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WDQS | PetScan | TABernacle | Find images Recent changes | Query: SELECT DISTINCT ?item WHERE { ?statement prov:wasDerivedFrom/pr:P248 ?item . ?item wdt:P50 ?author ; wdt:P932 [] . ?author wdt:P21 wd:Q6581072 ; wdt:P496 ?orcid . [] wdt:P2860 ?item . FILTER NOT EXISTS { ?item wdt:P921 [] } } #GROUP BY ?item #HAVING (COUNT(DISTINCT ?statement) > 10) LIMIT 100
Article author published in DOI copyright license
Bellerophon: a hybrid method for detecting interchromosomal rearrangements at base pair resolution using next-generation sequencing data Jing Li BMC Bioinformatics 10.1186/1471-2105-14-S5-S6
The worldwide holoparasitic Apodanthaceae confidently placed in the Cucurbitales by nuclear and mitochondrial gene trees Natalia Filipowicz
Susanne Renner
BMC Evolutionary Biology 10.1186/1471-2148-10-219 Creative Commons Attribution 2.0 Generic
A new Australian species of Luffa (Cucurbitaceae) and typification of two Australian Cucumis names, all based on specimens collected by Ferdinand Mueller in 1856 Susanne Renner
Werner Greuter
PhytoKeys 10.3897/PHYTOKEYS.5.1395
Resurrection of the genus Staphisagria J. Hill, sister to all the other Delphinieae (Ranunculaceae) Susanne Renner
Florian Jabbour
PhytoKeys 10.3897/PHYTOKEYS.7.2010
Mass spectrometric analysis of the human 40S ribosomal subunit: native and HCV IRES-bound complexes Jennifer Doudna Protein Science 10.1110/PS.041293005
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. Christine Petit
Jun Wang
PLOS ONE 10.1371/JOURNAL.PONE.0069549
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 Christine Petit
James Lespinasse
Slawomir Wolczynski
Jean-Pierre Hardelin
PLOS Genetics 10.1371/JOURNAL.PGEN.0020175
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome Friedhelm Hildebrandt
Christine Petit
Edgar A. Otto
American Journal of Human Genetics 10.1086/513322
Distribution models and species discovery: the story of a new Solanum species from the Peruvian Andes Sandra Knapp
Paúl Gonzáles
Tiina E. Särkinen
PhytoKeys 10.3897/PHYTOKEYS.31.6312
Two new non-spiny Solanum species from the Bolivian Andes (Morelloid Clade) Sandra Knapp
Tiina E. Särkinen
PhytoKeys 10.3897/PHYTOKEYS.47.4423
The Legionella Kinase LegK2 Targets the ARP2/3 Complex To Inhibit Actin Nucleation on Phagosomes and Allow Bacterial Evasion of the Late Endocytic Pathway Céline Michard
Anne Vianney
Christophe Gilbert
Mathias Faure
Pascale Cossart
mBio 10.1128/MBIO.00354-15
Structural basis for the inhibition of activin signalling by follistatin. Brandon T. Ruotolo
Carol V. Robinson
Shin-ichi Ohnuma
The EMBO Journal 10.1038/SJ.EMBOJ.7601000
Septins regulate bacterial entry into host cells Pascale Cossart
Javier Pizarro-Cerdá
Serge Mostowy
Stephanie Boisson-Dupuis
PLOS ONE 10.1371/JOURNAL.PONE.0004196
Subunit architecture of multimeric complexes isolated directly from cells. Andrzej Dziembowski
Bertrand Séraphin
Carol V. Robinson
EMBO Reports 10.1038/SJ.EMBOR.7400702
Protein complexes are under evolutionary selection to assemble via ordered pathways Joseph A. Marsh
Zoe Hall
Tina Perica
Carol V. Robinson
Sarah Teichmann
Cell 10.1016/J.CELL.2013.02.044
