Etiology
Lui JC,
Baron J
J Clin Endocrinol Metab
2024 Jan 18;109(2):312-320.
doi: 10.1210/clinem/dgad420.
PMID: 37450557Free PMC Article
Aref-Eshghi E,
Kerkhof J,
Pedro VP;
Groupe DI France,
Barat-Houari M,
Ruiz-Pallares N,
Andrau JC,
Lacombe D,
Van-Gils J,
Fergelot P,
Dubourg C,
Cormier-Daire V,
Rondeau S,
Lecoquierre F,
Saugier-Veber P,
Nicolas G,
Lesca G,
Chatron N,
Sanlaville D,
Vitobello A,
Faivre L,
Thauvin-Robinet C,
Laumonnier F,
Raynaud M,
Alders M,
Mannens M,
Henneman P,
Hennekam RC,
Velasco G,
Francastel C,
Ulveling D,
Ciolfi A,
Pizzi S,
Tartaglia M,
Heide S,
Héron D,
Mignot C,
Keren B,
Whalen S,
Afenjar A,
Bienvenu T,
Campeau PM,
Rousseau J,
Levy MA,
Brick L,
Kozenko M,
Balci TB,
Siu VM,
Stuart A,
Kadour M,
Masters J,
Takano K,
Kleefstra T,
de Leeuw N,
Field M,
Shaw M,
Gecz J,
Ainsworth PJ,
Lin H,
Rodenhiser DI,
Friez MJ,
Tedder M,
Lee JA,
DuPont BR,
Stevenson RE,
Skinner SA,
Schwartz CE,
Genevieve D,
Sadikovic B
Am J Hum Genet
2020 Mar 5;106(3):356-370.
Epub 2020 Feb 27
doi: 10.1016/j.ajhg.2020.01.019.
PMID: 32109418Free PMC Article
Cogné B,
Ehresmann S,
Beauregard-Lacroix E,
Rousseau J,
Besnard T,
Garcia T,
Petrovski S,
Avni S,
McWalter K,
Blackburn PR,
Sanders SJ,
Uguen K,
Harris J,
Cohen JS,
Blyth M,
Lehman A,
Berg J,
Li MH,
Kini U,
Joss S,
von der Lippe C,
Gordon CT,
Humberson JB,
Robak L,
Scott DA,
Sutton VR,
Skraban CM,
Johnston JJ,
Poduri A,
Nordenskjöld M,
Shashi V,
Gerkes EH,
Bongers EMHF,
Gilissen C,
Zarate YA,
Kvarnung M,
Lally KP,
Kulch PA,
Daniels B,
Hernandez-Garcia A,
Stong N,
McGaughran J,
Retterer K,
Tveten K,
Sullivan J,
Geisheker MR,
Stray-Pedersen A,
Tarpinian JM,
Klee EW,
Sapp JC,
Zyskind J,
Holla ØL,
Bedoukian E,
Filippini F,
Guimier A,
Picard A,
Busk ØL,
Punetha J,
Pfundt R,
Lindstrand A,
Nordgren A,
Kalb F,
Desai M,
Ebanks AH,
Jhangiani SN,
Dewan T,
Coban Akdemir ZH,
Telegrafi A,
Zackai EH,
Begtrup A,
Song X,
Toutain A,
Wentzensen IM,
Odent S,
Bonneau D,
Latypova X,
Deb W;
CAUSES Study,
Redon S,
Bilan F,
Legendre M,
Troyer C,
Whitlock K,
Caluseriu O,
Murphree MI,
Pichurin PN,
Agre K,
Gavrilova R,
Rinne T,
Park M,
Shain C,
Heinzen EL,
Xiao R,
Amiel J,
Lyonnet S,
Isidor B,
Biesecker LG,
Lowenstein D,
Posey JE,
Denommé-Pichon AS;
Deciphering Developmental Disorders study,
Férec C,
Yang XJ,
Rosenfeld JA,
Gilbert-Dussardier B,
Audebert-Bellanger S,
Redon R,
Stessman HAF,
Nellaker C,
Yang Y,
Lupski JR,
Goldstein DB,
Eichler EE,
Bolduc F,
Bézieau S,
Küry S,
Campeau PM
Am J Hum Genet
2019 Mar 7;104(3):530-541.
Epub 2019 Feb 28
doi: 10.1016/j.ajhg.2019.01.010.
