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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


Synthesis of amylose and cellulose derivatives bearing bulky pendants for high-efficient chiral fluorescent sensing.

Authors :Wang F , Wang W , Wang Y , Zheng W , Zheng T , Zhang L , Okamoto Y , Shen J
Published On :2023 Jul 1
Journal Article


The Genetic Determinants of Aortic Distention.

Authors :Pirruccello JP , Rämö JT , Choi SH , Chaffin MD , Kany S , Nekoui M , Chou EL , Jurgens SJ , Friedman SF , Juric D , Stone JR , Batra P , Ng K , Philippakis AA , Lindsay ME , Ellinor PT
Published On :2023 Apr 11
Journal Article


National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians.

Authors :Hall JL , Honeycutt S , Gonzalez N , O'Donnell-Luria A , Overby Taylor C , Stevens L , Philippakis AA , Schatz MC
Published On :2023 Jun
Journal Article


A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.

Authors :Mo A , Paz-Ebstein E , Yanovsky-Dagan S , Lai A , Mor-Shaked H , Gilboa T , Yang E , Shao DD , Walsh CA , Harel T
Published On :2023 Jul
Journal Article


Transcriptomic reprogramming for neuronal age reversal.

Authors :Plesa AM , Shadpour M , Boyden E , Church GM
Published On :2023 Aug
Journal Article


Inferring compound heterozygosity from large-scale exome sequencing data.

Authors :Guo MH , Francioli LC , Stenton SL , Goodrich JK , Watts NA , Singer-Berk M , Groopman E , Darnowsky PW , Solomonson M , Baxter S , gnomAD Project Consortium , Tiao G , Neale BM , Hirschhorn JN , Rehm HL , Daly MJ , O'Donnell-Luria A , Karczewski KJ , MacArthur DG , Samocha KE
Published On :2023 Aug 21
Journal Article


Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution.

Authors :Kang JB , Shen AZ , Sakaue S , Luo Y , Gurajala S , Nathan A , Rumker L , Aguiar VRC , Valencia C , Lagattuta K , Zhang F , Jonsson AH , Yazar S , Alquicira-Hernandez J , Khalili H , Ananthakrishnan AN , Jagadeesh K , Dey K , Accelerating Medicines Partnership Program: Rheumatoid Arthritis and Systemic Lupus Erythematosus (AMP RA/SLE) Network , Daly MJ , Xavier RJ , Donlin LT , Anolik JH , Powell JE , Rao DA , Brenner MB , Gutierrez-Arcelus M , Raychaudhuri S
Published On :2023 Mar 20
Journal Article