TGFβ1-induced Baf60c regulates both smooth muscle cell commitment and quiescence Fulvia Ferrazzi
Aernout Luttun
Danny Huylebroeck
Catherine Verfaillie
PLOS ONE 10.1371/JOURNAL.PONE.0047629
EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction. Sebastian Brachs
Sylvane Desrivières
Alexandra Schambony
Volker Eulenburg
Martin Reichel
Tianye Jia
Joachim Spranger
Beate Winner
Verena Rauschenberger
Arun L W Bokde
Herta Flor
Vincent Frouin
Tomáš Paus
Molecular Psychiatry 10.1038/MP.2017.63
The C-terminal domains of human TNRC6A, TNRC6B, and TNRC6C silence bound transcripts independently of Argonaute proteins Elisa Izaurralde
Daniela Lazzaretti
RNA 10.1261/RNA.1606309
CRM1-mediated recycling of snurportin 1 to the cytoplasm Efrosyni Paraskeva
Dirk Görlich
Elisa Izaurralde
Journal of Cell Biology 10.1083/JCB.145.2.255
LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells. Pamela J. Bjorkman Proceedings of the National Academy of Sciences of the United States of America 10.1073/PNAS.1613916114
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome Axel Schambach
Peter Robinson
Stefan Mundlos
Christian J Braun
Eric P. Hanson
Peter Krawitz
Susan Moir
Petra Schwille
Gulbu Uzel
Journal of Experimental Medicine 10.1084/JEM.20111229
The worldwide variation in avian clutch size across species and space Katrin Böhning-Gaese
Walter Jetz
Çağan Hakkı Şekercioğlu
PLOS Biology 10.1371/JOURNAL.PBIO.0060303
A spontaneous, recurrent mutation in divalent metal transporter-1 exposes a calcium entry pathway Louis J De Felice
Nancy Andrews
David E Clapham
PLOS Biology 10.1371/JOURNAL.PBIO.0020050
Building from the HIV Response toward Universal Health Coverage. Agnes Binagwaho
Peter Piot
Mark Dybul
Jonathan D. Quick
PLOS Medicine 10.1371/JOURNAL.PMED.1002083
Model for the exceptional reactivity of peroxiredoxins 2 and 3 with hydrogen peroxide: a kinetic and computational study Leo Radom
Christine Coe Winterbourn
Journal of Biological Chemistry 10.1074/JBC.M111.232355
EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib Harold E. Varmus
William Pao
Lucinda Fulton
Elaine Mardis
Mark G Kris
Valerie W Rusch
Katerina Politi
Proceedings of the National Academy of Sciences of the United States of America 10.1073/PNAS.0405220101
Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. Elaine Mardis
Timothy A. Graubert
Journal of the American Medical Association 10.1001/JAMA.2011.497
Activating HER2 mutations in HER2 gene amplification negative breast cancer Elaine Mardis
Adam Searleman
Cancer Discovery 10.1158/2159-8290.CD-12-0349
Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Robert Huether
Ruth G. Tatevossian
Cyriac Kandoth
Denise Sheer
Charles G. Mullighan
Ryan Lee
Elaine Mardis
Nature Genetics 10.1038/NG.2611
FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer Anita Grigoriadis
Andrew Tutt
Cheryl Gillett
Rachael Natrajan
Elizabeth Iorns
Alan Ashworth
Jorge Reis-Filho
Cancer Research 10.1158/0008-5472.CAN-09-3746
Experience-dependent coincident expression of the effector immediate-early genes arc and Homer 1a in hippocampal and neocortical neuronal networks Carol A. Barnes
Bruce McNaughton
Journal of Neuroscience 10.1523/JNEUROSCI.22-23-10067.2002
Verge: a novel vascular early response gene Armin Schneider
