De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Authors :Küry S
, Besnard T
, Ebstein F
, Khan TN
, Gambin T
, Douglas J
, Bacino CA
, Craigen WJ
, Sanders SJ
, Lehmann A
, Latypova X
, Khan K
, Pacault M
, Sacharow S
, Glaser K
, Bieth E
, Perrin-Sabourin L
, Jacquemont ML
, Cho MT
, Roeder E
, Denommé-Pichon AS
, Monaghan KG
, Yuan B
, Xia F
, Simon S
, Bonneau D
, Parent P
, Gilbert-Dussardier B
, Odent S
, Toutain A
, Pasquier L
, Barbouth D
, Shaw CA
, Patel A
, Smith JL
, Bi W
, Schmitt S
, Deb W
, Nizon M
, Mercier S
, Vincent M
, Rooryck C
, Malan V
, Briceño I
, Gómez A
, Nugent KM
, Gibson JB
, Cogné B
, Lupski JR
, Stessman HA
, Eichler EE
, Retterer K
, Yang Y
, Redon R
, Katsanis N
, Rosenfeld JA
, Kloetzel PM
, Golzio C
, Bézieau S
, Stankiewicz P
, Isidor B
Published On :2017 Apr 6
Journal Article
Published Erratum
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Authors :Manning A
, Highland HM
, Gasser J
, Sim X
, Tukiainen T
, Fontanillas P
, Grarup N
, Rivas MA
, Mahajan A
, Locke AE
, Cingolani P
, Pers TH
, Viñuela A
, Brown AA
, Wu Y
, Flannick J
, Fuchsberger C
, Gamazon ER
, Gaulton KJ
, Im HK
, Teslovich TM
, Blackwell TW
, Bork-Jensen J
, Burtt NP
, Chen Y
, Green T
, Hartl C
, Kang HM
, Kumar A
, Ladenvall C
, Ma C
, Moutsianas L
, Pearson RD
, Perry JRB
, Rayner NW
, Robertson NR
, Scott LJ
, van de Bunt M
, Eriksson JG
, Jula A
, Koskinen S
, Lehtimäki T
, Palotie A
, Raitakari OT
, Jacobs SBR
, Wessel J
, Chu AY
, Scott RA
, Goodarzi MO
, Blancher C
, Buck G
, Buck D
, Chines PS
, Gabriel S
, Gjesing AP
, Groves CJ
, Hollensted M
, Huyghe JR
, Jackson AU
, Jun G
, Justesen JM
, Mangino M
, Murphy J
, Neville M
, Onofrio R
, Small KS
, Stringham HM
, Trakalo J
, Banks E
, Carey J
, Carneiro MO
, DePristo M
, Farjoun Y
, Fennell T
, Goldstein JI
, Grant G
, Hrabé de Angelis M
, Maguire J
, Neale BM
, Poplin R
, Purcell S
, Schwarzmayr T
, Shakir K
, Smith JD
, Strom TM
, Wieland T
, Lindstrom J
, Brandslund I
, Christensen C
, Surdulescu GL
, Lakka TA
, Doney ASF
, Nilsson P
, Wareham NJ
, Langenberg C
, Varga TV
, Franks PW
, Rolandsson O
, Rosengren AH
, Farook VS
, Thameem F
, Puppala S
, Kumar S
, Lehman DM
, Jenkinson CP
, Curran JE
, Hale DE
, Fowler SP
, Arya R
, DeFronzo RA
, Abboud HE
, Syvänen AC
, Hicks PJ
, Palmer ND
, Ng MCY
, Bowden DW
, Freedman BI
, Esko T
, Mägi R
, Milani L
, Mihailov E
, Metspalu A
, Narisu N
, Kinnunen L
, Bonnycastle LL
, Swift A
, Pasko D
, Wood AR
, Fadista J
, Pollin TI
, Barzilai N
, Atzmon G
, Glaser B
, Thorand B
, Strauch K
, Peters A
, Roden M
, Müller-Nurasyid M
, Liang L
, Kriebel J
, Illig T
, Grallert H
, Gieger C
, Meisinger C
, Lannfelt L
, Musani SK
, Griswold M
, Taylor HA Jr
, Wilson G Sr
, Correa A
, Oksa H
, Scott WR
, Afzal U
, Tan ST
, Loh M
, Chambers JC
, Sehmi J
, Kooner JS
, Lehne B
, Cho YS
, Lee JY
, Han BG
, Käräjämäki A
, Qi Q
, Qi L
, Huang J
, Hu FB
, Melander O
, Orho-Melander M
, Below JE
, Aguilar D
, Wong TY
, Liu J
, Khor CC
, Chia KS
, Lim WY
, Cheng CY
, Chan E
, Tai ES
, Aung T
, Linneberg A
, Isomaa B
, Meitinger T
, Tuomi T
, Hakaste L
, Kravic J
, Jørgensen ME
, Lauritzen T
, Deloukas P
, Stirrups KE
, Owen KR
, Farmer AJ
, Frayling TM
, O'Rahilly SP
, Walker M
, Levy JC
, Hodgkiss D
, Hattersley AT
, Kuulasmaa T
, Stančáková A
, Barroso I
, Bharadwaj D
, Chan J
, Chandak GR
, Daly MJ
, Donnelly PJ
, Ebrahim SB
, Elliott P
, Fingerlin T
, Froguel P
, Hu C
, Jia W
, Ma RCW
, McVean G
, Park T
, Prabhakaran D
, Sandhu M
, Scott J
, Sladek R
, Tandon N
, Teo YY
, Zeggini E
, Watanabe RM
, Koistinen HA
, Kesaniemi YA
, Uusitupa M
, Spector TD
, Salomaa V
, Rauramaa R
, Palmer CNA
, Prokopenko I
, Morris AD
, Bergman RN
, Collins FS
, Lind L
, Ingelsson E
, Tuomilehto J
, Karpe F
, Groop L
, Jørgensen T
, Hansen T
, Pedersen O
, Kuusisto J
, Abecasis G
, Bell GI
, Blangero J
, Cox NJ
, Duggirala R
, Seielstad M
, Wilson JG
, Dupuis J
, Ripatti S
, Hanis CL
, Florez JC
, Mohlke KL
, Meigs JB
, Laakso M
, Morris AP
, Boehnke M
, Altshuler D
, McCarthy MI
, Gloyn AL
, Lindgren CM
Published On :2017 Jul
Journal Article