Articleposted 2024-08-07 15:19:10
Complex de novo structural variants are an underestimated cause of rare disorders
Raheleh Rahbari, Hyunchul Jung, Tsun-Po Yang, Susan Walker, Petr Danecek, Omar Garcia-Salinas, Matthew D C Neville, and 5 more authors
Under Review
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Articleposted 2024-07-26 17:12:32
View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children
Claire Caillot, Etienne Javouhey, Stephane HAYS, Evan GOUY, Pauline Monin, Gaetan Lesca, Damien Sanlaville, and 1 more authors
Under Revision
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Articleposted 2024-06-14 05:33:08
Maximizing the Benefits of WES Data for Clinical Diagnosis of individuals with Differences/Variations of Sex Development
Isabel von der Decken, Daniel Rodríguez Gutiérrez, Patrick Sproll, Lennart Opitz, Brian Stevenson, Hamid Azimi, Mariarosaria Lang-Muritano, and 8 more authors
Posted
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Articleposted 2024-05-14 17:48:58
Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients
Kunka Kamenarova, Darina Kachakova-Yordanova, Magdalena Baymakova, Martin Georgiev, Kalina Mihova, Veronika Petkova, Olga Beltcheva, and 23 more authors
Published
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Articleposted 2024-03-21 17:45:43
An Association of SLC2A9 variant rs7442295 with Uric Acid at Baseline and in Interaction with Iloperidone
Sandra P. Smieszek, Sean R. Chadwick, Emily L. Czeisler, Rosarelis Torres, Haimeng Bai, Changfu Xiao, Christos Polymeropoulos, and 2 more authors
Posted
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Articleposted 2024-01-09 19:50:59
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility
Birgit Stallmeyer, Clara Bühlmann, Rytis Stakaitis, Ann-Kristin Dicke, Farah Ghieh, Luisa Meier, Ansgar Zoch, and 24 more authors
Published
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Articleposted 2024-01-08 19:35:43
TET2 and clonal hematopoiesis-related gene variants in patients with acquired pure red cell aplasia
Fumihiro Ishida, Toru Kawakami, Fumihiro Kawakami, Shuji Matsuzawa, Taku Yamane, Yuga Mizuno, Ami Asakura, and 8 more authors
Posted
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Articleposted 2024-01-03 03:39:21
RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
Charles Ryan, Samantha Regan, Yao-Chang Tsan, Eleanor Mills, Emily Gong, Yi-Ting Lai, Jason Sheingold, and 5 more authors
Published
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Articleposted 2023-12-08 18:16:21
Redefining copy number variation and single-nucleotide polymorphism counting via novel concepts based on recent PCR enhancements.
Byoung Chul Park, Jae Jong Kim, Hyoung-Min Park, A. Young Kyoung, Si-Kyu Lim, J. Eugene Lee
Posted
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Articleposted 2023-11-30 18:21:38
Precision Diagnosis of Chronic Kidney Disease: Genetics Makes the Difference
Maria del Mar Del Aguila Garcia, Antonio M Poyatos Andujar, Ana I Morales Garcia, Maria Luz Bellido Diaz, Maria del Carmen Velazquez de Castro del Pino, Juan Antonio Bravo Soto, Rafael J Esteban de la Rosa
Posted
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