overton, William J. Salerno, Howard Jacob, Sandor Szalma, Heiko Runz, Gregory Hinkle, Paul Nioi, Slave Petrovski, Melissa R. Miller, Aris Baras, Lyndon J. Mitnaul, Jeffrey G. Reid
Summary: The UK Biobank Exome Sequencing Consortium is a successful collaborative project between UK Biobank and biopharmaceutical companies, providing valuable rare coding variation resources for drug discovery. The project has strengthened academic and industry ties and promoted interaction and learning within the wider research community.
Article
Multidisciplinary Sciences
Magdalena Zimon, Yunfeng Huang, Anthi Trasta, Aliaksandr Halavatyi, Jimmy Z. Liu, Chia-Yen Chen, Peter Blattmann, Bernd Klaus, Christopher D. Whelan, David Sexton, Sally John, Wolfgang Huber, Ellen A. Tsai, Rainer Pepperkok, Heiko Runz
Summary: Studying the contribution of pairs of genes to complex traits has been challenging. Here, the authors combine exome and genotype data with RNAi to screen for genetic interactions between 30 genes identified in lipid GWAS to hint at pairs whose joint modulation may improve lipid-lowering therapies.
NATURE COMMUNICATIONS
(2021)
Article
Cell Biology
Jimmy Z. Liu, Chia-Yen Chen, Ellen A. Tsai, Christopher D. Whelan, David Sexton, Sally John, Heiko Runz
Summary: Through whole-exome sequencing of UK Biobank participants, this study identified BRCA1, BRCA2, ATM, and TET2 as genes associated with human lifespan. Exome sequencing complements GWAS in identifying genes underlying complex traits.
Article
Biochemistry & Molecular Biology
Fergal Casey, Soumya Negi, Jing Zhu, Yu H. Sun, Maria Zavodszky, Derrick Cheng, Dongdong Lin, Sally John, Michelle A. Penny, David Sexton, Baohong Zhang
Summary: With advancements in NGS technologies, there is a growing need for bench scientists to access and analyze the petabytes of transcriptional profiling data deposited in public repositories. OmicsView is an open source analytics and visualization platform that allows users to easily explore and mine expression data across various disease areas. The platform comes preloaded with thousands of samples from the GTEx database, providing researchers with the capability to uncover disease pathology and identify robust biomarkers.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Clinical Neurology
C. Allen, C. Counsell, A. Farrin, A. Al-Chalabi, B. Dickie, P. N. Leigh, C. L. Murphy, C. Payan, G. Reynolds, P. Shaw, I. N. Steen, M. Thornhill, J. Waters, J. Zajicek, P. J. Shaw, C. A. Young, K. E. Morrison, S. Dhariwal, R. Hornabrook, L. Savage, D. J. Burn, T. K. Khoo, J. Kelly, A. Dougherty, L. Wijesekera, C. M. Ellis, K. O'Hanlon, J. Panicker, L. Pate, P. Ray, L. Wyatt, C. A. Young, L. Copeland, J. Ealing, H. Hamdalla, I. Leroi, C. Murphy, F. O'Keeffe, E. Oughton, L. Partington, P. Paterson, D. Rog, A. Sathish, D. Sexton, J. Smith, H. Vanek, S. Dodds, T. L. Williams, J. Clarke, C. Eziefula, R. Howard, R. Orrell, K. Sidle, R. Sylvester, W. Barrett, C. Merritt, K. Talbot, M. R. Turner, C. Whatley, C. Williams, J. Williams, C. Cosby, C. O. Hanemann, I. Imam, C. Phillips, L. Timings, S. E. Crawford, C. Hewamadduma, R. Hibberd, H. Hollinger, C. McDermott, G. Mills, M. Rafiq, A. Taylor, E. Waines, T. Walsh, R. Addison-Jones, J. Birt, M. Hare, T. Majid