Articleposted 2023-11-15 21:07:26
Simultaneous assessment of somatic mutations from multiple biofluids
Luis Diaz, Jr, Caitlin Stewart, Sonya Li, James White, Mitesh Patel, Erika Gedvilaite, and 7 more authors
Under Review
at
Articleposted 2023-10-28 17:29:21
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder
Elena Bacchelli, Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Scaduto, Laura Sandoni, and 10 more authors
Under Revision
at
Brief Communicationposted 2023-10-07 04:01:47
A Call for Increased Inclusivity and Global Representation in Pharmacogenetic Testing
Iris Cohn, April Kennedy, Gabriel Ma, Roozbeh Manshaei, Rebekah Jobling, Raymond Kim, Tamorah Lewis
Under Review
at
Articleposted 2023-10-04 05:14:15
Analysis of Cell-Free DNA to Predict Outcome to Bevacizumab Combination Therapy in Metastatic Colorectal Cancer Patients
Annette Byrne, Tom Venken, Ian Miller, Ingrid Arijs, Valentina Thomas, Ana Barat, Johannes Betge, and 17 more authors
Under Revision
at
Articleposted 2023-09-28 15:31:10
Germline mutations in hereditary breast-ovarian cancer spectrum in Thailand: Results from multi-gene panel testing in 4,567 Thai patients
Manop Pithukpakorn, Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya, Ekkapong Roothumnong, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, and 13 more authors
Under Review
at
Articleposted 2023-08-31 02:31:39
WES-based Screening for Every Newborn - the Future is Now
Ekaterina Tolmacheva, Jekaterina Shubina, Dmitry Maslennikov, Taisiya Kochetkova, Irina Mukosey, Igor Sadelov, Andrey Goltsov, and 23 more authors
Under Review
at
Articleposted 2023-06-27 19:34:41
Curated incidence of lysosomal storage diseases from the Taiwan Biobank
Meng-Ju Melody Tsai, Miao-Zi Hung, Yi-Lin Lin, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Published
at
Articleposted 2023-04-24 22:28:11
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases
Flora Peyvandi, Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Luca Valenti
Published
at
Articleposted 2023-03-29 16:41:11
Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, and 2 more authors
Published
at
Articleposted 2023-01-17 20:16:26
Short and long-read whole genome sequencing explains most undiagnosed Autosomal Dominant Polycystic Kidney Disease
Amali Mallawaarachchi, Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanonvski, Ira Deveson, and 6 more authors
Published
at