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Küry S,
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Lockhart P,
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Østergaard E,
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Shaw M,
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Neurosci Biobehav Rev
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Li D,
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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,
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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,
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Quintero-Rivera F
Am J Med Genet A
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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
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Wu Y,
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Li H,
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Jie X,
Huang S,
Zhang F,
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Zhang K,
Gao X
Genes Genomics
2019 Jan;41(1):125-131.
Epub 2018 Sep 25
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PMID: 30255221
Diagnosis
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Am J Med Genet A
2023 Feb;191(2):570-574.
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Sheppard SE,
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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,
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Quintero-Rivera F
Am J Med Genet A
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Yates TM,
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Barnicoat A,
Low K,
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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,
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Callewaert B,
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Hum Mutat
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Adv Genet
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J Med Genet
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Therapy
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Clin Chim Acta
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Edwards G,
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Neurosci Biobehav Rev
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Wu Y,
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Shi Z,
Li H,
Wang Z,
Jie X,
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Genes Genomics
2019 Jan;41(1):125-131.
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PMID: 30255221
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Hum Mol Genet
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Hum Genet
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Prognosis
Latypova X,
Vincent M,
Mollé A,
Adebambo OA,
Fourgeux C,
Khan TN,
Caro A,
Rosello M,
Orellana C,
Niyazov D,
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Kannu P,
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Bell S,
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Yang XJ,
Campeau PM,
Martinez F,
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Le Caignec C,
Küry S,
Mercier S,
Moradkhani K,
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Besnard T,
Cogné B,
Katsanis N,
Bézieau S,
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Am J Hum Genet
2021 May 6;108(5):929-941.
Epub 2021 Apr 2
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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
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PMID: 32097528
Hamilton MJ,
Suri M
Adv Genet
2019;103:163-182.
Epub 2018 Dec 11
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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