Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eken A, Gupta N, Haas K, Hakonarson H, Haryanyan G, Häusler M, Hegde M, Heinzen EL, Helbig I, Hengsbach C, Heyne H, Hirose S, Hirsch E, Ho CJ, Hoeper O, Howrigan DP, Hucks D, Hung PC, Iacomino M, Inoue Y, Inuzuka LM, Ishii A, Jehi L, Johnson MR, Johnstone M, Kälviäinen R, Kanaan M, Kara B, Kariuki SM, Kegele J, Kesim Y, Khoueiry-Zgheib N, Khoury J, King C, Klein KM, Kluger G, Knake S, Kok F, Korczyn AD, Korinthenberg R, Koupparis A, Kousiappa I, Krause R, Krenn M, Krestel H, Krey I, Kunz WS, Kurlemann G, Kuzniecky RI, Kwan P, La Vega-Talbott M, Labate A, Lacey A, Lal D, Laššuthová P, Lauxmann S, Lawthom C, Leech SL, Lehesjoki AE, Lemke JR, Lerche H, Lesca G, Leu C, Lewin N, Lewis-Smith D, Li GH, Liao C, Licchetta L, Lin CH, Lin KL, Linnankivi T, Lo W, Lowenstein DH, Lowther C, Lubbers L, Lui CHT, Macedo-Souza LI, Madeleyn R, Madia F, Magri S, Maillard L, Marcuse L, Marques P, Marson AG, Matthews AG, May P, Mayer T, McArdle W, McCarroll SM, McGoldrick P, McGraw CM, McIntosh A, McQuillan A, Meador KJ, Mei D, Michel V, Millichap JJ, Minardi R, Montomoli M, Mostacci B, Muccioli L, Muhle H, Müller-Schlüter K, Najm IM, Nasreddine W, Neaves S, Neubauer BA, Newton CRJC, Noebels JL, Northstone K, Novod S, O'Brien TJ, Owusu-Agyei S, Özkara Ç, Palotie A, Papacostas SS, Parrini E, Pato C, Pato M, Pendziwiat M, Pennell PB, Petrovski S, Pickrell WO, Pinsky R, Pinto D, Pippucci T, Piras F, Piras F, Poduri A, Pondrelli F, Posthuma D, Powell RHW, Privitera M, Rademacher A, Ragona F, Ramirez-Hamouz B, Rau S, Raynes HR, Rees MI, Regan BM, Reif A, Reinthaler E, Rheims S, Ring SM, Riva A, Rojas E, Rosenow F, Ryvlin P, Saarela A, Sadleir LG, Salman B, Salmon A, Salpietro V, Sammarra I, Scala M, Schachter S, Schaller A, Schankin CJ, Scheffer IE, Schneider N, Schubert-Bast S, Schulze-Bonhage A, Scudieri P, Sedláčková L, Shain C, Sham PC, Shiedley BR, Siena SA, Sills GJ, Sisodiya SM, Smoller JW, Solomonson M, Spalletta G, Sparks KR, Sperling MR, Stamberger H, Steinhoff BJ, Stephani U, Štěrbová K, Stewart WC, Stipa C, Striano P, Strzelczyk A, Surges R, Suzuki T, Talarico M, Talkowski ME, Taneja RS, Tanteles GA, Timonen O, Timpson NJ, Tinuper P, Todaro M, Topaloglu P, Tsai MH, Tumiene B, Turkdogan D, Uğur-İşeri S, Utkus A, Vaidiswaran P, Valton L, van Baalen A, Vari MS, Vetro A, Vlčková M, von Brauchitsch S, von Spiczak S, Wagner RG, Watts N, Weber YG, Weckhuysen S, Widdess-Walsh P, Wiebe S, Wolf SM, Wolff M, Wolking S, Wong I, von Wrede R, Wu D, Yamakawa K, Yapıcı Z, Yis U, Yolken R, Yücesan E, Zagaglia S, Zahnert F, Zara F, Zimprich F, Zizovic M, Zsurka G, Neale BM, Berkovic SF

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DOI
10.1101/2023.02.22.23286310
Published
2024 Sep 20
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medRxiv : the preprint server for health sciences
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yes

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@article{allodium:10.1101/2023.02.22.23286310,
  title = {Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.},
  author = {Chen S and Abou-Khalil BW and Afawi Z and Ali QZ and Amadori E and Anderson A and Anderson J and Andrade DM and Annesi G and Arslan M and Auce P and Bahlo M and Baker MD and Balagura G and Balestrini S and Banks E and Barba C and Barboza K and Bartolomei F and Bass N and Baum LW and Baumgartner TH and Baykan B and Bebek N and Becker F and Bennett CA and Beydoun A and Bianchini C and Bisulli F and Blackwood D and Blatt I and Borggräfe I and Bosselmann C and Braatz V and Brand H and Brockmann K and Buono RJ and Busch RM and Caglayan SH and Canafoglia L and Canavati C and Castellotti B and Cavalleri GL and Cerrato F and Chassoux F and Cherian C and Cherny SS and Cheung CL and Chou IJ and Chung SK and Churchhouse