Carol A. Barnes
Journal of Neuroscience 10.1523/JNEUROSCI.4252-03.2004
miR-21 and miR-214 are consistently modulated during renal injury in rodent models Reuven Agami
Anna Dominiczak
The American Journal of Pathology 10.1016/J.AJPATH.2011.04.021
Architecture of human translation initiation factor 3. Eva Nogales
Jamie H. D. Cate
Structure 10.1016/J.STR.2013.04.002
A physical and regulatory map of host-influenza interactions reveals pathways in H1N1 infection Aviv Regev
Nir Hacohen
David E Root
Cell 10.1016/J.CELL.2009.12.018
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing Aviv Regev
Kerstin Lindblad-Toh
Eric Lander
Andreas Gnirke
Corinne Antignac
Matthew DeFelice
Brendan Blumenstiel
Kristian Cibulskis
Carrie Sougnez
Stacey Gabriel
Melissa Parkin
Petr Vyletal
Snaevar Sigurdsson
Helena Hůlková
Nathalie Pochet
Chad Nusbaum
Mark Joseph Daly
Mitchell Guttman
Nature Genetics 10.1038/NG.2543
Reconstructing and reprogramming the tumor-propagating potential of glioblastoma stem-like cells. Aviv Regev
Itay Tirosh
Shawn M. Gillespie
Alex K. Shalek
Daniel P Cahill
Brian V. Nahed
Samuel D Rabkin
Orit Rozenblatt-Rosen
Robert L Martuza
Cell 10.1016/J.CELL.2014.02.030
Structural basis for molecular recognition and presentation of histone H3 by WDR5 Masoud Vedadi
Peter Loppnau
Alexey Bochkarev
Abdellah Allali-Hassani
Cheryl Arrowsmith
The EMBO Journal 10.1038/SJ.EMBOJ.7601316
Gain-of-function p53 mutants co-opt chromatin pathways to drive cancer growth. Jiajun Zhu
Jing Huang
Shelley L. Berger
Cheryl Arrowsmith
Dalia Barsyte-Lovejoy
Nature 10.1038/NATURE15251
Direct interaction between the PRDM3 and PRDM16 tumor suppressors and the NuRD chromatin remodeling complex Panagis Filippakopoulos
Cheryl Arrowsmith
Nucleic Acids Research 10.1093/NAR/GKY1192
Genetic variants associated with disordered eating Sarah E. Medland
Grant W. Montgomery
Nick Martin
Cynthia M. Bulik
Andrew C. Heath
International Journal of Eating Disorders 10.1002/EAT.22133
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. James McCluskey
Jamie Rossjohn
Anne Puel
Jean-Laurent Casanova
Capucine Picard
Jean-Pierre de Villartay
Federica Sallusto
Cecilia S. Lindestam Arlehamn
Egídio Torrado
Cindy S Ma
Bertrand Boisson
Stephanie Boisson-Dupuis
Sylvain Latour
Despina Moshous
Peter D Arkwright
Laurent Abel
Satoshi Okada
Jacinta Bustamante
Andrea M. Cooper
Fabienne Jabot-Hanin
Janet G Markle
Mélanie Migaud
Caroline Deswarte
Claire Soudais
Olivier Lantz
Daniela Latorre
Alessandro Sette
Science 10.1126/SCIENCE.AAA4282
The Human Cell Atlas. Ewan Birney
Ian Dunham
John C Marioni
Oliver Stegle
Aviv Regev
Piero Carninci
Bart Deplancke
Wolfgang Enard
Berthold Gottgens
Muzlifah Haniffa
Ed S Lein
Martijn C Nawijn
Chris Ponting
Joshua R. Sanes
Rahul Satija
Ton Schumacher
Mathias Uhlén
Allon Wagner
Fiona Watt
Jonathan Weissman
Nir Yosef
Mihai Netea
Stephen Quake
Sarah Teichmann
Fabian J. Theis
Eric Lander
Jay W Shin
Orit Rozenblatt-Rosen
Martin Hemberg
Sten Linnarsson
Michael J T Stubbington
Menna R Clatworthy
Amir Giladi
Alex K. Shalek
Dana Pe'er
Hans Clevers
Garry P Nolan
Musa Mhlanga
Partha P Majumder
Barbara J. Wold
Roland Eils
Lars Fugger
Bernd Bodenmiller
Nir Hacohen
Alexander van Oudenaarden
