Quantitative analysis of population-scale family trees with millions of relatives von Kaplanis, Joanna, Gordon, Assaf, Shor, Tal, Weissbrod, Omer, Geiger, Dan, Wahl, Mary, Gershovits, Michael, Markus, Barak, Sheikh, Mona, Gymrek, Melissa, Bhatia, Gaurav, MacArthur, Daniel G, Price, Alkes L, Erlich, Yaniv

Volltext

Abundant contribution of short tandem repeats to gene expression variation in humans von Gymrek, Melissa, Willems, Thomas, Guilmatre, Audrey, Zeng, Haoyang, Markus, Barak, Georgiev, Stoyan, Daly, Mark J, Price, Alkes L, Pritchard, Jonathan K, Sharp, Andrew J, Erlich, Yaniv

Volltext

Protein recognition by a pattern-generating fluorescent molecular probe von Pode, Zohar, Peri-Naor, Ronny, Georgeson, Joseph M., Ilani, Tal, Kiss, Vladimir, Unger, Tamar, Markus, Barak, Barr, Haim M., Motiei, Leila, Margulies, David

Volltext

Mechanotransduction via the LINC complex regulates DNA replication in myonuclei von Wang, Shuoshuo, Stoops, Elizabeth, Cp, Unnikannan, Markus, Barak, Reuveny, Adriana, Ordan, Elly, Volk, Talila

Volltext

OTX2 duplication is implicated in hemifacial microsomia von Zielinski, Dina, Markus, Barak, Sheikh, Mona, Gymrek, Melissa, Chu, Clement, Zaks, Marta, Srinivasan, Balaji, Hoffman, Jodi D, Aizenbud, Dror, Erlich, Yaniv

Volltext

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size von Kadir, Rotem, Harel, Tamar, Markus, Barak, Perez, Yonatan, Bakhrat, Anna, Cohen, Idan, Volodarsky, Michael, Feintsein-Linial, Miora, Chervinski, Elana, Zlotogora, Joel, Sivan, Sara, Birnbaum, Ramon Y, Abdu, Uri, Shalev, Stavit, Birk, Ohad S

Volltext

mRNA-seq whole transcriptome profiling of fresh frozen versus archived fixed tissues von Bossel Ben-Moshe, Noa, Gilad, Shlomit, Perry, Gili, Benjamin, Sima, Balint-Lahat, Nora, Pavlovsky, Anya, Halperin, Sharon, Markus, Barak, Yosepovich, Ady, Barshack, Iris, Gal-Yam, Einav Nili, Domany, Eytan, Kaufman, Bella, Dadiani, Maya

Volltext

Genomic structural plasticity of rodent‐associated Bartonella in nature von Sousa, Keyla Carstens Marques, Gutiérrez, Ricardo, Yahalomi, Dayana, Shalit, Tali, Markus, Barak, Nachum‐Biala, Yaarit, Hawlena, Hadas, Marcos‐Hadad, Evgeniya, Hazkani‐Covo, Einat, Rezende Neves, Haroldo Henrique, Covo, Shay, Harrus, Shimon

Volltext

Divergence of mutational signatures in association with breast cancer subtype von Perry, Gili, Dadiani, Maya, Kahana‐Edwin, Smadar, Pavlovski, Anya, Markus, Barak, Hornung, Gil, Balint‐Lahat, Nora, Yosepovich, Ady, Hout‐Siloni, Goni, Jacob‐Hirsch, Jasmine, Sklair‐Levy, Miri, Friedman, Eitan, Barshack, Iris, Kaufman, Bella, Gal‐Yam, Einav Nili, Paluch‐Shimon, Shani

Volltext

Three interacting genomic loci incorporating two novel mutations underlie the evolution of diet-induced diabetes von Yagil, Yoram, Markus, Barak, Kohen, Refael, Yagil, Chana

Volltext

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe von Wormser, Ohad, Gradstein, Libe, Kadar, Einat, Yogev, Yuval, Perez, Yonatan, Mashkit, Elena, Elbedour, Khalil, Drabkin, Max, Markus, Barak, Kadir, Rotem, Halperin, Daniel, Khalaila, Soltan, Levy, Jaime, Lifshitz, Tova, Manor, Esther, Birk, Ohad S.

Volltext

Bartonella kosoyi sp. nov. and Bartonella krasnovii sp. nov., two novel species closely related to the zoonotic Bartonella elizabethae, isolated from black rats and wild desert rod... von Gutierrez, Ricardo, Shalit, Tali, Markus, Barak, Yuan, Congli, Nachum-Biala, Yaarit, Elad, Daniel, Harrus, Shimon

Volltext

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta von Volodarsky, Michael, Markus, Barak, Cohen, Idan, Staretz-Chacham, Orna, Flusser, Hagit, Landau, Daniella, Shelef, Ilan, Langer, Yshaia, Birk, Ohad S.

Volltext

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) von Feinstein, Miora, Flusser, Hagit, Lerman-Sagie, Tally, Ben-Zeev, Bruria, Lev, Dorit, Agamy, Orly, Cohen, Idan, Kadir, Rotem, Sivan, Sara, Leshinsky-Silver, Esther, Markus, Barak, Birk, Ohad S

Volltext

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1 von Markus, Barak, Narkis, Ginat, Landau, Daniella, Birk, Ruth Z., Cohen, Idan, Birk, Ohad S.

Volltext

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation von Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S

Volltext

Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc von Tee, Meng Kian, Abramsohn, Michal, Loewenthal, Neta, Harris, Mark, Siwach, Sudeep, Kaplinsky, Ana, Markus, Barak, Birk, Ohad, Sheffield, Val C, Pavari, Ruti, Hershkovitz, Eli, Miller, Walter L

Volltext

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation von Feinstein, Miora, Markus, Barak, Noyman, Iris, Shalev, Hannah, Flusser, Hagit, Shelef, Ilan, Liani-Leibson, Keren, Shorer, Zamir, Cohen, Idan, Khateeb, Shareef, Sivan, Sara, Birk, Ohad S.

Volltext

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A von Fine, Dina, Flusser, Hagit, Markus, Barak, Shorer, Zamir, Gradstein, Libe, Khateeb, Shareef, Langer, Yshia, Narkis, Ginat, Birk, Ruth, Galil, Aharon, Shelef, Ilan, Birk, Ohad S

Volltext

Prophage-Driven Genomic Structural Changes Promote Bartonella Vertical Evolution von Gutiérrez, Ricardo, Markus, Barak, Carstens Marques de Sousa, Keyla, Marcos-Hadad, Evgeniya, Mugasimangalam, Raja C, Nachum-Biala, Yaarit, Hawlena, Hadas, Covo, Shay, Harrus, Shimon

Volltext