Etiology
Shepherdson JL,
Hutchison K,
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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,
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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,
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Am J Hum Genet
2024 Mar 7;111(3):487-508.
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Hill C,
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Vijay S,
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Am J Med Genet A
2023 Mar;191(3):859-863.
Epub 2022 Dec 20
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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
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Taşkıran EZ,
Karaosmanoğlu B,
Koşukcu C,
Ürel-Demir G,
Akgün-Doğan Ö,
Şimşek-Kiper PÖ,
Alikaşifoğlu M,
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Utine GE
J Intellect Disabil Res
2021 Jun;65(6):577-588.
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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.
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Diagnosis
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.
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Endrakanti M,
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J Pediatr
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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,
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Hum Mutat
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Hamilton MJ,
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Adv Genet
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Begtrup A,
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Gérard B,
Jacquette A,
Kuentz P,
Masurel-Paulet A,
McDougall C,
Moutton S,
Olivié H,
Park SM,
Rauch A,
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J Med Genet
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Therapy
Zhi X,
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Clin Chim Acta
2022 Jul 1;532:137-144.
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PMID: 35690084
Edwards G,
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Neurosci Biobehav Rev
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PMID: 35661754
Wu Y,
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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
Furia F,
Levy AM,
Theunis M,
Bamshad MJ,
Bartos MN,
Bijlsma EK,
Brancati F,
Cejudo L,
Chong JX,
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Egense A,
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Clin Genet
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Farajollahi Z,
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J Gene Med
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Yates TM,
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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.
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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
Clinical prediction guides
Deb W,
Rosenfelt C,
Vignard V,
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Möller S,
Wendlandt M,
Studencka-Turski M,
Cogné B,
Besnard T,
Ruffier L,
Toutain B,
Poirier L,
Cuinat S,
Kritzer A,
Crunk A,
diMonda J,
Vengoechea J,
Mercier S,
Kleinendorst L,
van Haelst MM,
Zuurbier L,
Sulem T,
Katrínardóttir H,
Friðriksdóttir R,
Sulem P,
Stefansson K,
Jonsdottir B,
Zeidler S,
Sinnema M,
Stegmann APA,
Naveh N,
Skraban CM,
Gray C,
Murrell JR,
Isikay S,
Pehlivan D,
Calame DG,
Posey JE,
Nizon M,
McWalter K,
Lupski JR,
Isidor B,
Bolduc FV,
Bézieau S,
Krüger E,
Küry S,
Ebstein F
Am J Hum Genet
2024 Jul 11;111(7):1352-1369.
Epub 2024 Jun 11
doi: 10.1016/j.ajhg.2024.05.016.
PMID: 38866022Free 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