Arnold Kriegstein
eLife 10.7554/ELIFE.27041
Molecular basis for DPY-30 association to COMPASS-like and NURF complexes Janet Thornton
Ali Shilatifard
Georgios Skiniotis
Structure 10.1016/J.STR.2014.10.002
Phenotypic switching induced by damaged matrix is associated with DNA methyltransferase 3A (DNMT3A) activity and nuclear localization in smooth muscle cells (SMC) Shoshana Wodak PLOS ONE 10.1371/JOURNAL.PONE.0069089
Regulation of p53 stability and function by the deubiquitinating enzyme USP42 Karen Vousden The EMBO Journal 10.1038/EMBOJ.2011.419
Blockade of neuropeptide Y(2) receptors and suppression of NPY's anti-epileptic actions in the rat hippocampal slice by BIIE0246 Annette Gabriele Beck-Sickinger British Journal of Pharmacology 10.1038/SJ.BJP.0704751
Cocaine withdrawal causes delayed dysregulation of stress genes in the hippocampus Huda Akil PLOS ONE 10.1371/JOURNAL.PONE.0042092
Allosteric effects of the oncogenic RasQ61L mutant on Raf-RBD Ruth Nussinov
Buyong Ma
Structure 10.1016/J.STR.2014.12.017
GTP-Dependent K-Ras Dimerization Attila Gursoy
Vadim Gaponenko
Ruth Nussinov
Hyunbum Jang
Özlem Keskin
Serena Muratcioglu
Structure 10.1016/J.STR.2015.04.019
Cancer vulnerabilities unveiled by genomic loss Jill P. Mesirov
Sangeeta N. Bhatia
William C Hahn
Aviad Tsherniak
David E Root
Glenn S Cowley
Barbara A Weir
Rameen Beroukhim
Cell 10.1016/J.CELL.2012.07.023
Membrane trafficking. Nucleoside diphosphate kinases fuel dynamin superfamily proteins with GTP for membrane remodeling Uwe Schlattner
Philippe Chavrier
Graça Raposo
Science 10.1126/SCIENCE.1253768
Isolation, subunit composition and interaction of the NDH-1 complexes from Thermosynechococcus elongatus BP-1 Eva-Mari Aro Biochemical Journal 10.1042/BJ20050390
Heterozygous mutations of OTX2 cause severe ocular malformations Veronica van Heyningen
Juan Pedro Martinez-Barbera
David R. FitzPatrick
Isabel Hanson
American Journal of Human Genetics 10.1086/430721
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects Veronica van Heyningen
Martin S. Taylor
Andrew Oliver Mungo Wilkie
David R. FitzPatrick
Carl A Anderson
Alain Verloes
American Journal of Human Genetics 10.1016/J.AJHG.2014.01.001
Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Veronica van Heyningen American Journal of Human Genetics
An African-specific polymorphism in the TP53 gene impairs p53 tumor suppressor function in a mouse model Xuting Wang
Maureen Murphy
Genes & Development 10.1101/GAD.275891.115
Three myosin V structures delineate essential features of chemo-mechanical transduction Anne Houdusse-Juillé The EMBO Journal 10.1038/SJ.EMBOJ.7600458
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1) Anne Houdusse-Juillé
Alain Fischer
Geneviève de Saint Basile
Gael Ménasche
Journal of Clinical Investigation 10.1172/JCI18264
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. André Uitterlinden
Bertram Müller-Myhsok
Kristiina Aittomäki
Georgia Chenevix-Trench
Heli Nevanlinna
Stefan Nickels
Valerie Gaborieau
Paul Brennan
Nazneen Rahman
Albert Hofman
Diether Lambrechts
Peter Lichtner
Hoda Anton-Culver
Alan Ashworth
Jolanta Lissowska
Jenny Chang-Claude
Pierre Laurent-Puig
Veli-Matti Kosma
Vesa Kataja
