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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Authors :Wojcik MH , Lemire G , Zaki MS , Wissman M , Win W , White S , Weisburd B , Waddell LB , Verboon JM , VanNoy GE , Töpf A , Tan TY , Straub V , Stenton SL , Snow H , Singer-Berk M , Silver J , Shril S , Seaby EG , Schneider R , Sankaran VG , Sanchis-Juan A , Russell KA , Reinson K , Ravenscroft G , Pierce EA , Place EM , Pajusalu S , Pais L , Õunap K , Osei-Owusu I , Okur V , Oja KT , O'Leary M , O'Heir E , Morel C , Marchant RG , Mangilog BE , Madden JA , MacArthur D , Lovgren A , Lerner-Ellis JP , Lin J , Laing N , Hildebrandt F , Groopman E , Goodrich J , Gleeson JG , Ghaoui R , Genetti CA , Gazda HT , Ganesh VS , Ganapathy M , Gallacher L , Fu J , Evangelista E , England E , Donkervoort S , DiTroia S , Cooper ST , Chung WK , Christodoulou J , Chao KR , Cato LD , Bujakowska KM , Bryen SJ , Brand H , Bonnemann C , Beggs AH , Baxter SM , Agrawal PB , Talkowski M , Austin-Tse C , Rehm HL , O'Donnell-Luria A
Published On :2023 Aug 13
Journal Article


Direct reprogramming of non-limb fibroblasts to cells with properties of limb progenitors.

Authors :Atsuta Y , Lee C , Rodrigues AR , Colle C , Tomizawa RR , Lujan EG , Tschopp P , Galan L , Zhu M , Gorham JM , Vannier JP , Seidman CE , Seidman JG , Ros MA , Pourquié O , Tabin CJ
Published On :2024 Feb 5
Journal Article


Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Authors :Donkervoort S , Mohassel P , O'Leary M , Bonner DE , Hartley T , Acquaye N , Brull A , Mozaffar T , Saporta MA , Dyment DA , Sampson JB , Pajusalu S , Austin-Tse C , Hurth K , Cohen JS , McWalter K , Warman-Chardon J , Crunk A , Foley AR , Undiagnosed Diseases Network , Mammen AL , Wheeler MT , O'Donnell-Luria A , Bönnemann CG
Published On :2024 Mar
Journal Article


Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Authors :Agaoglu NB , Unal B , Hayes CP , Walker M , Ng OH , Doganay L , Can ND , Rana HQ , Ghazani AA
Published On :2024 Feb
Journal Article


Rapid Generation of hPSC-Derived High Endothelial Venule Organoids with In Vivo Ectopic Lymphoid Tissue Capabilities.

Authors :Wang X , Li X , Zhao J , Li Y , Shin SR , Ligresti G , Ng AHM , Bromberg JS , Church G , Lemos DR , Abdi R
Published On :2024 Apr
Journal Article


Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Authors :Ansari M , Faour KNW , Shimamura A , Grimes G , Kao EM , Denhoff ER , Blatnik A , Ben-Isvy D , Wang L , Helm BM , Firth H , Breman AM , Bijlsma EK , Iwata-Otsubo A , de Ravel TJL , Fusaro V , Fryer A , Nykamp K , Stühn LG , Haack TB , Korenke GC , Constantinou P , Bujakowska KM , Low KJ , Place E , Humberson J , Napier MP , Hoffman J , Juusola J , Deardorff MA , Shao W , Rockowitz S , Krantz I , Kaur M , Raible S , Dortenzio V , Kliesch S , Singer-Berk M , Groopman E , DiTroia S , Ballal S , Srivastava S , Rothfelder K , Biskup S , Rzasa J , Kerkhof J , McConkey H , Sadikovic B , Hilton S , Banka S , Tüttelmann F , Conrad DF , O'Donnell-Luria A , Talkowski ME , FitzPatrick DR , Boone PM
Published On :2024 Apr 11
Journal Article


RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.

Authors :Fazal S , Danzi MC , Xu I , Kobren SN , Sunyaev S , Reuter C , Marwaha S , Wheeler M , Dolzhenko E , Lucas F , Wuchty S , Tekin M , Züchner S , Aguiar-Pulido V
Published On :2024 Jan 31
Journal Article


Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.

Authors :Zhang Y , Dron JS , Bellows BK , Khera AV , Liu J , Balte PP , Oelsner EC , Amr SS , Lebo MS , Nagy A , Peloso GM , Natarajan P , Rotter JI , Willer C , Boerwinkle E , Ballantyne CM , Lutsey PL , Fornage M , Lloyd-Jones DM , Hou L , Psaty BM , Bis JC , Floyd JS , Vasan RS , Heard-Costa NL , Carson AP , Hall ME , Rich SS , Guo X , Kazi DS , de Ferranti SD , Moran AE
Published On :2024 Mar 1
Journal Article


Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

Authors :Liu D , Billington CJ Jr , Raja N , Wong ZC , Levin MD , Resch W , Alba C , Hupalo DN , Biamino E , Bedeschi MF , Digilio MC , Squeo GM , Villa R , Parrish PCR , Knutsen RH , Osgood S , Freeman JA , Dalgard CL , Merla G , Pober BR , Mervis CB , Roberts AE , Morris CA , Osborne LR , Kozel BA
Published On :2024 Feb 6
Journal Article


Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.

Authors :Alaamery M , Massadeh S , Aldarwish M , Albesher N , Aljawini N , Alahmed O , Kashgari A , Walsh CA , Eyaid W
Published On :2023
Journal Article


Clinical and molecular epidemiology of enterovirus D68 from 2013 to 2020 in Shanghai.

Authors :Li F , Lu RJ , Zhang YH , Shi P , Ao YY , Cao LF , Zhang YL , Tan WJ , Shen J
Published On :2024 Jan 25
Journal Article


Protein design meets biosecurity.

Authors :Baker D , Church G
Published On :2024 Jan 26
Editorial


Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.

Authors :Manoli I , Sysol JR , Head PE , Epping MW , Gavrilova O , Crocker MK , Sloan JL , Koutsoukos SA , Wang C , Ktena YP , Mendelson S , Pass AR , Zerfas PM , Hoffmann V , Vernon HJ , Fletcher LA , Reynolds JC , Tsokos MG , Stratakis CA , Voss SD , Chen KY , Brown RJ , Hamosh A , Berry GT , Chen XS , Yanovski JA , Venditti CP
Published On :2024 Feb 22
Journal Article


Development and Validation of MRI Radiomics Models to Differentiate HER2-Zero, -Low, and -Positive Breast Cancer.

Authors :Peng Y , Zhang X , Qiu Y , Li B , Yang Z , Huang J , Lin J , Zheng C , Hu L , Shen J
Published On :2024 Apr
Journal Article Multicenter Study


Contrast-induced encephalopathy after an embolization procedure for a cerebral aneurysm in a female with subarachnoid hemorrhage: a case report.

Authors :Ren J , Ge Y , Wen R , Zhang Y , Shen J , Chen W
Published On :2024 Jan 23
Journal Article