Etiology
Edwards G,
Jones C,
Pearson E,
Royston R,
Oliver C,
Tarver J,
Crawford H,
Shelley L,
Waite J
Neurosci Biobehav Rev
2022 Jul;138:104719.
Epub 2022 Jun 2
doi: 10.1016/j.neubiorev.2022.104719.
PMID: 35661754
Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F
Am J Med Genet A
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
PMID: 33783954Free PMC Article
Taşkıran EZ,
Karaosmanoğlu B,
Koşukcu C,
Ürel-Demir G,
Akgün-Doğan Ö,
Şimşek-Kiper PÖ,
Alikaşifoğlu M,
Boduroğlu K,
Utine GE
J Intellect Disabil Res
2021 Jun;65(6):577-588.
Epub 2021 Mar 19
doi: 10.1111/jir.12835.
PMID: 33739554
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
Wu Y,
Zhang H,
Liu X,
Shi Z,
Li H,
Wang Z,
Jie X,
Huang S,
Zhang F,
Li J,
Zhang K,
Gao X
Genes Genomics
2019 Jan;41(1):125-131.
Epub 2018 Sep 25
doi: 10.1007/s13258-018-0745-6.
PMID: 30255221
Diagnosis
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
Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F
Am J Med Genet A
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
PMID: 33783954Free PMC Article
Taşkıran EZ,
Karaosmanoğlu B,
Koşukcu C,
Ürel-Demir G,
Akgün-Doğan Ö,
Şimşek-Kiper PÖ,
Alikaşifoğlu M,
Boduroğlu K,
Utine GE
J Intellect Disabil Res
2021 Jun;65(6):577-588.
Epub 2021 Mar 19
doi: 10.1111/jir.12835.
PMID: 33739554
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
Hamilton MJ,
Suri M
Adv Genet
2019;103:163-182.
Epub 2018 Dec 11
doi: 10.1016/bs.adgen.2018.11.001.
PMID: 30904094
Therapy
Zhi X,
Pu L,
Wu B,
Cui Y,
Yu C,
Dong Y,
Li D,
Cai C
Clin Chim Acta
2022 Jul 1;532:137-144.
Epub 2022 Jun 8
doi: 10.1016/j.cca.2022.05.023.
PMID: 35690084
Edwards G,
Jones C,
Pearson E,
Royston R,
Oliver C,
Tarver J,
Crawford H,
Shelley L,
Waite J
Neurosci Biobehav Rev
2022 Jul;138:104719.
Epub 2022 Jun 2
doi: 10.1016/j.neubiorev.2022.104719.
PMID: 35661754
Wu Y,
Zhang H,
Liu X,
Shi Z,
Li H,
Wang Z,
Jie X,
Huang S,
Zhang F,
Li J,
Zhang K,
Gao X
Genes Genomics
2019 Jan;41(1):125-131.
Epub 2018 Sep 25
doi: 10.1007/s13258-018-0745-6.
PMID: 30255221
Meziane H,
Khelfaoui M,
Morello N,
Hiba B,
Calcagno E,
Reibel-Foisset S,
Selloum M,
Chelly J,
Humeau Y,
Riet F,
Zanni G,
Herault Y,
Bienvenu T,
Giustetto M,
Billuart P
Hum Mol Genet
2016 Jun 1;25(11):2314-2323.
Epub 2016 May 4
doi: 10.1093/hmg/ddw102.
PMID: 27146843
Classen CF,
Riehmer V,
Landwehr C,
Kosfeld A,
Heilmann S,
Scholz C,
Kabisch S,
Engels H,
Tierling S,
Zivicnjak M,
Schacherer F,
Haffner D,
Weber RG
Hum Genet
2013 Jul;132(7):825-41.
Epub 2013 Apr 4
doi: 10.1007/s00439-013-1296-1.
PMID: 23552953
Prognosis
Latypova X,
Vincent M,
Mollé A,
Adebambo OA,
Fourgeux C,
Khan TN,
Caro A,
Rosello M,
Orellana C,
Niyazov D,
Lederer D,
Deprez M,
Capri Y,
Kannu P,
Tabet AC,
Levy J,
Aten E,
den Hollander N,
Splitt M,
Walia J,
Immken LL,
Stankiewicz P,
McWalter K,
Suchy S,
Louie RJ,
Bell S,
Stevenson RE,
Rousseau J,
Willem C,
Retiere C,
Yang XJ,
Campeau PM,
Martinez F,
Rosenfeld JA,
Le Caignec C,
Küry S,
Mercier S,
Moradkhani K,
Conrad S,
Besnard T,
Cogné B,
Katsanis N,
Bézieau S,
Poschmann J,
Davis EE,
Isidor B
Am J Hum Genet
2021 May 6;108(5):929-941.
Epub 2021 Apr 2
doi: 10.1016/j.ajhg.2021.03.017.
PMID: 33811806Free 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
Hamilton MJ,
Suri M
Adv Genet
2019;103:163-182.
Epub 2018 Dec 11
doi: 10.1016/bs.adgen.2018.11.001.
PMID: 30904094
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
Wu Y,
Zhang H,
Liu X,
Shi Z,
Li H,
Wang Z,
Jie X,
Huang S,
Zhang F,
Li J,
Zhang K,
Gao X
Genes Genomics
2019 Jan;41(1):125-131.
Epub 2018 Sep 25
doi: 10.1007/s13258-018-0745-6.
PMID: 30255221
Clinical prediction guides
Latypova X,
Vincent M,
Mollé A,
Adebambo OA,
Fourgeux C,
Khan TN,
Caro A,
Rosello M,
Orellana C,
Niyazov D,
Lederer D,
Deprez M,
Capri Y,
Kannu P,
Tabet AC,
Levy J,
Aten E,
den Hollander N,
Splitt M,
Walia J,
Immken LL,
Stankiewicz P,
McWalter K,
Suchy S,
Louie RJ,
Bell S,
Stevenson RE,
Rousseau J,
Willem C,
Retiere C,
Yang XJ,
Campeau PM,
Martinez F,
Rosenfeld JA,
Le Caignec C,
Küry S,
Mercier S,
Moradkhani K,
Conrad S,
Besnard T,
Cogné B,
Katsanis N,
Bézieau S,
Poschmann J,
Davis EE,
Isidor B
Am J Hum Genet
2021 May 6;108(5):929-941.
Epub 2021 Apr 2
doi: 10.1016/j.ajhg.2021.03.017.
PMID: 33811806Free PMC Article
Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F
Am J Med Genet A
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
PMID: 33783954Free 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
Hamilton MJ,
Suri M
Adv Genet
2019;103:163-182.
Epub 2018 Dec 11
doi: 10.1016/bs.adgen.2018.11.001.
PMID: 30904094
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