Etiology
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Zhang L,
Xu X,
Sun K,
Sun J,
Wang Y,
Liu Y,
Yang N,
Tao C,
Cai B,
Shi G,
Zhang F,
Shi J
Am J Med Genet A
2019 Jun;179(6):936-939.
Epub 2019 Mar 18
doi: 10.1002/ajmg.a.61088.
PMID: 30883014
Moutton S,
Bruel AL,
Assoum M,
Chevarin M,
Sarrazin E,
Goizet C,
Guerrot AM,
Charollais A,
Charles P,
Heron D,
Faudet A,
Houcinat N,
Vitobello A,
Tran-Mau-Them F,
Philippe C,
Duffourd Y,
Thauvin-Robinet C,
Faivre L
Clin Genet
2018 Jun;93(6):1172-1178.
Epub 2018 Apr 14
doi: 10.1111/cge.13243.
PMID: 29460436
Callier P,
Aral B,
Hanna N,
Lambert S,
Dindy H,
Ragon C,
Payet M,
Collod-Beroud G,
Carmignac V,
Delrue MA,
Goizet C,
Philip N,
Busa T,
Dulac Y,
Missotte I,
Sznajer Y,
Toutain A,
Francannet C,
Megarbane A,
Julia S,
Edouard T,
Sarda P,
Amiel J,
Lyonnet S,
Cormier-Daire V,
Gilbert B,
Jacquette A,
Heron D,
Collignon P,
Lacombe D,
Morice-Picard F,
Jouk PS,
Cusin V,
Willems M,
Sarrazin E,
Amarof K,
Coubes C,
Addor MC,
Journel H,
Colin E,
Khau Van Kien P,
Baumann C,
Leheup B,
Martin-Coignard D,
Doco-Fenzy M,
Goldenberg A,
Plessis G,
Thevenon J,
Pasquier L,
Odent S,
Vabres P,
Huet F,
Marle N,
Mosca-Boidron AL,
Mugneret F,
Gauthier S,
Binquet C,
Thauvin-Robinet C,
Jondeau G,
Boileau C,
Faivre L
Clin Genet
2013 Dec;84(6):507-21.
Epub 2013 Mar 18
doi: 10.1111/cge.12094.
PMID: 23506379
Van Buggenhout GJ,
Trommelen JC,
Brunner HG,
Hamel BC,
Fryns J
Ann Genet
2001 Jan-Mar;44(1):47-55.
doi: 10.1016/s0003-3995(01)01038-3.
PMID: 11334618
Diagnosis
Averdunk L,
Thimm E,
Klee D,
Haack TB,
Distelmaier F
J Inherit Metab Dis
2023 Nov;46(6):1206-1208.
Epub 2023 Oct 1
doi: 10.1002/jimd.12680.
PMID: 37718464
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Schirwani S,
Wakeling E,
Smith K;
DDD Study,
Balasubramanian M
Am J Med Genet A
2018 May;176(5):1238-1244.
doi: 10.1002/ajmg.a.38683.
PMID: 29681091
Callier P,
Aral B,
Hanna N,
Lambert S,
Dindy H,
Ragon C,
Payet M,
Collod-Beroud G,
Carmignac V,
Delrue MA,
Goizet C,
Philip N,
Busa T,
Dulac Y,
Missotte I,
Sznajer Y,
Toutain A,
Francannet C,
Megarbane A,
Julia S,
Edouard T,
Sarda P,
Amiel J,
Lyonnet S,
Cormier-Daire V,
Gilbert B,
Jacquette A,
Heron D,
Collignon P,
Lacombe D,
Morice-Picard F,
Jouk PS,
Cusin V,
Willems M,
Sarrazin E,
Amarof K,
Coubes C,
Addor MC,
Journel H,
Colin E,
Khau Van Kien P,
Baumann C,
Leheup B,
Martin-Coignard D,
Doco-Fenzy M,
Goldenberg A,
Plessis G,
Thevenon J,
Pasquier L,
Odent S,
Vabres P,
Huet F,
Marle N,
Mosca-Boidron AL,
Mugneret F,
Gauthier S,
Binquet C,
Thauvin-Robinet C,
Jondeau G,
Boileau C,
Faivre L
Clin Genet
2013 Dec;84(6):507-21.
Epub 2013 Mar 18
doi: 10.1111/cge.12094.
PMID: 23506379
Van Buggenhout G,
Fryns JP
Orphanet J Rare Dis
2006 Jul 10;1:26.
doi: 10.1186/1750-1172-1-26.
PMID: 16831221Free PMC Article
Therapy
Averdunk L,
Thimm E,
Klee D,
Haack TB,
Distelmaier F
J Inherit Metab Dis
2023 Nov;46(6):1206-1208.
Epub 2023 Oct 1
doi: 10.1002/jimd.12680.