Arja Jukkola-Vuorinen
Katarzyna Durda
Arto Mannermaa
Pascal Guénel
Kyriaki Michailidou
Dieter Flesch-Janys
Katri Pylkäs
Thérèse Truong
Robert Winqvist
Antoinette Hollestelle
Andreas Schneeweiss
Maya Ghoussaini
Kamila Czene
Caroline Seynaeve
Thilo Dörk
Quinten Waisfisz
Florence Menegaux
Hanne Meijers-Heijboer
Astrid Irwanto
Peter Devilee
Paolo Peterlongo
Barbara Burwinkel
Hiltrud Brauch
Loic Le Marchand
Artitaya Lophatananon
Sandra Deming-Halverson
France Labrèche
Kenneth Muir
Australian Ovarian Cancer Study Group
kConFab Investigators
Børge G. Nordestgaard
Joe Dennis
Jose Ignacio Arias Perez
Anja Rudolph
Zoe Aitken
Matthieu Moisse
Taru A Muranen
Tuomas Heikkinen
Jaana M Hartikainen
Gillian S Dite
Martha J. Shrubsole
Anna González-Neira
Siranoush Manoukian
Jennifer Stone
Mikael Hartman
Jingmei Li
Isabel dos Santos Silva
Angela Cox
Simon S. Cross
Marjanka K Schmidt
Paolo Radice
Gianluca Severi
Alison Dunning
Melissa C. Southey
Robert N. Luben
Keitaro Matsuo
Graham G. Giles
Hermann Brenner
Rob B van der Luijt
Anna Jakubowska
Anna Marie Mulligan
Olivia Fletcher
Anthony Swerdlow
Stephen Chanock
Paul D P Pharoah
Jan Lubiński
Julian Peto
Per Hall
Arif B. Ekici
Alfons Meindl
Rita Schmutzler
Douglas F. Easton
Fergus J. Couch
Louise A. Brinton
Peter A. Fasching
John L. Hopper
Roger L. Milne
Ute Hamann
Keith Humphreys
Fredrick Schumacher
Annika Lindblom
Jacques Simard
Irene L Andrulis
Vessela Kristensen
Wei Zheng
Qiuyin Cai
Ellen van der Schoot
Jonine Figueroa
Christi J van Asperen
Amanda Ewart Toland
Hidemi Ito
David Van Den Berg
Javier Benitez
Volker Arndt
Sara Margolin
Matthias W. Beckmann
Stig Egil Bojesen
Florentia Fostira
Clare Turnbull
Christopher A. Haiman
Carl Blomqvist
Annegien Broeks
Gord Glendon
Brian E. Henderson
Xiao-Ou Shu
Xianshu Wang
Sarah Stewart-Brown
Yu-Tang Gao
Chen-Yang Shen
Daehee Kang
Laura Baglietto
Henrik Flyger
Ian Tomlinson
Malcolm W. R. Reed
Suleeporn Sangrajrang
Nichola Johnson
Maartje J. Hooning
Jianjun Liu
David J. Hunter
Natalia V. Bogdanova
Elinor J. Sawyer
Celine M. Vachon
Julia A. Knight
Dong-Young Noh
Nick Orr
Christa Stegmaier
Carmel Apicella
Thomas Brüning
Marie-Rose Christiaens
Frederik Marmé
Nature Genetics 10.1038/NG.2563
A human immunodeficiency caused by mutations in the PIK3R1 gene. Capucine Picard
Alain Fischer
Marina Cavazzana-Calvo
Christine Bôle-Feysot
Patrick Nitschké
Lucie Heurtier
Anne Durandy
Journal of Clinical Investigation 10.1172/JCI75746
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nazneen Rahman
Jaime Patricio Barros-Núñez
Anna Elliott
David R. FitzPatrick
Elise Ruark
Nature Genetics 10.1038/NG.822
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer Nazneen Rahman
Timothy Bishop
Douglas F. Easton
Clare Turnbull
Michael Stratton
Anthony Renwick
Nature Genetics 10.1038/NG.607
Exome sequencing identifies the cause of a mendelian disorder Jay Shendure
Ethylin Wang Jabs
Nature Genetics 10.1038/NG.499
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene Gary Bellus
W Jiang
Wen G. Jiang
Ethylin Wang Jabs
American Journal of Human Genetics 10.1086/302275
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Ethylin Wang Jabs American Journal of Human Genetics 10.1086/301855
