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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Authors :Boycott KM , Rath A , Chong JX , Hartley T , Alkuraya FS , Baynam G , Brookes AJ , Brudno M , Carracedo A , den Dunnen JT , Dyke SOM , Estivill X , Goldblatt J , Gonthier C , Groft SC , Gut I , Hamosh A , Hieter P , Höhn S , Hurles ME , Kaufmann P , Knoppers BM , Krischer JP , Macek M Jr , Matthijs G , Olry A , Parker S , Paschall J , Philippakis AA , Rehm HL , Robinson PN , Sham PC , Stefanov R , Taruscio D , Unni D , Vanstone MR , Zhang F , Brunner H , Bamshad MJ , Lochmüller H
Published On :2017 May 4
Journal Article


Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome.

Authors :Munshi K , Pawlowski K , Gonzalez-Heydrich J , Picker JD
Published On :2017 Dec
Journal Article Review


Negative selection in humans and fruit flies involves synergistic epistasis.

Authors :Sohail M , Vakhrusheva OA , Sul JH , Pulit SL , Francioli LC , Genome of the Netherlands Consortium , Alzheimer’s Disease Neuroimaging Initiative , van den Berg LH , Veldink JH , de Bakker PIW , Bazykin GA , Kondrashov AS , Sunyaev SR
Published On :2017 May 5
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Authors :Johnson MB , De Franco E , Lango Allen H , Al Senani A , Elbarbary N , Siklar Z , Berberoglu M , Imane Z , Haghighi A , Razavi Z , Ullah I , Alyaarubi S , Gardner D , Ellard S , Hattersley AT , Flanagan SE
Published On :2017 Aug
Journal Article Research Support, Non-U.S. Gov't


Relationship of Fibroblast Growth Factor 23 (FGF-23) Serum Levels With Low Bone Mass in Postmenopausal Women.

Authors :Shen J , Fu S , Song Y
Published On :2017 Dec
Clinical Trial Journal Article


Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

Authors :Zou F , McWalter K , Schmidt L , Decker A , Picker JD , Lincoln S , Sweetser DA , Briere LC , Harini C , Members of the Undiagnosed Diseases Network , Marsh E , Medne L , Wang RY , Leydiker K , Mower A , Visser G , Cuppen I , van Gassen KL , van der Smagt J , Yousaf A , Tennison M , Shanmugham A , Butler E , Richard G , McKnight D
Published On :2017 Mar-Jun
Case Reports Journal Article


Nucleotide-time alignment for molecular recorders.

Authors :Cybulski TR , Boyden ES , Church GM , Tyo KEJ , Kording KP
Published On :2017 May
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.

Authors :McConnell MJ , Moran JV , Abyzov A , Akbarian S , Bae T , Cortes-Ciriano I , Erwin JA , Fasching L , Flasch DA , Freed D , Ganz J , Jaffe AE , Kwan KY , Kwon M , Lodato MA , Mills RE , Paquola ACM , Rodin RE , Rosenbluh C , Sestan N , Sherman MA , Shin JH , Song S , Straub RE , Thorpe J , Weinberger DR , Urban AE , Zhou B , Gage FH , Lehner T , Senthil G , Walsh CA , Chess A , Courchesne E , Gleeson JG , Kidd JM , Park PJ , Pevsner J , Vaccarino FM , Brain Somatic Mosaicism Network
Published On :2017 Apr 28
Journal Article Review


Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.

Authors :Garza-Flores A , Hawley P , Picker J , Tannebring E , Deardorff MA , Lin AE
Published On :2017 Jul
Letter


Assessment of the synergic effect of immunomodulation on nerve repair using multiparametric magnetic resonance imaging.

Authors :Zheng CS , Zhang X , Chen YY , Zhang F , Duan XH , Chen MW , Lu LJ , Shen J
Published On :2018 Jan
Journal Article


High-performance Schottky heterojunction photodetector with directly grown graphene nanowalls as electrodes.

Authors :Shen J , Liu X , Song X , Li X , Wang J , Zhou Q , Luo S , Feng W , Wei X , Lu S , Feng S , Du C , Wang Y , Shi H , Wei D
Published On :2017 May 11
Journal Article


Evolutionary dynamics of CRISPR gene drives.

Authors :Noble C , Olejarz J , Esvelt KM , Church GM , Nowak MA
Published On :2017 Apr
Journal Article


Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors :Cummings BB , Marshall JL , Tukiainen T , Lek M , Donkervoort S , Foley AR , Bolduc V , Waddell LB , Sandaradura SA , O'Grady GL , Estrella E , Reddy HM , Zhao F , Weisburd B , Karczewski KJ , O'Donnell-Luria AH , Birnbaum D , Sarkozy A , Hu Y , Gonorazky H , Claeys K , Joshi H , Bournazos A , Oates EC , Ghaoui R , Davis MR , Laing NG , Topf A , Genotype-Tissue Expression Consortium , Kang PB , Beggs AH , North KN , Straub V , Dowling JJ , Muntoni F , Clarke NF , Cooper ST , Bönnemann CG , MacArthur DG
Published On :2017 Apr 19
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Antepartum management and obstetric outcomes among pregnancies with Down syndrome from diagnosis to delivery.

Authors :Guseh SH , Little SE , Bennett K , Silva V , Wilkins-Haug LE
Published On :2017 Jul
Journal Article


miR-128-1 is not required for hair pigmentation in mice.

Authors :Wark AR , Terman EJ , Tabin CJ
Published On :2017 Oct
Letter Research Support, N.I.H., Extramural