PMID: 37718464
Arnaud P,
Racine C,
Hanna N,
Thevenon J,
Alessandri JL,
Bonneau D,
Clayton-Smith J,
Coubes C,
Delobel B,
Dupuis-Girod S,
Gouya L,
Odent S,
Carmignac V,
Thauvin-Robinet C,
Le Goff C,
Jondeau G,
Boileau C,
Faivre L
Hum Genet
2020 Apr;139(4):461-472.
Epub 2020 Jan 24
doi: 10.1007/s00439-019-02102-9.
PMID: 31980905
Prognosis
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Arnaud P,
Racine C,
Hanna N,
Thevenon J,
Alessandri JL,
Bonneau D,
Clayton-Smith J,
Coubes C,
Delobel B,
Dupuis-Girod S,
Gouya L,
Odent S,
Carmignac V,
Thauvin-Robinet C,
Le Goff C,
Jondeau G,
Boileau C,
Faivre L
Hum Genet
2020 Apr;139(4):461-472.
Epub 2020 Jan 24
doi: 10.1007/s00439-019-02102-9.
PMID: 31980905
Collins DT,
Mannina EM,
Mendonca M
Am J Med Genet A
2015 Oct;167A(10):2444-6.
Epub 2015 Jun 19
doi: 10.1002/ajmg.a.37204.
PMID: 26097012
Masurel-Paulet A,
Kalscheuer VM,
Lebrun N,
Hu H,
Levy F,
Thauvin-Robinet C,
Darmency-Stamboul V,
El Chehadeh S,
Thevenon J,
Chancenotte S,
Ruffier-Bourdet M,
Bonnet M,
Pinoit JM,
Huet F,
Desportes V,
Chelly J,
Faivre L
Am J Med Genet A
2014 Mar;164A(3):789-95.
Epub 2013 Dec 19
doi: 10.1002/ajmg.a.36348.
PMID: 24357419
Van Buggenhout G,
Fryns JP
Orphanet J Rare Dis
2006 Jul 10;1:26.
doi: 10.1186/1750-1172-1-26.
PMID: 16831221Free PMC Article
Clinical prediction guides
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Chevarin M,
Duffourd Y,
A Barnard R,
Moutton S,
Lecoquierre F,
Daoud F,
Kuentz P,
Cabret C,
Thevenon J,
Gautier E,
Callier P,
St-Onge J,
Jouan T,
Lacombe D,
Delrue MA,
Goizet C,
Morice-Picard F,
Van-Gils J,
Munnich A,
Lyonnet S,
Cormier-Daire V,
Baujat G,
Holder M,
Petit F,
Leheup B,
Odent S,
Jouk PS,
Lopez G,
Geneviève D,
Collignon P,
Martin-Coignard D,
Jacquette A,
Perrin L,
Putoux A,
Sarrazin E,
Amarof K,
Missotte I,
Coubes C,
Jagadeesh S,
Lapi E,
Demurger F,
Goldenberg A,
Doco-Fenzy M,
Mignot C,
Héron D,
Jean-Marçais N,
Masurel A,
El Chehadeh S,
Marle N,
Huet F,
Binquet C,
Collod-Beroud G,
Arnaud P,
Hanna N,
Boileau C,
Jondeau G,
Olaso R,
Lechner D,
Poe C,
Assoum M,
Carmignac V,
Duplomb L,
Tran Mau-Them F,
Philippe C,
Vitobello A,
Bruel AL,
Boland A,
Deleuze JF,
Thauvin-Robinet C,
Rivière JB,
O'Roak BJ,
Faivre L
J Med Genet
2020 Jul;57(7):466-474.
Epub 2020 Apr 10
doi: 10.1136/jmedgenet-2019-106425.
PMID: 32277047
Huijmans JGM,
Schot R,
de Klerk JBC,
Williams M,
de Coo RFM,
Duran M,
Verheijen FW,
van Slegtenhorst M,
Mancini GMS
Am J Med Genet A
2017 Jun;173(6):1601-1606.
doi: 10.1002/ajmg.a.38240.
PMID: 28544736
Van Buggenhout GJ,
Trommelen JC,
Brunner HG,
Hamel BC,
Fryns J
Ann Genet
2001 Jan-Mar;44(1):47-55.
doi: 10.1016/s0003-3995(01)01038-3.
PMID: 11334618
Lujan JE,
Carlin ME,
Lubs HA
Am J Med Genet
1984 Jan;17(1):311-22.
doi: 10.1002/ajmg.1320170124.
PMID: 6711603