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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects Zhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; ... Morrow, Bernice E 2020
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De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M 2020
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RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities Cousin, Margot A; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; ... Klee, Eric W 2019
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice Coutton, Charles; Martinez, Guillaume; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; ... Ray, Pierre F 2019
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Gueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre 2018
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A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure Sung, Yun J.; Winkler, Thomas W.; de las Fuentes, Lisa; Bentley, Amy R.; ... Chasman, Daniel I. 2018
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; ... Valente, Enza Maria 2017
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James 2016
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien 2016
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium 2016
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Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes Glastonbury, Craig A.; Viñuela, Ana; Buil Demur, Alfonso Alberto; Halldorsson, Gisli H.; ... Small, Kerrin S. 2016
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D 2016
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Alternative Splicing QTLs in European and African Populations Ongen, Halit; Dermitzakis, Emmanouil 2015
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome International Chromosome 22q11.2 Consortium 2015
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Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans Popadin, Konstantin; Gutierrez Arcelus, Maria; Lappalainen, Tuuli Emilia; Buil Demur, Alfonso Alberto; ... Antonarakis, Stylianos 2014
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Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations Ganesh, Santhi K; Ehret, Georg Benedikt 2014
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Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia Simino, Jeannette 2014
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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes Delio, Maria; Schneider, Maude; Dahoun, Sophie; Eliez, Stéphan; Armando, Marco 2013
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