Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 2022
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.
Ginete C et al.
Genes, 2021
Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.
Day SE et al.
Obesity (silver Spring, Md.), 2021
Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.
Xie S et al.
Cell Reports, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches.
Backhouse B et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I et al.
Scientific Reports, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
Scott CA et al.
Plos Genetics, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
Castro-Sánchez S et al.
Journal of Medical Genetics, 2015
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C et al.
Journal of Medical Genetics, 2012
Polydactyly: how many disorders and how many genes? 2010 update.
Biesecker LG
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2011
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.
Chetta M et al.
Indian Journal of Human Genetics, 2011
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Pereiro I et al.
European Journal of Human Genetics : Ejhg, 2011
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G et al.
Journal of Medical Genetics, 2010
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Hjortshøj TD et al.
Human Mutation, 2010
Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.
Webb MP et al.
Kidney International, 2009
Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population.
Rouskas K et al.
International Journal of Obesity (2005), 2008
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
Hirayama S et al.
Molecular Biology of the Cell, 2008
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.
Nakane T et al.
American Journal of Medical Genetics. Part A, 2005
[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].
Hjortshøj TD et al.
Ugeskrift for Laeger, 2005
Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.
Andersen KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
The oligogenic properties of Bardet-Biedl syndrome.
Katsanis N
Human Molecular Genetics, 2004
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
Polydactyly: how many disorders and how many genes?
Biesecker LG
American Journal of Medical Genetics, 2002
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL et al.
Nature Reviews. Genetics, 2002
Clinical and genetic epidemiology of inherited renal disease in Newfoundland.
Parfrey PS et al.
Kidney International, 2002
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
Slavotinek AM et al.
Human Genetics, 2002
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Katsanis N et al.
Nature Genetics, 2000