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia Bernd Wollnik
Ethylin Wang Jabs
American Journal of Human Genetics 10.1086/346090
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Ethylin Wang Jabs American Journal of Human Genetics 10.1086/302420
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice Caroline Robson
David G. Hunter
Ethylin Wang Jabs
American Journal of Human Genetics 10.1016/J.AJHG.2012.05.018
Cdt1 associates dynamically with chromatin throughout G1 and recruits Geminin onto chromatin Stavros Taraviras
Hideo Nishitani
Zoi Lygerou
The EMBO Journal 10.1038/SJ.EMBOJ.7601597
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts Allen James Wilcox
Ethylin Wang Jabs
Kaare Christensen
American Journal of Medical Genetics 10.1002/AJMG.A.35257
Role for Traf4 in polarizing adherens junctions as a prerequisite for efficient cell shape changes Sam J Mathew
Maria Leptin
Molecular and Cellular Biology 10.1128/MCB.05542-11
The L1TD1 protein interactome reveals the importance of post-transcriptional regulation in human pluripotency. Laura L. Elo
Elisa Närvä
Aki Stubb
Deepankar Chakroborty
Anne Rokka
Robert Moulder
Ras Trokovic
Riikka Lund
Riitta Lahesmaa
Stem Cell Reports 10.1016/J.STEMCR.2015.01.014
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. Heli Nevanlinna
Katarzyna Durda
Georgia Chenevix-Trench
Quinten Waisfisz
Paolo Peterlongo
Peter Devilee
Raymonda Varon-Mateeva
Marie-Agnès Collonge-Rame
Isabelle Mortemousque
Roderic Guigó i Serra
Cezary Cybulski
Alvaro Aytes
Carla B. Ripamonti
Sylvain V. Costes
Elisabet Guinó
Adriana Lasa
Ander Urruticoechea
Tuomas Heikkinen
Sylvie Mazoyer
Norbert Arnold
Hans Ehrencrona
Bernard Peissel
Maria Adelaide Caligo
Joan Brunet
Alessandra Viel
Siranoush Manoukian
Ana Osorio
Ignacio Blanco
Katherine L Nathanson
Paolo Radice
Amanda B. Spurdle
Víctor Moreno
Rosalind Eeles
Melissa C. Southey
Gareth Evans
Rob B van der Luijt
Anna Jakubowska
Susan M Domchek
Diana Eccles
Jan Lubiński
Lesley McGuffog
Barbara Wappenschmidt
Alfons Meindl
Rita Schmutzler
Douglas F. Easton
Jonathan Beesley
Fergus J. Couch
Ute Hamann
Kenneth Offit
Debra Frost
Xianshu Wang
Esther M. John
Gad Rennert
Antonis C Antoniou
Yael Laitman
Eitan Friedman
Bohdan Górski
PLOS Biology 10.1371/JOURNAL.PBIO.1001199
Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study. Georgia Chenevix-Trench
Heli Nevanlinna
Alan Ashworth
Jolanta Lissowska
Jenny Chang-Claude
Pascal Guénel
Dieter Flesch-Janys
Thérèse Truong
Montserrat García-Closas
Kamila Czene
Florence Menegaux
Hiltrud Brauch
Mikael Eriksson
Minouk J Schoemaker
Gianluca Severi
Melissa C. Southey
Graham G. Giles
Anna Marie Mulligan
Anthony Swerdlow
Stephen Chanock
Per Hall
Douglas F. Easton
Fergus J. Couch
Irene L Andrulis
Anja Rudolph
kConFab Investigators
Jonine Figueroa
Gord Glendon
Laura Baglietto
Jianjun Liu
David J. Hunter
Celine M. Vachon
Peter Kraft
Julia A. Knight
Janet E. Olson
Thomas Brüning
Endocrine-related cancer 10.1530/ERC-13-0349
Interaction of tau protein with the dynactin complex Maria Grazia Spillantini
Laura Gasparini
Linda Amos
Giampietro Schiavo
The EMBO Journal 10.1038/SJ.EMBOJ.7601878
Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations. Bradley A Webb
Liang Tong
Diane Barber
