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Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox.

Authors :Christ SE , Clocksin HE , Zalik M , Goodlett BD , Sacharow SJ , Abbene EE
Published On :2023 May
Journal Article


Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.

Authors :Folland C , Ganesh V , Weisburd B , McLean C , Kornberg AJ , O'Donnell-Luria A , Rehm HL , Stevanovski I , Chintalaphani SR , Kennedy P , Deveson IW , Ravenscroft G
Published On :2023 Apr
Journal Article


High-throughput phenogenotyping of Mycobacteria tuberculosis clinical strains reveals bacterial determinants of treatment outcomes.

Authors :Stanley S , Spaulding CN , Liu Q , Chase MR , Ha DTM , Thai PVK , Lan NH , Thu DDA , Quang NL , Brown J , Hicks ND , Wang X , Marin M , Howard NC , Vickers AJ , Karpinski WM , Chao MC , Farhat MR , Caws M , Dunstan SJ , Thuong NTT , Fortune SM
Published On :2023 Apr 10
Journal Article


Genetics of myocardial interstitial fibrosis in the human heart and association with disease.

Authors :Nauffal V , Di Achille P , Klarqvist MDR , Cunningham JW , Hill MC , Pirruccello JP , Weng LC , Morrill VN , Choi SH , Khurshid S , Friedman SF , Nekoui M , Roselli C , Ng K , Philippakis AA , Batra P , Ellinor PT , Lubitz SA
Published On :2023 May
Journal Article


Nationwide health, socio-economic and genetic predictors of COVID-19 vaccination status in Finland.

Authors :Hartonen T , Jermy B , Sõnajalg H , Vartiainen P , Krebs K , Vabalas A , FinnGen , Estonian Biobank Research Team , Leino T , Nohynek H , Sivelä J , Mägi R , Daly M , Ollila HM , Milani L , Perola M , Ripatti S , Ganna A
Published On :2023 Jul
Journal Article


Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.

Authors :Wu Y , Gettler K , Kars ME , Giri M , Li D , Bayrak CS , Zhang P , Jain A , Maffucci P , Sabic K , Van Vleck T , Nadkarni G , Denson LA , Ostrer H , Levine AP , Schiff ER , Segal AW , Kugathasan S , Stenson PD , Cooper DN , Philip Schumm L , Snapper S , Daly MJ , Haritunians T , Duerr RH , Silverberg MS , Rioux JD , Brant SR , McGovern DPB , Cho JH , Itan Y
Published On :2023 Apr 20
Journal Article


Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.

Authors :Rämö JT , Abner E , van Dijk EHC , Wang X , Brinks J , Nikopensius T , Nõukas M , Marjonen H , Silander K , Jukarainen S , Kiiskinen T , Choi SH , Kajanne R , Mehtonen J , Palta P , Lubitz SA , Kaarniranta K , Sobrin L , Kurki M , Yzer S , Ellinor PT , Esko T , Daly MJ , den Hollander AI , Palotie A , Turunen JA , Boon CJF , Rossin EJ , FinnGen Study , Estonian Biobank Research Team
Published On :2023 May 1
Journal Article


Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies.

Authors :Hui L , Ellis K , Mayen D , Pertile MD , Reimers R , Sun L , Vermeesch J , Vora NL , Chitty LS
Published On :2023 Jun
Journal Article



LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Authors :Schmid CM , Gregor A , Costain G , Morel CF , Massingham L , Schwab J , Quélin C , Faoucher M , Kaplan J , Procopio R , Saunders CJ , Cohen ASA , Lemire G , Sacharow S , O'Donnell-Luria A , Segal RJ , Kianmahd Shamshoni J , Schweitzer D , Ebrahimi-Fakhari D , Monaghan K , Palculict TB , Napier MP , Tao A , Isidor B , Moradkhani K , Reis A , Sticht H , Care4Rare Canada , Chung WK , Zweier C
Published On :2023 Jul
Journal Article


Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Authors :Tepe B , Macke EL , Niceta M , Weisz Hubshman M , Kanca O , Schultz-Rogers L , Zarate YA , Schaefer GB , Granadillo De Luque JL , Wegner DJ , Cogne B , Gilbert-Dussardier B , Le Guillou X , Wagner EJ , Pais LS , Neil JE , Mochida GH , Walsh CA , Magal N , Drasinover V , Shohat M , Schwab T , Schmitz C , Clark K , Fine A , Lanpher B , Gavrilova R , Blanc P , Burglen L , Afenjar A , Steel D , Kurian MA , Prabhakar P , Gößwein S , Di Donato N , Bertini ES , Undiagnosed Diseases Network , Wangler MF , Yamamoto S , Tartaglia M , Klee EW , Bellen HJ
Published On :2023 May 4
Journal Article


Cohort profile: SUPER-Finland - the Finnish study for hereditary mechanisms of psychotic disorders.

Authors :Lähteenvuo M , Ahola-Olli A , Suokas K , Holm M , Misiewicz Z , Jukuri T , Männynsalo T , Wegelius A , Haaki W , Kajanne R , Kyttälä A , Tuulio-Henriksson A , Lahdensuo K , Häkkinen K , Hietala J , Paunio T , Niemi-Pynttäri J , Kieseppä T , Veijola J , Lönnqvist J , Isometsä E , Kampman O , Tiihonen J , Hyman S , Neale B , Daly M , Suvisaari J , Palotie A
Published On :2023 Apr 12
Journal Article


Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.

Authors :Oja KT , Ilisson M , Reinson K , Muru K , Reimand T , Peterson H , Fishman D , Esko T , Haller T , Kronberg J , Wojcik MH , Kennedy A , Michelotti G , O'Donnell-Luria A , Õiglane-Šlik E , Pajusalu S , Õunap K
Published On :2023 Mar 30
Journal Article


A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Authors :Seaby EG , Leggatt G , Cheng G , Thomas NS , Ashton JJ , Stafford I , Genomics England Consortium , Baralle D , Rehm HL , O'Donnell-Luria A , Ennis S
Published On :2023 Mar 30
Journal Article


Advancing Understanding of Inequities in Rare Disease Genomics.

Authors :Serrano JG , O'Leary M , VanNoy G , Holm IA , Fraiman YS , Rehm HL , O'Donnell-Luria A , Wojcik MH
Published On :2023 Mar 29
Journal Article