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Fast and efficient QTL mapper for thousands of molecular phenotypes

Ongen, Halit ; Buil, Alfonso ; Brown, Andrew Anand ; Dermitzakis, Emmanouil T. ; Delaneau, Olivier

In: Bioinformatics, 2016, vol. 32, no. 10, p. 1479-1485

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

Hu, Liyan ; Pandey, Amit ; Balmer, Cécile ; Eggimann, Sandra ; Rüfenacht, Véronique ; Nuoffer, Jean-Marc ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 815-827

50years forward: beta cells

Halban, Philippe

In: Diabetologia, 2015, vol. 58, no. 8, p. 1688-1692

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

In vivo epigenetic reprogramming of primary human colon cancer cells enhances metastases

Singovski, Grigori ; Bernal, Carolina ; Kuciak, Monika ; Siegl-Cachedenier, Irene ; Conod, Arwen ; Ruiz i Altaba, Ariel

In: Journal of Molecular Cell Biology, 2016, vol. 8, no. 2, p. 157-173

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

Stäubli, Andrina ; Capatina, Nadejda ; Fuhrer, Yvonne ; Munier, Francis L. ; Labs, Stephan ; Schorderet, Daniel F. ; Tiwari, Amit ; Verrey, Francois ; Heon, Elise ; Cheng, Ching-Yu ; Wong, Tien-Yin ; Berger, Wolfgang ; Camargo, Simone M R. ; Kloeckener-Gruissem, Barbara

In: Human Molecular Genetics, 2017, vol. 26, no. 21, p. 4203-4214

Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort

Viñuela, Ana ; Brown, Andrew A. ; Buil, Alfonso ; Tsai, Pei-Chien ; Davies, Matthew N. ; Bell, Jordana T. ; Dermitzakis, Emmanouil T. ; Spector, Timothy D. ; Small, Kerrin S.

In: Human Molecular Genetics, 2018, vol. 27, no. 4, p. 732-741

MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets

Fort, Alexandre ; Panousis, Nikolaos I. ; Garieri, Marco ; Antonarakis, Stylianos E. ; Lappalainen, Tuuli ; Dermitzakis, Emmanouil T. ; Delaneau, Olivier ; Stegle, Oliver ; Stegle, Oliver

In: Bioinformatics, 2017, vol. 33, no. 12, p. 1895-1897

A standard numbering scheme for class c β-lactamases

Mack, Andrew R. ; Barnes, Melissa D. ; Taracila, Magdalena A. ; Hujer, Andrea M. ; Hujer, Kristine M. ; Cabot, Gabriel ; Feldgarden, Michael ; Haft, Daniel H. ; Klimke, William ; Akker, Focco van den ; Vila, Alejandro J. ; Smania, Andrea ; Haider, Shozeb ; Papp-Wallace, Krisztina M. ; Bradford, Patricia A. ; Rossolini, Gian Maria ; Docquier, Jean-Denis ; Frère, Jean-Marie ; Galleni, Moreno ; Hanson, Nancy D. ; Oliver, Antonio ; Plésiatyz, Patrick ; Poirel, Laurent ; Nordmann, Patrice ; Palzkill, Timothy G. ; Jacoby, George A. ; Bush, Karen ; Bonomo, Robert A.

In: Antimicrobial Agents and Chemotherapy, 2020, vol. 64, no. 3, p. -

Unlike for classes A and B, a standardized amino acid numbering scheme has not been proposed for the class C (AmpC) β-lactamases, which complicates communication in the field. Here, we propose a scheme developed through a collaborative approach that considers both sequence and structure, preserves traditional numbering of catalytically important residues (Ser64, Lys67, Tyr150, and Lys315),...

PAIN with and without PAR: variants for third-spin assisted heteronuclear polarization transfer

Agarwal, Vipin ; Sardo, Mariana ; Scholz, Ingo ; Böckmann, Anja ; Ernst, Matthias ; Meier, Beat

In: Journal of Biomolecular NMR, 2013, vol. 56, no. 4, p. 365-377