Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Authors :Camp KM
, Parisi MA
, Acosta PB
, Berry GT
, Bilder DA
, Blau N
, Bodamer OA
, Brosco JP
, Brown CS
, Burlina AB
, Burton BK
, Chang CS
, Coates PM
, Cunningham AC
, Dobrowolski SF
, Ferguson JH
, Franklin TD
, Frazier DM
, Grange DK
, Greene CL
, Groft SC
, Harding CO
, Howell RR
, Huntington KL
, Hyatt-Knorr HD
, Jevaji IP
, Levy HL
, Lichter-Konecki U
, Lindegren ML
, Lloyd-Puryear MA
, Matalon K
, MacDonald A
, McPheeters ML
, Mitchell JJ
, Mofidi S
, Moseley KD
, Mueller CM
, Mulberg AE
, Nerurkar LS
, Ogata BN
, Pariser AR
, Prasad S
, Pridjian G
, Rasmussen SA
, Reddy UM
, Rohr FJ
, Singh RH
, Sirrs SM
, Stremer SE
, Tagle DA
, Thompson SM
, Urv TK
, Utz JR
, van Spronsen F
, Vockley J
, Waisbren SE
, Weglicki LS
, White DA
, Whitley CB
, Wilfond BS
, Yannicelli S
, Young JM
Published On :2014 Jun
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Authors :Brownstein CA
, Beggs AH
, Homer N
, Merriman B
, Yu TW
, Flannery KC
, DeChene ET
, Towne MC
, Savage SK
, Price EN
, Holm IA
, Luquette LJ
, Lyon E
, Majzoub J
, Neupert P
, McCallie D Jr
, Szolovits P
, Willard HF
, Mendelsohn NJ
, Temme R
, Finkel RS
, Yum SW
, Medne L
, Sunyaev SR
, Adzhubey I
, Cassa CA
, de Bakker PI
, Duzkale H
, Dworzyński P
, Fairbrother W
, Francioli L
, Funke BH
, Giovanni MA
, Handsaker RE
, Lage K
, Lebo MS
, Lek M
, Leshchiner I
, MacArthur DG
, McLaughlin HM
, Murray MF
, Pers TH
, Polak PP
, Raychaudhuri S
, Rehm HL
, Soemedi R
, Stitziel NO
, Vestecka S
, Supper J
, Gugenmus C
, Klocke B
, Hahn A
, Schubach M
, Menzel M
, Biskup S
, Freisinger P
, Deng M
, Braun M
, Perner S
, Smith RJ
, Andorf JL
, Huang J
, Ryckman K
, Sheffield VC
, Stone EM
, Bair T
, Black-Ziegelbein EA
, Braun TA
, Darbro B
, DeLuca AP
, Kolbe DL
, Scheetz TE
, Shearer AE
, Sompallae R
, Wang K
, Bassuk AG
, Edens E
, Mathews K
, Moore SA
, Shchelochkov OA
, Trapane P
, Bossler A
, Campbell CA
, Heusel JW
, Kwitek A
, Maga T
, Panzer K
, Wassink T
, Van Daele D
, Azaiez H
, Booth K
, Meyer N
, Segal MM
, Williams MS
, Tromp G
, White P
, Corsmeier D
, Fitzgerald-Butt S
, Herman G
, Lamb-Thrush D
, McBride KL
, Newsom D
, Pierson CR
, Rakowsky AT
, Maver A
, Lovrečić L
, Palandačić A
, Peterlin B
, Torkamani A
, Wedell A
, Huss M
, Alexeyenko A
, Lindvall JM
, Magnusson M
, Nilsson D
, Stranneheim H
, Taylan F
, Gilissen C
, Hoischen A
, van Bon B
, Yntema H
, Nelen M
, Zhang W
, Sager J
, Zhang L
, Blair K
, Kural D
, Cariaso M
, Lennon GG
, Javed A
, Agrawal S
, Ng PC
, Sandhu KS
, Krishna S
, Veeramachaneni V
, Isakov O
, Halperin E
, Friedman E
, Shomron N
, Glusman G
, Roach JC
, Caballero J
, Cox HC
, Mauldin D
, Ament SA
, Rowen L
, Richards DR
, San Lucas FA
, Gonzalez-Garay ML
, Caskey CT
, Bai Y
, Huang Y
, Fang F
, Zhang Y
, Wang Z
, Barrera J
, Garcia-Lobo JM
, González-Lamuño D
, Llorca J
, Rodriguez MC
, Varela I
, Reese MG
, De La Vega FM
, Kiruluta E
, Cargill M
, Hart RK
, Sorenson JM
, Lyon GJ
, Stevenson DA
, Bray BE
, Moore BM
, Eilbeck K
, Yandell M
, Zhao H
, Hou L
, Chen X
, Yan X
, Chen M
, Li C
, Yang C
, Gunel M
, Li P
, Kong Y
, Alexander AC
, Albertyn ZI
, Boycott KM
, Bulman DE
, Gordon PM
, Innes AM
, Knoppers BM
, Majewski J
, Marshall CR
, Parboosingh JS
, Sawyer SL
, Samuels ME
, Schwartzentruber J
, Kohane IS
, Margulies DM
Published On :2014 Mar 25
Journal Article