Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

[1]  Gerta Rücker,et al.  How to perform a meta-analysis with R: a practical tutorial , 2019, Evidence-Based Mental Health.

[2]  M. McCarthy,et al.  The Genetic Basis of Metabolic Disease , 2019, Cell.

[3]  M. Aladjem,et al.  The replication initiation determinant protein (RepID) modulates replication by recruiting CUL4 to chromatin , 2018, Nature Communications.

[4]  K. Clément,et al.  MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency , 2018, Nature Medicine.

[5]  Marcelo P. Segura-Lepe,et al.  Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity , 2018, Nature Genetics.

[6]  Stephanie A. Santorico,et al.  ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls , 2018, bioRxiv.

[7]  N. Zelinska Ожиріння в дітей: визначення, лікування, профілактика. Клінічні практичні настанови Ендокринологічного Товариства. Частина 3 , 2018 .

[8]  M. U. Mirza,et al.  Loss-of-function mutations in ADCY3 cause monogenic severe obesity , 2018, Nature Genetics.

[9]  E. Zeggini,et al.  Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes , 2018, Nature Genetics.

[10]  Marcelo P. Segura-Lepe,et al.  Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity , 2017, Nature Genetics.

[11]  J. Danesh,et al.  Efficiency and safety of varying the frequency of whole blood donation (INTERVAL): a randomised trial of 45 000 donors , 2017, The Lancet.

[12]  M. Kanai,et al.  Genome-wide association study identifies 112 new loci for body mass index in the Japanese population , 2017, Nature Genetics.

[13]  Tom R. Gaunt,et al.  Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity , 2017, Scientific Reports.

[14]  Elvira Bramon,et al.  The contribution of rare variants to risk of 1 schizophrenia in individuals with and without 2 intellectual disability , 2017 .

[15]  Andrew D. Johnson,et al.  Edinburgh Research Explorer Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits , 2022 .

[16]  B. Frey,et al.  Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder , 2017, Nature Neuroscience.

[17]  N. Wareham,et al.  Associations between body mass index-related genetic variants and adult body composition: the Fenland cohort study , 2016, International Journal of Obesity.

[18]  Marcelo P. Segura-Lepe,et al.  Rare and low-frequency coding variants alter human adult height , 2016, Nature.

[19]  Kali T. Witherspoon,et al.  A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency , 2017, European Journal of Human Genetics.

[20]  N. Katsanis The continuum of causality in human genetic disorders , 2016, Genome Biology.

[21]  Wendy K. Chung,et al.  De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features , 2016, Cold Spring Harbor molecular case studies.

[22]  D. Weeks,et al.  A thrifty variant in CREBRF strongly influences body mass index in Samoans , 2016, Nature Genetics.

[23]  Dongwon Lee,et al.  Diacylglycerol Kinases in the Coordination of Synaptic Plasticity , 2016, Front. Cell Dev. Biol..

[24]  K. Clément,et al.  Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist. , 2016, The New England journal of medicine.

[25]  D. Meyre,et al.  Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity. , 2016, Clinical science.

[26]  Minna Männikkö,et al.  Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders , 2016, Nature Neuroscience.

[27]  F. Cunningham,et al.  The Ensembl Variant Effect Predictor , 2016, Genome Biology.

[28]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[29]  Tom R. Gaunt,et al.  Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel , 2015, Nature Communications.

[30]  Tom R. Gaunt,et al.  The UK10K project identifies rare variants in health and disease , 2016 .

[31]  Terrence F. Meehan,et al.  PhenStat: A Tool Kit for Standardized Analysis of High Throughput Phenotypic Data , 2015, PloS one.

[32]  L. Liang,et al.  Improved ancestry estimation for both genotyping and sequencing data using projection procrustes analysis and genotype imputation. , 2015, American journal of human genetics.

[33]  William C. Skarnes,et al.  WGE: a CRISPR database for genome engineering , 2015, Bioinform..

[34]  N. Rahman,et al.  Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth , 2015, Human molecular genetics.

[35]  I. Farooqi,et al.  The Hunger Genes: Pathways to Obesity , 2015, Cell.

