A systematic review of genetic syndromes with obesity

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

(2016) Muzammil Ahmad Khan et al.   BMC Medical Genetics

Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity

(2016) M. Pigeyre et al.   CLINICAL SCIENCE

Obesity in adults with 22q11.2 deletion syndrome

(2016) Sarah L. Voll et al.   GENETICS IN MEDICINE

Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)

(2016) Elise Heon et al.   HUMAN MOLECULAR GENETICS

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report

(2016) Kunka Kamenarova et al.   HUMAN PATHOLOGY

Deactivation of the left dorsolateral prefrontal cortex in Prader–Willi syndrome after meal consumption

(2016) M Reinhardt et al.   INTERNATIONAL JOURNAL OF OBESITY

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

(2016) Elise Schaefer et al.   JOURNAL OF HUMAN GENETICS

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients

(2016) Ellen Geets et al.   MOLECULAR GENETICS AND METABOLISM

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

(2016) Arif O. Khan et al.   OPHTHALMIC GENETICS

Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool

(2015) Zahra N. Sohani et al.   BMC GENETICS

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

(2015) Asli Ece Solmaz et al.   European Journal of Medical Genetics

Bardet-Biedl syndrome: Is it only cilia dysfunction?

(2015) Rossina Novas et al.   FEBS LETTERS

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome

(2015) Libin Mei et al.   GENE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

(2015) Erina Suzuki et al.   Hormone Research in Paediatrics

Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity

(2015) Sara Hägg et al.   HUMAN MOLECULAR GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Alström Syndrome: Mutation Spectrum ofALMS1

(2015) Jan D. Marshall et al.   HUMAN MUTATION

Seven Novel DeleteriousLEPRMutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect

(2015) Hélène Huvenne et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Deep phenotyping: The details of disease

(2015) Cathryn M. Delude   NATURE

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

(2015) Kosuke Izumi et al.   NATURE GENETICS

Naming diseases: First do no harm

(2015) K. Fukuda et al.   SCIENCE

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

(2015) Laurent Desch et al.   Molecular Cytogenetics

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family with Bardet-Biedl Syndrome

(2015) Yong Mong Bee et al.   Biomed Research International

Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly

(2014) Anna S. Victorine et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity

(2014) Yukiko Kuroda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Angelman syndrome in adulthood

(2014) Anna M. Larson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cornelia de Lange syndrome

(2014) M.I. Boyle et al.   CLINICAL GENETICS

2. Classification and Diagnosis of Diabetes

(2014)   DIABETES CARE

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity

(2014) Carolina Courage et al.   European Journal of Medical Genetics

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

(2014) M. A. Aldahmesh et al.   HUMAN MOLECULAR GENETICS

Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

(2014) Zohreh Fattahi et al.   JOURNAL OF HUMAN GENETICS

The Revolution in Human Monogenic Disease Mapping

(2014) Emma Duncan et al.   Genes

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in theGNASgene

(2014) Susanne Thiele et al.   Molecular Genetics & Genomic Medicine

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome

(2013) Susan A. Woods et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic Modifiers of Cystic Fibrosis-Related Diabetes

(2013) S. M. Blackman et al.   DIABETES

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

(2013) May Sanyoura et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

(2013) Martine Doco-Fenzy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features

(2013) Objoon Trachoo et al.   European Journal of Medical Genetics

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

(2013) Cristina Gervasini et al.   European Journal of Medical Genetics

Hunting human disease genes: lessons from the past, challenges for the future

(2013) Liam R. Brunham et al.   HUMAN GENETICS

A Homozygous Mutation in theTUBGene Associated with Retinal Dystrophy and Obesity

(2013) Arundhati Dev Borman et al.   HUMAN MUTATION

The CARE guidelines: consensus-based clinical case report guideline development

(2013) Joel J. Gagnier et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features

(2013) Amélie Bonnefond et al.   JOURNAL OF CLINICAL INVESTIGATION

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

(2013) Shwetha Ramachandrappa et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

(2013) Sophie Scheidecker et al.   JOURNAL OF MEDICAL GENETICS

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Pathophysiology of Human Visceral Obesity: An Update

(2013) André Tchernof et al.   PHYSIOLOGICAL REVIEWS

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton

(2013) Cheng Cui et al.   PLOS BIOLOGY

A homozygous balanced reciprocal translocation suggestsLINC00237as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

(2012) Phi Yen Vu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

(2012) N. Di Donato et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

(2012) M Rio et al.   CLINICAL GENETICS

A Case of Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neural Crest Tumor: Rohhadnet Syndrome