Nature 10.1038/NATURE14405
Cofilin is a pH sensor for actin free barbed end formation: role of phosphoinositide binding Laura Dominguez
Matthew P. Jacobson
Diane Barber
Journal of Cell Biology 10.1083/JCB.200804161
Activation of tissue transglutaminase transcription by histone deacetylase inhibition as a therapeutic approach for Myc oncogenesis. Antonio Porro
Nunzio Iraci
Michelle Haber
Murray Norris
Proceedings of the National Academy of Sciences of the United States of America 10.1073/PNAS.0705524104
TRIM16 acts as a tumour suppressor by inhibitory effects on cytoplasmic vimentin and nuclear E2F1 in neuroblastoma cells Jessica L Bell
Owen Tan
Tao Liu
Murray Norris
Michelle Haber
Oncogene 10.1038/ONC.2010.340
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis Paul Saftig
Alicia Oshlack
Renate Lüllmann-Rauch
Jeremy Silver
Judy Savige
Jim Stankovich
Gordon K Smyth
Samuel Berkovic
Marta A Bayly
American Journal of Human Genetics 10.1016/J.AJHG.2007.12.019
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Arn van den Maagdenberg
Boukje de Vries
Emanuela Abiusi
Fiorella Gurrieri
Ingrid Scheffer
Mohamad A. Mikati
Latasha Little
Sophie Nicole
Alexis Arzimanoglou
Michel D. Ferrari
Kathryn J Swoboda
Lynn Jorde
Nature Genetics 10.1038/NG.2358
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Jay Shendure
Tally Lerman-Sagie
Jacinta M McMahon
Deepak Gill
Brian J O'Roak
Ingrid Scheffer
Samuel Berkovic
Amos D. Korczyn
Dorit Lev
Nature Genetics 10.1038/NG.2646
De novo mutations in epileptic encephalopathies Evan E. Eichler
Slavé Petrovski
Renee Shellhaas
Edward J. Novotny
Jacqueline French
Terence J O'Brien
Orrin Devinsky
Ingrid Scheffer
Eileen P. G. Vining
Eric Kossoff
Nature 10.1038/NATURE12439
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. Amos D. Korczyn
Karen Oliver
Richard J Smith
Nathan E Hall
Khalid Mahmood
Mikko Muona
Michael S. Hildebrand
Ingrid Scheffer
Human Molecular Genetics 10.1093/HMG/DDV171
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Jay Shendure
Sarah Weckhuysen
Jacinta M McMahon
Brian J O'Roak
Deepak Gill
Arvid Suls
Leanne Dibbens
Samuel Berkovic
Ingrid Scheffer
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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Jozef Gécz
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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures Federico Zara
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American Journal of Human Genetics 10.1016/J.AJHG.2015.02.016
Refining analyses of copy number variation identifies specific genes associated with developmental delay Jay Shendure
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Notch1 regulates the fate of cardiac progenitor cells Piero Anversa
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Multiple common variants for celiac disease influencing immune gene expression Leena Peltonen-Palotie
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XXIV World Allergy Congress 2015 Iwona Kłoszewska
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Mizuko Mamura
Jing Wang
Torsten Zuberbier
Karl-Christian Bergmann
Erika Jensen-Jarolim
Cristoforo Incorvaia
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