[36]  Ross M. Fraser,et al.  Genetic studies of body mass index yield new insights for obesity biology , 2015, Nature.

[37]  S. Scherer,et al.  Whole-genome sequencing of quartet families with autism spectrum disorder , 2015, Nature Medicine.

[38]  David J. Adams,et al.  Impact of Temporal Variation on Design and Analysis of Mouse Knockout Phenotyping Studies , 2014, PloS one.

[39]  Jonathan Mant,et al.  The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial , 2014, Trials.

[40]  Stephan J Sanders,et al.  A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.

[41]  Heng Li,et al.  Toward better understanding of artifacts in variant calling from high-coverage samples , 2014, Bioinform..

[42]  Eric S. Lander,et al.  A polygenic burden of rare disruptive mutations in schizophrenia , 2014, Nature.

[43]  M. Daly,et al.  Searching for missing heritability: Designing rare variant association studies , 2014, Proceedings of the National Academy of Sciences.

[44]  Mauricio O. Carneiro,et al.  From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.

[45]  E. Boerwinkle,et al.  dbNSFP v2.0: A Database of Human Non‐synonymous SNVs and Their Functional Predictions and Annotations , 2013, Human mutation.

[46]  Damian Smedley,et al.  Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes , 2013, Cell.

[47]  Seunggeun Lee,et al.  General framework for meta-analysis of rare variants in sequencing association studies. , 2013, American journal of human genetics.

[48]  Inês Barroso,et al.  Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity , 2013, Nature Genetics.

[49]  Natasha A. Karp,et al.  Robust and Sensitive Analysis of Mouse Knockout Phenotypes , 2012, PloS one.

[50]  S. O’Rahilly,et al.  Human SH2B1 mutations are associated with maladaptive behaviors and obesity. , 2012, The Journal of clinical investigation.

[51]  B. V. van Bon,et al.  Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.

[52]  G. Abecasis,et al.  Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. , 2012, American journal of human genetics.

[53]  M. Rieder,et al.  Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.

[54]  J. Jurka,et al.  Crypton transposons: identification of new diverse families and ancient domestication events , 2011, Mobile DNA.

[55]  E. Boerwinkle,et al.  dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions , 2011, Human mutation.

[56]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[57]  Y. Bae,et al.  DGKι regulates presynaptic release during mGluR‐dependent LTD , 2011, The EMBO journal.

[58]  Heikki Lyytinen,et al.  SNP Variations in the 7q33 Region Containing DGKI are Associated with Dyslexia in the Finnish and German Populations , 2011, Behavior genetics.

[59]  Chunchun Han,et al.  The full‐length isoform of the mouse pleckstrin homology domain‐interacting protein (PHIP) is required for postnatal growth , 2010, FEBS letters.

[60]  J. Marchini,et al.  Genotype imputation for genome-wide association studies , 2010, Nature Reviews Genetics.

[61]  C. E. Pearson,et al.  Table S2: Trans-factors and trinucleotide repeat instability Trans-factor , 2010 .

[62]  S. O’Rahilly,et al.  Human Obesity: A Heritable Neurobehavioral Disorder That Is Highly Sensitive to Environmental Conditions , 2008, Diabetes.

[63]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[64]  J. Kushner,et al.  Identification of a WD40 Repeat-Containing Isoform of PHIP as a Novel Regulator of β-Cell Growth and Survival , 2007, Molecular and Cellular Biology.

[65]  D. Reich,et al.  Principal components analysis corrects for stratification in genome-wide association studies , 2006, Nature Genetics.

[66]  Jean YH Yang,et al.  Bioconductor: open software development for computational biology and bioinformatics , 2004, Genome Biology.

[67]  G. Trentin,et al.  Cloning and Characterization of PHIP, a Novel Insulin Receptor Substrate-1 Pleckstrin Homology DomainInteracting Protein* , 2000, The Journal of Biological Chemistry.

[68]  A. Prentice,et al.  Effects of recombinant leptin therapy in a child with congenital leptin deficiency. , 1999, The New England journal of medicine.

[69]  J. Kaprio,et al.  The heritability of body mass index among an international sample of monozygotic twins reared apart. , 1996, International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity.