Etiology
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Abel EL
Drug Alcohol Depend
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Diagnosis
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Hum Mutat
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Brouwer AFJ,
van der Burgt I,
Campeau PM,
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Chrzanowska K,
Chu YWY,
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van Haeringen A,
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den Hollander NS,
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Kato M,
Kayserili H,
Kersseboom R,
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Marcelis C,
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Tanabe S,
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Am J Med Genet C Semin Med Genet
2014 Sep;166C(3):302-14.
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Therapy
Harris J,
Mahone EM,
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Prognosis
Hiatt SM,
Trajkova S,
Sebastiano MR,
Partridge EC,
Abidi FE,
Anderson A,
Ansar M,
Antonarakis SE,
Azadi A,
Bachmann-Gagescu R,
Bartuli A,
Benech C,
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Brusco A,
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Macchiaiolo M,
Magner M,
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Mattioli F,
McEown M,
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Thomas Q,
Motta M,
Gautier T,
Zaki MS,
Ciolfi A,
Paccaud J,
Girodon F,
Boespflug-Tanguy O,
Besnard T,
Kerkhof J,
McConkey H,
Masson A,
Denommé-Pichon AS,
Cogné B,
Trochu E,
Vignard V,
El It F,
Rodan LH,
Alkhateeb MA,
Jamra RA,
Duplomb L,
Tisserant E,
Duffourd Y,
Bruel AL,
Jackson A,
Banka S,
McEntagart M,
Saggar A,
Gleeson JG,
Sievert D,
Bae H,
Lee BH,
Kwon K,
Seo GH,
Lee H,
Saeed A,
Anjum N,
Cheema H,
Alawbathani S,
Khan I,
Pinto-Basto J,
Teoh J,
Wong J,
Sahari UBM,
Houlden H,
Zhelcheska K,
Pannetier M,
Awad MA,
Lesieur-Sebellin M,
Barcia G,
Amiel J,
Delanne J,
Philippe C,
Faivre L,
Odent S,
Bertoli-Avella A,
Thauvin C,
Sadikovic B,
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Govin J,
Tartaglia M,
Vitobello A
Am J Hum Genet
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PMID: 36044892Free PMC Article
Cordelli DM,
Di Pisa V,
Fetta A,
Garavelli L,
Maltoni L,
Soliani L,
Ricci E
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Yates TM,
Drucker M,
Barnicoat A,
Low K,
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Fry AE,
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O'Driscoll M,
Charles P,
Cox H,
Marey I,
Keren B,
Rinne T,
McEntagart M,
Ramachandran V,
Drury S,
Vansenne F,
Sival DA,
Herkert JC,
Callewaert B,
Tan WH,
Balasubramanian M
Hum Mutat
2020 May;41(5):1042-1050.
Epub 2020 Mar 5
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PMID: 32097528
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Djuric O,
Caraffi SG,
Santodirocco D,
Pollazzon M,
Rosato S,
Cordelli DM,
Abdalla E,
Accorsi P,
Adam MP,
Ajmone PF,
Badura-Stronka M,
Baldo C,
Baldi M,
Bayat A,
Bigoni S,
Bonvicini F,
Breckpot J,
Callewaert B,
Cocchi G,
Cuturilo G,
De Brasi D,
Devriendt K,
Dinulos MB,
Hjortshøj TD,
Epifanio R,
Faravelli F,
Fiumara A,
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Grønborg S,
Iodice A,
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Kuburovic V,
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Mammi I,
Mari F,
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Clinical prediction guides
Shepherdson JL,
Hutchison K,
Don DW,
McGillivray G,
Choi TI,
Allan CA,
Amor DJ,
Banka S,
Basel DG,
Buch LD,
Carere DA,
Carroll R,
Clayton-Smith J,
Crawford A,
Dunø M,
Faivre L,
Gilfillan CP,
Gold NB,
Gripp KW,
Hobson E,
Holtz AM,
Innes AM,
Isidor B,
Jackson A,
Katsonis P,
Amel Riazat Kesh L;
Genomics England Research Consortium,
Küry S,
Lecoquierre F,
Lockhart P,
Maraval J,
Matsumoto N,
McCarrier J,
McCarthy J,
Miyake N,
Moey LH,
Németh AH,
Østergaard E,
Patel R,
Pope K,
Posey JE,
Schnur RE,
Shaw M,
Stolerman E,
Taylor JP,
Wadman E,
Wakeling E,
White SM,
Wong LC,
Lupski JR,
Lichtarge O,
Corbett MA,
Gecz J,
Nicolet CM,
Farnham PJ,
Kim CH,
Shinawi M
Am J Hum Genet
2024 Mar 7;111(3):487-508.
Epub 2024 Feb 6
doi: 10.1016/j.ajhg.2024.01.007.