PMID: 30827496Free PMC Article
Al Shehhi M,
Forman EB,
Fitzgerald JE,
McInerney V,
Krawczyk J,
Shen S,
Betts DR,
Ardle LM,
Gorman KM,
King MD,
Green A,
Gallagher L,
Lynch SA
Eur J Med Genet
2019 Mar;62(3):204-209.
Epub 2018 Jul 18
doi: 10.1016/j.ejmg.2018.07.015.
PMID: 30031152
Van Dijck A,
Vulto-van Silfhout AT,
Cappuyns E,
van der Werf IM,
Mancini GM,
Tzschach A,
Bernier R,
Gozes I,
Eichler EE,
Romano C,
Lindstrand A,
Nordgren A;
ADNP Consortium,
Kvarnung M,
Kleefstra T,
de Vries BBA,
Küry S,
Rosenfeld JA,
Meuwissen ME,
Vandeweyer G,
Kooy RF
Biol Psychiatry
2019 Feb 15;85(4):287-297.
Epub 2018 Mar 15
doi: 10.1016/j.biopsych.2018.02.1173.
PMID: 29724491Free PMC Article
Diagnosis
Levy T,
Siper PM,
Lerman B,
Halpern D,
Zweifach J,
Belani P,
Thurm A,
Kleefstra T,
Berry-Kravis E,
Buxbaum JD,
Grice DE
Pediatr Neurol
2023 Jan;138:87-94.
Epub 2022 Oct 27
doi: 10.1016/j.pediatrneurol.2022.10.009.
PMID: 36434914
Carvalho LML,
Pinto CF,
de Oliveira Scliar M,
Otto PA,
Krepischi ACV,
Rosenberg C
Am J Med Genet A
2023 Feb;191(2):570-574.
Epub 2022 Nov 5
doi: 10.1002/ajmg.a.63032.
PMID: 36333968
Aref-Eshghi E,
Kerkhof J,
Pedro VP;
Groupe DI France,
Barat-Houari M,
Ruiz-Pallares N,
Andrau JC,
Lacombe D,
Van-Gils J,
Fergelot P,
Dubourg C,
Cormier-Daire V,
Rondeau S,
Lecoquierre F,
Saugier-Veber P,
Nicolas G,
Lesca G,
Chatron N,
Sanlaville D,
Vitobello A,
Faivre L,
Thauvin-Robinet C,
Laumonnier F,
Raynaud M,
Alders M,
Mannens M,
Henneman P,
Hennekam RC,
Velasco G,
Francastel C,
Ulveling D,
Ciolfi A,
Pizzi S,
Tartaglia M,
Heide S,
Héron D,
Mignot C,
Keren B,
Whalen S,
Afenjar A,
Bienvenu T,
Campeau PM,
Rousseau J,
Levy MA,
Brick L,
Kozenko M,
Balci TB,
Siu VM,
Stuart A,
Kadour M,
Masters J,
Takano K,
Kleefstra T,
de Leeuw N,
Field M,
Shaw M,
Gecz J,
Ainsworth PJ,
Lin H,
Rodenhiser DI,
Friez MJ,
Tedder M,
Lee JA,
DuPont BR,
Stevenson RE,
Skinner SA,
Schwartz CE,
Genevieve D,
Sadikovic B
Am J Hum Genet
2020 Mar 5;106(3):356-370.
Epub 2020 Feb 27
doi: 10.1016/j.ajhg.2020.01.019.
PMID: 32109418Free PMC Article
Elsea SH,
Girirajan S
Eur J Hum Genet
2008 Apr;16(4):412-21.
Epub 2008 Jan 30
doi: 10.1038/sj.ejhg.5202009.
PMID: 18231123
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Therapy
Bruno LP,
Doddato G,
Valentino F,
Baldassarri M,
Tita R,
Fallerini C,
Bruttini M,
Lo Rizzo C,
Mencarelli MA,
Mari F,
Pinto AM,
Fava F,
Fabbiani A,
Lamacchia V,
Carrer A,
Caputo V,
Granata S,
Benetti E,
Zguro K,
Furini S,
Renieri A,
Ariani F
Int J Mol Sci
2021 Dec 14;22(24)
doi: 10.3390/ijms222413439.
PMID: 34948243Free PMC Article
Pereira G,
Dória S
J Genet
2021;100
PMID: 34553695
Samanta D
Pediatr Neurol
2020 Apr;105:3-9.
Epub 2019 Nov 30
doi: 10.1016/j.pediatrneurol.2019.10.009.
