Authors :Jost C
, Busa T
, Wegner D
, Shinawi M
, Schaefer E
, Piton A
, Schluth-Bolard C
, Charles P
, Keren B
, Mayerhanser K
, Brunet T
, Schatz U
, Neil JE
, Walsh CA
, Sisco K
, J Paul A
, Undiagnosed Diseases Network
, Lee C
, Dykzeul N
, Bonner D
, Bernstein JA
, Sutcliffe E
, Wentzensen IM
, Froehlich C
, Liebler K
, Galvin Parton P
, Weiss-Burns J
, Sagnol C
, Delanne J
, Racine C
, Thauvin-Robinet C
, Safraou H
, Tran Mau-Them F
, Duffourd Y
, Bruel AL
, Faivre L
Authors :Del Rosario MC
, Walmsley SA
, Harrison BW
, Stephens CT
, Zettler B
, Rivera-Cruz G
, Agrawal P
, Brower A
, Chigbu S
, Christensen KD
, Genetti CA
, Givens R
, Gold NB
, Reeves IV
, Schichter I
, Shariat H
, Simon S
, Smith HS
, Uveges M
, Green RC
, Holm IA
, Pereira S
Authors :Bouman A
, Gaasterland CMW
, Sloof-Enthoven C
, Draksler TZ
, Rots D
, Geelen JM
, Morison LD
, Morgan AT
, Wicher D
, Rivero S
, Fernández-Ulibarri I
, Drake J
, O'Donnell Luria A
, Pickup L
, Shalhoub C
, Milani D
, Hennekam RC
, Tumiene B
, Dies KA
, Garavelli L
, Bedeschi MF
, Danieli A
, van Renssen LV
, Palmer EE
, Grosdemouge I
, Hadzsiev K
, Ousager LB
, Frazier Z
, Chopra M
, Szakszon K
, Ewans L
, Srivastava S
, Balbo N
, Caterino E
, Schenck A
, Smith R
, Boonstra FN
, van Till SAL
, Vasireddi SK
, Brian Chung HY
, Klein Haneveld MJ
, Vyshka K
, ERN Ithaca Guideline Working group
, Kleefstra T
Authors :Kamihara J
, Fisher L
, Schienda J
, Vanderwall R
, Snir M
, Snir G
, Simmons E
, Khalaj A
, Goler E
, Hamilton KV
, Porter CC
, Pencheva B
, Schiffman JD
, Maese LD
, Kohlmann W
, Henderson TO
, Garber JE
, Diller LR
, Desai AV
, Savage S
, Klosky JL
, Rana HQ
, Mack JW
Authors :Hylton NK
, Kang DJ
, Decker SC
, Exposito-Alonso D
, Cambridge CN
, Golinski SR
, Soriano KI
, Neil JE
, Talukdar M
, Andersen RE
, Buckner TM
, Qian X
, Doddi AD
, Braddock SR
, DeGennaro EM
, Akula SK
, Simo S
, Smith RS
, Walsh CA
Authors :van Spronsen F
, Peters H
, Margvelashvili L
, Agladze D
, Schwartz IVD
, Giżewska M
, Hamazaki T
, Guilder L
, MacDonald A
, Vijay S
, Inwood A
, Minami M
, Fjellbirkeland O
, Lund A
, Lah M
, Thomas JA
, Longo N
, Kiykim E
, Ishige M
, Burlina A
, Bélanger-Quintana A
, Rutsch F
, Opladen T
, Mungan H
, Ezgü F
, Bratkovic D
, Chakrapani A
, Ito T
, Guimas A
, Zori R
, Tchan M
, Sacharow S
, Oliveira A
, Janeiro P
, Guerra IC
, Plana JC
, Yıldız Y
, Canda E
, Khan A
, Vockley J
, Breilyn MS
, Manti F
, Larkin A
, Hughes C
, Liu E
, Gao L
, Ingalls K
, Smith N
, Muntau AC