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B cells populating the multiple sclerosis brain mature in the draining cervical lymph nodes.

Authors :Stern JN , Yaari G , Vander Heiden JA , Church G , Donahue WF , Hintzen RQ , Huttner AJ , Laman JD , Nagra RM , Nylander A , Pitt D , Ramanan S , Siddiqui BA , Vigneault F , Kleinstein SH , Hafler DA , O'Connor KC
Published On :2014 Aug 6
Journal Article


Changes in pulmonary artery pressure affect survival differently in lung transplant recipients who have pulmonary hypertension or chronic obstructive pulmonary disease.

Authors :O'Keefe KL , Kilic A , Pope-Harman A , Hayes D Jr , Kirkby S , Higgins RS , Whitson BA
Published On :2014 Aug
Journal Article


A framework for the interpretation of de novo mutation in human disease.

Authors :Samocha KE , Robinson EB , Sanders SJ , Stevens C , Sabo A , McGrath LM , Kosmicki JA , Rehnström K , Mallick S , Kirby A , Wall DP , MacArthur DG , Gabriel SB , DePristo M , Purcell SM , Palotie A , Boerwinkle E , Buxbaum JD , Cook EH Jr , Gibbs RA , Schellenberg GD , Sutcliffe JS , Devlin B , Roeder K , Neale BM , Daly MJ
Published On :2014 Sep
Journal Article


Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Authors :Lim ET , Würtz P , Havulinna AS , Palta P , Tukiainen T , Rehnström K , Esko T , Mägi R , Inouye M , Lappalainen T , Chan Y , Salem RM , Lek M , Flannick J , Sim X , Manning A , Ladenvall C , Bumpstead S , Hämäläinen E , Aalto K , Maksimow M , Salmi M , Blankenberg S , Ardissino D , Shah S , Horne B , McPherson R , Hovingh GK , Reilly MP , Watkins H , Goel A , Farrall M , Girelli D , Reiner AP , Stitziel NO , Kathiresan S , Gabriel S , Barrett JC , Lehtimäki T , Laakso M , Groop L , Kaprio J , Perola M , McCarthy MI , Boehnke M , Altshuler DM , Lindgren CM , Hirschhorn JN , Metspalu A , Freimer NB , Zeller T , Jalkanen S , Koskinen S , Raitakari O , Durbin R , MacArthur DG , Salomaa V , Ripatti S , Daly MJ , Palotie A , Sequencing Initiative Suomi (SISu) Project
Published On :2014 Jul
Journal Article


CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Authors :Manzini MC , Xiong L , Shaheen R , Tambunan DE , Di Costanzo S , Mitisalis V , Tischfield DJ , Cinquino A , Ghaziuddin M , Christian M , Jiang Q , Laurent S , Nanjiani ZA , Rasheed S , Hill RS , Lizarraga SB , Gleason D , Sabbagh D , Salih MA , Alkuraya FS , Walsh CA
Published On :2014 Aug 7
Journal Article


A novel missense mutation in oncostatin M receptor beta causing primary localized cutaneous amyloidosis.

Authors :Saeedi M , Ebrahim-Habibi A , Haghighi A , Zarrabi F , Amoli MM , Robati RM
Published On :2014
Journal Article


Fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome: postnatal outcomes of the first 100 patients.

Authors :Freud LR , McElhinney DB , Marshall AC , Marx GR , Friedman KG , del Nido PJ , Emani SM , Lafranchi T , Silva V , Wilkins-Haug LE , Benson CB , Lock JE , Tworetzky W
Published On :2014 Aug 19
Clinical Trial Journal Article


Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Authors :Chen PC , Yin J , Yu HW , Yuan T , Fernandez M , Yung CK , Trinh QM , Peltekova VD , Reid JG , Tworog-Dube E , Morgan MB , Muzny DM , Stein L , McPherson JD , Roberts AE , Gibbs RA , Neel BG , Kucherlapati R
Published On :2014 Aug 5
Journal Article


Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.

Authors :Robertson NG , O'Malley JT , Ong CA , Giersch AB , Shen J , Stankovic KM , Morton CC
Published On :2014 Dec
Journal Article


Concerning RNA-guided gene drives for the alteration of wild populations.

Authors :Esvelt KM , Smidler AL , Catteruccia F , Church GM
Published On :2014 Jul 17
Journal Article Review


Biotechnology. Regulating gene drives.

Authors :Oye KA , Esvelt K , Appleton E , Catteruccia F , Church G , Kuiken T , Lightfoot SB , McNamara J , Smidler A , Collins JP
Published On :2014 Aug 8
Journal Article


(Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies.

Authors :Hutchinson JN , Fagerness J , Kirby A , Reynolds R , Zak A , Gimelbrant A , Plenge R , Daly M , Chess A , Seddon JM
Published On :2014
Journal Article


Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center.

Authors :Walker MA , Slate N , Alejos A , Volpi S , Iyengar RS , Sweetser D , Sims KB , Walter JE
Published On :2014 Jul-Aug
Letter


EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome.

Authors :Heard TT , Ramgopal S , Picker J , Lincoln SA , Rotenberg A , Kothare SV
Published On :2014 Nov
Journal Article