PMID: 38325380Free PMC Article
Hiatt SM,
Trajkova S,
Sebastiano MR,
Partridge EC,
Abidi FE,
Anderson A,
Ansar M,
Antonarakis SE,
Azadi A,
Bachmann-Gagescu R,
Bartuli A,
Benech C,
Berkowitz JL,
Betti MJ,
Brusco A,
Cannon A,
Caron G,
Chen Y,
Cochran ME,
Coleman TF,
Crenshaw MM,
Cuisset L,
Curry CJ,
Darvish H,
Demirdas S,
Descartes M,
Douglas J,
Dyment DA,
Elloumi HZ,
Ermondi G,
Faoucher M,
Farrow EG,
Felker SA,
Fisher H,
Hurst ACE,
Joset P,
Kelly MA,
Kmoch S,
Leadem BR,
Lyons MJ,
Macchiaiolo M,
Magner M,
Mandrile G,
Mattioli F,
McEown M,
Meadows SK,
Medne L,
Meeks NJL,
Montgomery S,
Napier MP,
Natowicz M,
Newberry KM,
Niceta M,
Noskova L,
Nowak CB,
Noyes AG,
Osmond M,
Prijoles EJ,
Pugh J,
Pullano V,
Quélin C,
Rahimi-Aliabadi S,
Rauch A,
Redon S,
Reymond A,
Schwager CR,
Sellars EA,
Scheuerle AE,
Shukarova-Angelovska E,
Skraban C,
Stolerman E,
Sullivan BR,
Tartaglia M,
Thiffault I,
Uguen K,
Umaña LA,
van Bever Y,
van der Crabben SN,
van Slegtenhorst MA,
Waisfisz Q,
Washington C,
Rodan LH,
Myers RM,
Cooper GM
Am J Hum Genet
2023 Feb 2;110(2):215-227.
Epub 2022 Dec 30
doi: 10.1016/j.ajhg.2022.12.007.
PMID: 36586412Free PMC Article
Thomas Q,
Motta M,
Gautier T,
Zaki MS,
Ciolfi A,
Paccaud J,
Girodon F,
Boespflug-Tanguy O,
Besnard T,
Kerkhof J,
McConkey H,
Masson A,
Denommé-Pichon AS,
Cogné B,
Trochu E,
Vignard V,
El It F,
Rodan LH,
Alkhateeb MA,
Jamra RA,
Duplomb L,
Tisserant E,
Duffourd Y,
Bruel AL,
Jackson A,
Banka S,
McEntagart M,
Saggar A,
Gleeson JG,
Sievert D,
Bae H,
Lee BH,
Kwon K,
Seo GH,
Lee H,
Saeed A,
Anjum N,
Cheema H,
Alawbathani S,
Khan I,
Pinto-Basto J,
Teoh J,
Wong J,
Sahari UBM,
Houlden H,
Zhelcheska K,
Pannetier M,
Awad MA,
Lesieur-Sebellin M,
Barcia G,
Amiel J,
Delanne J,
Philippe C,
Faivre L,
Odent S,
Bertoli-Avella A,
Thauvin C,
Sadikovic B,
Reversade B,
Maroofian R,
Govin J,
Tartaglia M,
Vitobello A
Am J Hum Genet
2022 Oct 6;109(10):1909-1922.
Epub 2022 Aug 30
doi: 10.1016/j.ajhg.2022.08.008.
PMID: 36044892Free PMC Article
Yates TM,
Drucker M,
Barnicoat A,
Low K,
Gerkes EH,
Fry AE,
Parker MJ,
O'Driscoll M,
Charles P,
Cox H,
Marey I,
Keren B,
Rinne T,
McEntagart M,
Ramachandran V,
Drury S,
Vansenne F,
Sival DA,
Herkert JC,
Callewaert B,
Tan WH,
Balasubramanian M
Hum Mutat
2020 May;41(5):1042-1050.
Epub 2020 Mar 5
doi: 10.1002/humu.24001.
PMID: 32097528
van der Sluijs PJ,
Jansen S,
Vergano SA,
Adachi-Fukuda M,
Alanay Y,
AlKindy A,
Baban A,
Bayat A,
Beck-Wödl S,
Berry K,
Bijlsma EK,
Bok LA,
Brouwer AFJ,
van der Burgt I,
Campeau PM,
Canham N,
Chrzanowska K,
Chu YWY,
Chung BHY,
Dahan K,
De Rademaeker M,
Destree A,
Dudding-Byth T,
Earl R,
Elcioglu N,
Elias ER,
Fagerberg C,
Gardham A,
Gener B,
Gerkes EH,
Grasshoff U,
van Haeringen A,
Heitink KR,
Herkert JC,
den Hollander NS,
Horn D,
Hunt D,
Kant SG,
Kato M,
Kayserili H,
Kersseboom R,
Kilic E,
Krajewska-Walasek M,
Lammers K,
Laulund LW,
Lederer D,
Lees M,
López-González V,
Maas S,
Mancini GMS,
Marcelis C,
Martinez F,
Maystadt I,
McGuire M,
McKee S,
Mehta S,
Metcalfe K,
Milunsky J,
Mizuno S,
Moeschler JB,
Netzer C,
Ockeloen CW,
Oehl-Jaschkowitz B,
Okamoto N,
Olminkhof SNM,
Orellana C,
Pasquier L,
Pottinger C,
Riehmer V,
Robertson SP,
Roifman M,
Rooryck C,
Ropers FG,
Rosello M,
Ruivenkamp CAL,
Sagiroglu MS,
Sallevelt SCEH,
Sanchis Calvo A,
Simsek-Kiper PO,
Soares G,
Solaeche L,
Sonmez FM,
Splitt M,
Steenbeek D,
Stegmann APA,
Stumpel CTRM,
Tanabe S,
Uctepe E,
Utine GE,
Veenstra-Knol HE,
Venkateswaran S,
Vilain C,
Vincent-Delorme C,
Vulto-van Silfhout AT,
Wheeler P,
Wilson GN,
Wilson LC,
Wollnik B,
Kosho T,
Wieczorek D,
Eichler E,
Pfundt R,
de Vries BBA,
Clayton-Smith J,
Santen GWE
Genet Med
2019 Jun;21(6):1295-1307.
Epub 2018 Nov 8
doi: 10.1038/s41436-018-0330-z.
PMID: 30349098Free PMC Article