(2012) Ayhan Abaci et al.   Endocrine Practice

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

(2012) Francesca Novara et al.   European Journal of Medical Genetics

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome

(2012) Saadullah Khan et al.   GENE

The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome

(2012) Raquel Rodríguez-López et al.   GENE

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Challenges in reproducibility of genetic association studies: lessons learned from the obesity field

(2012) A Li et al.   INTERNATIONAL JOURNAL OF OBESITY

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

(2012) Michael E. Doche et al.   JOURNAL OF CLINICAL INVESTIGATION

Kabuki syndrome revisited

(2012) Yemisi Bokinni   JOURNAL OF HUMAN GENETICS

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

(2012) Vincent Marion et al.   JOURNAL OF MEDICAL GENETICS

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

Digenic inheritance and Mendelian disease

(2012) James R Lupski   NATURE GENETICS

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

(2012) Paulina Carmona-Mora et al.   PLoS One

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

(2011) Adam J. de Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005

(2011) Jodi M. Jackson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

(2011) Elvera Sofos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adults with Rubinstein-Taybi syndrome

(2011) Cathy A. Stevens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

(2011) Marwan Shinawi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

(2011) Daniela Q.C.M. Barge-Schaapveld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

(2011) Soo-Jeong Kim et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

(2011) Konrad Oexle et al.   European Journal of Medical Genetics

Novel Alu retrotransposon insertion leading to Alström syndrome

(2011) Mustafa Taşkesen et al.   HUMAN GENETICS

Age- and gender-dependent obesity in individuals with 16p11.2 deletion

(2011) Yongguo Yu et al.   Journal of Genetics and Genomics

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

(2011) C. Beneteau et al.   JOURNAL OF MEDICAL GENETICS

Role of BMI-Associated Loci Identified in GWAS Meta-Analyses in the Context of Common Childhood Obesity in European Americans

(2011) Jianhua Zhao et al.   Obesity

BBS Mutational Analysis: A Strategic Approach

(2011) Gail Billingsley et al.   OPHTHALMIC GENETICS

Mutations and variants in the cohesion factor genesNIPBL,SMC1A, andSMC3in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

(2010) Juan Pié et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A boy with supernumerary mosaic trisomy 19q, involving 19q13.11–19q13.2, with macrocephaly, obesity and mild facial dysmorphism

(2010) Catriona E.J. Hall et al.   CLINICAL DYSMORPHOLOGY

Prader-Willi syndrome: Are there population differences?

(2010) Merlin G. Butler et al.   CLINICAL GENETICS

High incidence of Bardet Biedl syndrome among the Bedouin

(2010) Talaat I. Farag et al.   CLINICAL GENETICS

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

(2010) P Castronovo et al.   CLINICAL GENETICS

Novel missense mutations in the ubiquitination-related geneUBE2Acause a recognizable X-linked mental retardation syndrome

(2010) B Budny et al.   CLINICAL GENETICS

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12

(2010) Nathalie Van der Aa et al.   European Journal of Medical Genetics

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Genomic insights into early-onset obesity

(2010) Hélène Choquet et al.   Genome Medicine

Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup)

(2009) Mieke M. van Haelst et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome

(2009) JM Milunsky et al.   CLINICAL GENETICS

Ten Putative Contributors to the Obesity Epidemic

(2009) Emily J. McAllister et al.   CRITICAL REVIEWS IN FOOD SCIENCE AND NUTRITION

Coffin–Lowry syndrome

(2009) Patricia Marques Pereira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Strengthening the reporting of genetic association studies (STREGA)—an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement

(2009) Julian Little et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H

(2009) Mireille Cossée et al.   NEUROMUSCULAR DISORDERS

dup(19)(q12q13.2): Array-based Genotype–Phenotype Correlation of a New Possibly Obesity-related Syndrome

(2009) Josef Davidsson et al.   Obesity

Intelligence in relation to obesity: a systematic review and meta-analysis

(2009) Z. B. Yu et al.   Obesity Reviews

Air pollution, obesity, genes and cellular adhesion molecules

(2009) J. Madrigano et al.   OCCUPATIONAL AND ENVIRONMENTAL MEDICINE

Novel mutations inBBS5highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

(2008) Tina Duelund Hjortshøj et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

(2008) T D. Hjortshoj et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

STROBE and STREGA: instruments for improving transparency and quality of reporting scientific results

(2008) Dag Steinar Thelle   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Kallmann syndrome

(2008) Catherine Dodé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

(2008) Maria Clara Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood

(2008) Pierre Bougnères et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome

(2008) Joan C. Han et al.   NEW ENGLAND JOURNAL OF MEDICINE