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Murphy D,
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Banka S,
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Wright T,
Redman M,
Bassetti JA,
Nizon M,
Cogne B,
Jamra RA,
Bartolomaeus T,
Heruth M,
Krey I,
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Wieczorek D,
Gattermann F,
Mcentagart M,
Goldenberg A,
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Butterfield R,
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Chong WK,
Steel D,
Sanchis-Juan A,
Ngoh A,
Trump N,
Meyer E,
Vasques X,
Rankin J,
Allain MW,
Applegate CD,
Attaripour Isfahani S,
Baleine J,
Balint B,
Bassetti JA,
Baple EL,
Bhatia KP,
Blanchet C,
Burglen L,
Cambonie G,
Seng EC,
Bastaraud SC,
Cyprien F,
Coubes C,
d'Hardemare V;
Deciphering Developmental Disorders Study,
Doja A,
Dorison N,
Doummar D,
Dy-Hollins ME,
Farrelly E,
Fitzpatrick DR,
Fearon C,
Fieg EL,
Fogel BL,
Forman EB,
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Genomics England Research Consortium,
Gahl WA,
Galosi S,
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Graves TD,
Gregory A,
Hallett M,
Hasegawa H,
Hayflick SJ,
Hamosh A,
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Krier JB,
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Laurencin C,
Lee H,
Lesca G,
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Martinez-Agosto JA,
Milesi C,
Mills KA,
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Morales-Briceno H;
NIHR BioResource,
Ostergaard JR,
Pal S,
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Petersen AK,
Polo G,
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Schaefer E,
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Verma IC,
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Wilson JL,
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Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Pérez-Dueñas B,
Gorman K,
Marcé-Grau A,
Ortigoza-Escobar JD,
Macaya A,
Danti FR,
Barwick K,
Papandreou A,
Ng J,
Meyer E,
Mohammad SS,
Smith M,
Muntoni F,
Munot P,
Uusimaa J,
Vieira P,
Sheridan E,
Guerrini R,
Cobben J,
Yilmaz S,
De Grandis E,
Dale RC,
Pons R,
Peall KJ,
Leuzzi V,
Kurian MA
Mov Disord
2022 Nov;37(11):2197-2209.
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PMID: 36054588Free PMC Article
Cif L,
Demailly D,
Lin JP,
Barwick KE,
Sa M,
Abela L,
Malhotra S,
Chong WK,
Steel D,
Sanchis-Juan A,
Ngoh A,
Trump N,
Meyer E,
Vasques X,
Rankin J,
Allain MW,
Applegate CD,
Attaripour Isfahani S,
Baleine J,
Balint B,
Bassetti JA,
Baple EL,
Bhatia KP,
Blanchet C,
Burglen L,
Cambonie G,
Seng EC,
Bastaraud SC,
Cyprien F,
Coubes C,
d'Hardemare V;
Deciphering Developmental Disorders Study,
Doja A,
Dorison N,
Doummar D,
Dy-Hollins ME,
Farrelly E,
Fitzpatrick DR,
Fearon C,
Fieg EL,
Fogel BL,
Forman EB,
Fox RG;
Genomics England Research Consortium,
Gahl WA,
Galosi S,
Gonzalez V,
Graves TD,
Gregory A,
Hallett M,
Hasegawa H,
Hayflick SJ,
Hamosh A,
Hully M,
Jansen S,
Jeong SY,
Krier JB,
Krystal S,
Kumar KR,
Laurencin C,
Lee H,
Lesca G,
François LL,
Lynch T,
Mahant N,
Martinez-Agosto JA,
Milesi C,
Mills KA,
Mondain M,
Morales-Briceno H;
NIHR BioResource,
Ostergaard JR,
Pal S,
Pallais JC,
Pavillard F,
Perrigault PF,
Petersen AK,
Polo G,
Poulen G,
Rinne T,
Roujeau T,
Rogers C,
Roubertie A,
Sahagian M,
Schaefer E,
Selim L,
Selway R,
Sharma N,
Signer R,
Soldatos AG,
Stevenson DA,
Stewart F,
Tchan M;
Undiagnosed Diseases Network,
Verma IC,
de Vries BBA,
Wilson JL,
Wong DA,
Zaitoun R,
Zhen D,
Znaczko A,
Dale RC,
de Gusmão CM,
Friedman J,
Fung VSC,
King MD,
Mohammad SS,
Rohena L,
Waugh JL,
Toro C,
Raymond FL,
Topf M,
Coubes P,
Gorman KM,
Kurian MA
Brain
2020 Dec 5;143(11):3242-3261.
doi: 10.1093/brain/awaa304.
PMID: 33150406Free PMC Article
Steel D,
Kurian MA
Curr Opin Neurol
2020 Aug;33(4):500-507.
doi: 10.1097/WCO.0000000000000831.
PMID: 32657892