Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rebecca A. Rojas,Anna A. Kutateladze,Lacey Plummer,Maria I. Stamou,David L. Keefe,Kathyrn B. Salnikov,Angela Delaney,Janet E. Hall,Ruslan I. Sadreyev,Fei Ji,Eric Fliers,Katarina Gambosova,Richard Quinton,Paulina M. Merino,Verónica Mericq,Stephanie B. Seminara,William F. Crowley,Ravikumar Balasubramanian +17 more
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TLDR
In this paper, the authors investigated whether SOX10-associated WS and IHH represent elements of a phenotypic continuum within a unifying disorder or if they represent phenotypically distinct allelic disorders.About:
This article is published in Genetics in Medicine.The article was published on 2021-01-13 and is currently open access. It has received 5 citations till now. The article focuses on the topics: Kallmann syndrome & Hypogonadotropic hypogonadism.read more
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Journal ArticleDOI
The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.
TL;DR: A comprehensive and updated description of the genes thus far associated with CHH, by dissecting their biological relevance in the GnRH system and their functional relevance underlying CHH pathogenesis is provided in this article.
Journal ArticleDOI
Opportunities and challenges for the use of common controls in sequencing studies
Genevieve L. Wojcik,Jessica I. Murphy,Jacob L Edelson,Christopher R. Gignoux,Alexander G. Ioannidis,Alisa K. Manning,Manuel A. Rivas,Steven Buyske,Audrey E. Hendricks +8 more
TL;DR: In this paper , the authors discuss challenges and opportunities for the robust use of common controls in high-throughput sequencing studies, including study design, quality control and statistical approaches, as well as discuss the need to carefully plan and execute such studies as even small differences in sample ascertainment and processing can result in substantial bias.
Journal ArticleDOI
Recent advances in understanding and managing Kallmann syndrome.
TL;DR: New strategies for arriving at more evidence-based and patient-centred medical practice in Kallmann syndrome are examined, which is characterised by the association of an isolated defect in the secretion of gonadotropin-releasing hormone and consequent infertility.
Journal ArticleDOI
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Margaret F. Lippincott,Wanxue Xu,Abigail A Smith,Xinyu Miao,Agathe Lafont,Omar Shennib,Gordon J Farley,Riwa Sabbagh,Angela Delaney,Marianna Stamou,Lacey Plummer,Kathryn B Salnikov,Neoklis A. Georgopoulos,Verónica Mericq,Richard Quinton,Frédéric Tran Mau-Them,Sophie Nambot,Asma Hamad,Helen Brittain,Rebecca S. Tooze,Eduardo Calpena,Andrew O.M. Wilkie,Marjolaine Willems,William F. Crowley,Ravi Balasubramanian,Nathalie Lamarche-Vane,Erica E. Davis,Stephanie B. Seminara +27 more
TL;DR: ARSGAP35 is identified as a new autosomal dominant genetic driver for IHH and ARHGAP5 as a candidate gene for I HH, and observations suggest a novel role for the p190 RhoGAP proteins in GnRH neuronal development and integrity.
Journal ArticleDOI
Hypogonadism in males with genetic neurodevelopmental syndromes.
TL;DR: The purpose of this Minireview is to provide a current understanding of the clinical, biochemical, histologic and genetic features of syndromes in which male hypogonadism and neurological dysfunction may coexist, and may be encountered by the clinical Endocrinologist.
References
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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
TL;DR: This protocol describes the use of the 'Sorting Tolerant From Intolerant' (SIFT) algorithm in predicting whether an AAS affects protein function.
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The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski,Laurent C. Francioli,Grace Tiao,Beryl B. Cummings,Jessica Alföldi,Qingbo Wang,Ryan L. Collins,Kristen M. Laricchia,Andrea Ganna,Daniel P. Birnbaum,Laura D. Gauthier,Harrison Brand,Matthew Solomonson,Nicholas A. Watts,Daniel R. Rhodes,Moriel Singer-Berk,Eleina M. England,Eleanor G. Seaby,Jack A. Kosmicki,Raymond K. Walters,Katherine Tashman,Yossi Farjoun,Eric Banks,Timothy Poterba,Arcturus Wang,Cotton Seed,Nicola Whiffin,Jessica X. Chong,Kaitlin E. Samocha,Emma Pierce-Hoffman,Zachary Zappala,Anne H. O’Donnell-Luria,Eric Vallabh Minikel,Ben Weisburd,Monkol Lek,James S. Ware,Christopher Vittal,Irina M. Armean,Louis Bergelson,Kristian Cibulskis,Kristen M. Connolly,Miguel Covarrubias,Stacey Donnelly,Steven Ferriera,Stacey Gabriel,Jeff Gentry,Namrata Gupta,Thibault Jeandet,Diane Kaplan,Christopher Llanwarne,Ruchi Munshi,Sam Novod,Nikelle Petrillo,David Roazen,Valentin Ruano-Rubio,Andrea Saltzman,Molly Schleicher,Jose Soto,Kathleen Tibbetts,Charlotte Tolonen,Gordon Wade,Michael E. Talkowski,Benjamin M. Neale,Mark J. Daly,Daniel G. MacArthur +64 more
TL;DR: A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.
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Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2
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CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch,Daniela Witten,Gregory M. Cooper,Jay Shendure,Martin Kircher,Martin Kircher +5 more
TL;DR: The latest updates to CADD are reviewed, including the most recent version, 1.4, which supports the human genome build GRCh38, and also present updates to the website that include simplified variant lookup, extended documentation, an Application Program Interface and improved mechanisms for integrating CADD scores into other tools or applications.
Journal ArticleDOI
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis,Joseph H. Rothstein,Joseph H. Rothstein,Vikas Pejaver,Sumit Middha,Shannon K. McDonnell,Saurabh Baheti,Anthony M. Musolf,Qing Li,Emily R. Holzinger,Danielle M. Karyadi,Lisa A. Cannon-Albright,Craig C. Teerlink,Janet L. Stanford,William B. Isaacs,Jianfeng Xu,Kathleen A. Cooney,Kathleen A. Cooney,Ethan M. Lange,Johanna Schleutker,John D. Carpten,Isaac J. Powell,Olivier Cussenot,Geraldine Cancel-Tassin,Graham G. Giles,Graham G. Giles,Robert J. MacInnis,Robert J. MacInnis,Christiane Maier,Chih-Lin Hsieh,Fredrik Wiklund,William J. Catalona,William D. Foulkes,Diptasri Mandal,Rosalind A. Eeles,Zsofia Kote-Jarai,Carlos Bustamante,Daniel J. Schaid,Trevor Hastie,Elaine A. Ostrander,Joan E. Bailey-Wilson,Predrag Radivojac,Stephen N. Thibodeau,Alice S. Whittemore,Weiva Sieh,Weiva Sieh +45 more
TL;DR: This work developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, LRT, GERP, SiPhy, phyloP, and phastCons.
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