PMID: 32057594
Sanchack KE,
Thomas CA
Am Fam Physician
2016 Dec 15;94(12):972-979.
PMID: 28075089
Devinsky O,
Cilio MR,
Cross H,
Fernandez-Ruiz J,
French J,
Hill C,
Katz R,
Di Marzo V,
Jutras-Aswad D,
Notcutt WG,
Martinez-Orgado J,
Robson PJ,
Rohrback BG,
Thiele E,
Whalley B,
Friedman D
Epilepsia
2014 Jun;55(6):791-802.
Epub 2014 May 22
doi: 10.1111/epi.12631.
PMID: 24854329Free PMC Article
Prognosis
Lanvin PL,
Goronflot T,
Isidor B,
Nizon M,
Durand B,
El Chehadeh S,
Geneviève D,
Ruault V,
Fradin M,
Pasquier L,
Thévenon J,
Delobel B,
Burglen L,
Afenjar A,
Faivre L,
Francannet C,
Guerrot AM,
Goldenberg A,
Mercier S,
Héron D,
Lehalle D,
Mignot C,
Marey I,
Charles P,
Moutton S,
Bézieau S,
Bayat A,
Piton A,
Willems M,
Vincent M
Am J Med Genet A
2024 Jan;194(1):9-16.
Epub 2023 Sep 22
doi: 10.1002/ajmg.a.63412.
PMID: 37740550
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
Cogné B,
Ehresmann S,
Beauregard-Lacroix E,
Rousseau J,
Besnard T,
Garcia T,
Petrovski S,
Avni S,
McWalter K,
Blackburn PR,
Sanders SJ,
Uguen K,
Harris J,
Cohen JS,
Blyth M,
Lehman A,
Berg J,
Li MH,
Kini U,
Joss S,
von der Lippe C,
Gordon CT,
Humberson JB,
Robak L,
Scott DA,
Sutton VR,
Skraban CM,
Johnston JJ,
Poduri A,
Nordenskjöld M,
Shashi V,
Gerkes EH,
Bongers EMHF,
Gilissen C,
Zarate YA,
Kvarnung M,
Lally KP,
Kulch PA,
Daniels B,
Hernandez-Garcia A,
Stong N,
McGaughran J,
Retterer K,
Tveten K,
Sullivan J,
Geisheker MR,
Stray-Pedersen A,
Tarpinian JM,
Klee EW,
Sapp JC,
Zyskind J,
Holla ØL,
Bedoukian E,
Filippini F,
Guimier A,
Picard A,
Busk ØL,
Punetha J,
Pfundt R,
Lindstrand A,
Nordgren A,
Kalb F,
Desai M,
Ebanks AH,
Jhangiani SN,
Dewan T,
Coban Akdemir ZH,
Telegrafi A,
Zackai EH,
Begtrup A,
Song X,
Toutain A,
Wentzensen IM,
Odent S,
Bonneau D,
Latypova X,
Deb W;
CAUSES Study,
Redon S,
Bilan F,
Legendre M,
Troyer C,
Whitlock K,
Caluseriu O,
Murphree MI,
Pichurin PN,
Agre K,
Gavrilova R,
Rinne T,
Park M,
Shain C,
Heinzen EL,
Xiao R,
Amiel J,
Lyonnet S,
Isidor B,
Biesecker LG,
Lowenstein D,
Posey JE,
Denommé-Pichon AS;
Deciphering Developmental Disorders study,
Férec C,
Yang XJ,
Rosenfeld JA,
Gilbert-Dussardier B,
Audebert-Bellanger S,
Redon R,
Stessman HAF,
Nellaker C,
Yang Y,
Lupski JR,
Goldstein DB,
Eichler EE,
Bolduc F,
Bézieau S,
Küry S,
Campeau PM
Am J Hum Genet
2019 Mar 7;104(3):530-541.
Epub 2019 Feb 28
doi: 10.1016/j.ajhg.2019.01.010.
