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The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Authors :Demirbas D , Huang X , Daesety V , Feenstra S , Haskovic M , Qi W , Gubbels CS , Hecht L , Levy HL , Waisbren SE , Berry GT
Published On :2019 Apr
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't



Thermal-wave resonant cavity signal processing.

Authors :Gu C , Shen J , Zhou J , Michaelian KH , Gieleciak R , Astrath NGC , Baesso ML
Published On :2019 Jan
Journal Article


SLC39A8 missense variant is associated with Crohn's disease but does not have a major impact on gut microbiome composition in healthy subjects.

Authors :Collij V , Imhann F , Vich Vila A , Fu J , Dijkstra G , Festen EAM , Voskuil MD , Daly MJ , Xavier RJ , Wijmenga C , Zhernakova A , Weersma RK
Published On :2019
Journal Article Research Support, Non-U.S. Gov't


REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer's Disease.

Authors :Meyer K , Feldman HM , Lu T , Drake D , Lim ET , Ling KH , Bishop NA , Pan Y , Seo J , Lin YT , Su SC , Church GM , Tsai LH , Yankner BA
Published On :2019 Jan 29
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Significant abundance of cis configurations of coding variants in diploid human genomes.

Authors :Hoehe MR , Herwig R , Mao Q , Peters BA , Drmanac R , Church GM , Huebsch T
Published On :2019 Apr 8
Journal Article Research Support, Non-U.S. Gov't


Shift of Reference Values for Thyroid Volume by Ultrasound in 8- to 13-Year-Olds with Sufficient Iodine Intake in China.

Authors :Chen W , Zhang Q , Wu Y , Wang W , Wang X , Pearce EN , Tan L , Shen J , Zhang W
Published On :2019 Mar
Journal Article Research Support, Non-U.S. Gov't


A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.

Authors :Schork AJ , Won H , Appadurai V , Nudel R , Gandal M , Delaneau O , Revsbech Christiansen M , Hougaard DM , Bækved-Hansen M , Bybjerg-Grauholm J , Giørtz Pedersen M , Agerbo E , Bøcker Pedersen C , Neale BM , Daly MJ , Wray NR , Nordentoft M , Mors O , Børglum AD , Bo Mortensen P , Buil A , Thompson WK , Geschwind DH , Werge T
Published On :2019 Mar
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


A Review of Resveratrol as a Potent Chemoprotective and Synergistic Agent in Cancer Chemotherapy.

Authors :Xiao Q , Zhu W , Feng W , Lee SS , Leung AW , Shen J , Gao L , Xu C
Published On :2018
Journal Article Review


Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Authors :Kelly M , Park M , Mihalek I , Rochtus A , Gramm M , Pérez-Palma E , Axeen ET , Hung CY , Olson H , Swanson L , Anselm I , Briere LC , High FA , Sweetser DA , Undiagnosed Diseases Network , Kayani S , Snyder M , Calvert S , Scheffer IE , Yang E , Waugh JL , Lal D , Bodamer O , Poduri A
Published On :2019 Mar
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Trans-counseling: A case series of transgender individuals at high risk for BRCA1 pathogenic variants.

Authors :Sacca RE , Koeller DR , Rana HQ , Garber JE , Morganstern DE
Published On :2019 Jun
Journal Article


De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Authors :Jansen S , van der Werf IM , Innes AM , Afenjar A , Agrawal PB , Anderson IJ , Atwal PS , van Binsbergen E , van den Boogaard MJ , Castiglia L , Coban-Akdemir ZH , van Dijck A , Doummar D , van Eerde AM , van Essen AJ , van Gassen KL , Guillen Sacoto MJ , van Haelst MM , Iossifov I , Jackson JL , Judd E , Kaiwar C , Keren B , Klee EW , Klein Wassink-Ruiter JS , Meuwissen ME , Monaghan KG , de Munnik SA , Nava C , Ockeloen CW , Pettinato R , Racher H , Rinne T , Romano C , Sanders VR , Schnur RE , Smeets EJ , Stegmann APA , Stray-Pedersen A , Sweetser DA , Terhal PA , Tveten K , VanNoy GE , de Vries PF , Waxler JL , Willing M , Pfundt R , Veltman JA , Kooy RF , Vissers LELM , de Vries BBA
Published On :2019 May
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Authors :Kurki MI , Saarentaus E , Pietiläinen O , Gormley P , Lal D , Kerminen S , Torniainen-Holm M , Hämäläinen E , Rahikkala E , Keski-Filppula R , Rauhala M , Korpi-Heikkilä S , Komulainen-Ebrahim J , Helander H , Vieira P , Männikkö M , Peltonen M , Havulinna AS , Salomaa V , Pirinen M , Suvisaari J , Moilanen JS , Körkkö J , Kuismin O , Daly MJ , Palotie A
Published On :2019 Jan 24
Journal Article Research Support, Non-U.S. Gov't


Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Authors :Nadol JB Jr , Hedley-Whyte ET , Amr SS , O Apos Malley JT , Kamakura T
Published On :2018
Case Reports Journal Article Research Support, N.I.H., Extramural


Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Authors :Zollino M , Zweier C , Van Balkom ID , Sweetser DA , Alaimo J , Bijlsma EK , Cody J , Elsea SH , Giurgea I , Macchiaiolo M , Smigiel R , Thibert RL , Benoist I , Clayton-Smith J , De Winter CF , Deckers S , Gandhi A , Huisman S , Kempink D , Kruisinga F , Lamacchia V , Marangi G , Menke L , Mulder P , Nordgren A , Renieri A , Routledge S , Saunders CJ , Stembalska A , Van Balkom H , Whalen S , Hennekam RC
Published On :2019 Apr
Consensus Statement Journal Article Research Support, Non-U.S. Gov't Review