PMID: 30827496Free PMC Article
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Clinical prediction guides
Dingemans AJM,
Truijen KMG,
Kim JH,
Alaçam Z,
Faivre L,
Collins KM,
Gerkes EH,
van Haelst M,
van de Laar IMBH,
Lindstrom K,
Nizon M,
Pauling J,
Heropolitańska-Pliszka E,
Plomp AS,
Racine C,
Sachdev R,
Sinnema M,
Skranes J,
Veenstra-Knol HE,
Verberne EA,
Vulto-van Silfhout AT,
Wilsterman MEF,
Ahn EE,
de Vries BBA,
Vissers LELM
Eur J Hum Genet
2022 Mar;30(3):271-281.
Epub 2021 Sep 15
doi: 10.1038/s41431-021-00960-4.
PMID: 34521999Free PMC Article
Sanchez-Jimeno C,
Blanco-Kelly F,
López-Grondona F,
Losada-Del Pozo R,
Moreno B,
Rodrigo-Moreno M,
Martinez-Cayuelas E,
Riveiro-Alvarez R,
Fenollar-Cortés M,
Ayuso C,
Rodríguez de Alba M,
Lorda-Sanchez I,
Almoguera B
Genes (Basel)
2021 Aug 30;12(9)
doi: 10.3390/genes12091360.
PMID: 34573342Free 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
Cogné B,
Ehresmann S,
Beauregard-Lacroix E,
Rousseau J,
Besnard T,
Garcia T,
Petrovski S,
Avni S,
McWalter K,
Blackburn PR,
Sanders SJ,
Uguen K,
Harris J,
Cohen JS,
Blyth M,
Lehman A,
Berg J,
Li MH,
Kini U,
Joss S,
von der Lippe C,
Gordon CT,
Humberson JB,
Robak L,
Scott DA,
Sutton VR,
Skraban CM,
Johnston JJ,
Poduri A,
Nordenskjöld M,
Shashi V,
Gerkes EH,
Bongers EMHF,
Gilissen C,
Zarate YA,
Kvarnung M,
Lally KP,
Kulch PA,
Daniels B,
Hernandez-Garcia A,
Stong N,
McGaughran J,
Retterer K,
Tveten K,
Sullivan J,
Geisheker MR,
Stray-Pedersen A,
Tarpinian JM,
Klee EW,
Sapp JC,
Zyskind J,
Holla ØL,
Bedoukian E,
Filippini F,
Guimier A,
Picard A,
Busk ØL,
Punetha J,
Pfundt R,
Lindstrand A,
Nordgren A,
Kalb F,
Desai M,
Ebanks AH,
Jhangiani SN,
Dewan T,
Coban Akdemir ZH,
Telegrafi A,
Zackai EH,
Begtrup A,
Song X,
Toutain A,
Wentzensen IM,
Odent S,
Bonneau D,
Latypova X,
Deb W;
CAUSES Study,
Redon S,
Bilan F,
Legendre M,
Troyer C,
Whitlock K,
Caluseriu O,
Murphree MI,
Pichurin PN,
Agre K,
Gavrilova R,
Rinne T,
Park M,
Shain C,
Heinzen EL,
Xiao R,
Amiel J,
Lyonnet S,
Isidor B,
Biesecker LG,
Lowenstein D,
Posey JE,
Denommé-Pichon AS;
Deciphering Developmental Disorders study,
Férec C,
Yang XJ,
Rosenfeld JA,
Gilbert-Dussardier B,
Audebert-Bellanger S,
Redon R,
Stessman HAF,
Nellaker C,
Yang Y,
Lupski JR,
Goldstein DB,
Eichler EE,
Bolduc F,
Bézieau S,
Küry S,
Campeau PM
Am J Hum Genet
2019 Mar 7;104(3):530-541.
Epub 2019 Feb 28
doi: 10.1016/j.ajhg.2019.01.010.
PMID: 30827496Free PMC Article
Moortgat S,
Berland S,
Aukrust I,
Maystadt I,
Baker L,
Benoit V,
Caro-Llopis A,
Cooper NS,
Debray FG,
Faivre L,
Gardeitchik T,
Haukanes BI,
Houge G,
Kivuva E,
Martinez F,
Mehta SG,
Nassogne MC,
Powell-Hamilton N,
Pfundt R,
Rosello M,
Prescott T,
Vasudevan P,
van Loon B,
Verellen-Dumoulin C,
Verloes A,
Lippe CV,
Wakeling E,
Wilkie AOM,
Wilson L,
Yuen A,
Study D,
Low KJ,
Newbury-Ecob RA
Eur J Hum Genet
2018 Jan;26(1):64-74.
Epub 2017 Nov 27
doi: 10.1038/s41431-017-0038-6.
PMID: 29180823Free PMC Article