C and Ciullo V and Clark PO and Cole AJ and Cosico M and Cossette P and Cotsapas C and Cusick C and Daly MJ and Davis LK and Jonghe P and Delanty N and Dennig D and Depondt C and Derambure P and Devinsky O and Di Vito L and Dickerson F and Dlugos DJ and Doccini V and Doherty CP and El-Naggar H and Ellis CA and Epstein L and Evans M and Faucon A and Feng YA and Ferguson L and Ferraro TN and Da Silva IF and Ferri L and Feucht M and Fields MC and Fitzgerald M and Fonferko-Shadrach B and Fortunato F and Franceschetti S and French JA and Freri E and Fu JM and Gabriel S and Gagliardi M and Gambardella A and Gauthier L and Giangregorio T and Gili T and Glauser TA and Goldberg E and Goldman A and Goldstein DB and Granata T and Grant R and Greenberg DA and Guerrini R and Gundogdu-Eken A and Gupta N and Haas K and Hakonarson H and Haryanyan G and Häusler M and Hegde M and Heinzen EL and Helbig I and Hengsbach C and Heyne H and Hirose S and Hirsch E and Ho CJ and Hoeper O and Howrigan DP and Hucks D and Hung PC and Iacomino M and Inoue Y and Inuzuka LM and Ishii A and Jehi L and Johnson MR and Johnstone M and Kälviäinen R and Kanaan M and Kara B and Kariuki SM and Kegele J and Kesim Y and Khoueiry-Zgheib N and Khoury J and King C and Klein KM and Kluger G and Knake S and Kok F and Korczyn AD and Korinthenberg R and Koupparis A and Kousiappa I and Krause R and Krenn M and Krestel H and Krey I and Kunz WS and Kurlemann G and Kuzniecky RI and Kwan P and La Vega-Talbott M and Labate A and Lacey A and Lal D and Laššuthová P and Lauxmann S and Lawthom C and Leech SL and Lehesjoki AE and Lemke JR and Lerche H and Lesca G and Leu C and Lewin N and Lewis-Smith D and Li GH and Liao C and Licchetta L and Lin CH and Lin KL and Linnankivi T and Lo W and Lowenstein DH and Lowther C and Lubbers L and Lui CHT and Macedo-Souza LI and Madeleyn R and Madia F and Magri S and Maillard L and Marcuse L and Marques P and Marson AG and Matthews AG and May P and Mayer T and McArdle W and McCarroll SM and McGoldrick P and McGraw CM and McIntosh A and McQuillan A and Meador KJ and Mei D and Michel V and Millichap JJ and Minardi R and Montomoli M and Mostacci B and Muccioli L and Muhle H and Müller-Schlüter K and Najm IM and Nasreddine W and Neaves S and Neubauer BA and Newton CRJC and Noebels JL and Northstone K and Novod S and O'Brien TJ and Owusu-Agyei S and Özkara Ç and Palotie A and Papacostas SS and Parrini E and Pato C and Pato M and Pendziwiat M and Pennell PB and Petrovski S and Pickrell WO and Pinsky R and Pinto D and Pippucci T and Piras F and Piras F and Poduri A and Pondrelli F and Posthuma D and Powell RHW and Privitera M and Rademacher A and Ragona F and Ramirez-Hamouz B and Rau S and Raynes HR and Rees MI and Regan BM and Reif A and Reinthaler E and Rheims S and Ring SM and Riva A and Rojas E and Rosenow F and Ryvlin P and Saarela A and Sadleir LG and Salman B and Salmon A and Salpietro V and Sammarra I and Scala M and Schachter S and Schaller A and Schankin CJ and Scheffer IE and Schneider N and Schubert-Bast S and Schulze-Bonhage A and Scudieri P and Sedláčková L and Shain C and Sham PC and Shiedley BR and Siena SA and Sills GJ and Sisodiya SM and Smoller JW and Solomonson M and Spalletta G and Sparks KR and Sperling MR and Stamberger H and Steinhoff BJ and Stephani U and Štěrbová K and Stewart WC and Stipa C and Striano P and Strzelczyk A and Surges R and Suzuki T and Talarico M and Talkowski ME and Taneja RS and Tanteles GA and Timonen O and Timpson NJ and Tinuper P and Todaro M and Topaloglu P and Tsai MH and Tumiene B and Turkdogan D and Uğur-İşeri S and Utkus A and Vaidiswaran P and Valton L and van Baalen A and Vari MS and Vetro A and Vlčková M and von Brauchitsch S and von Spiczak S and Wagner RG and Watts N and Weber YG and Weckhuysen S and Widdess-Walsh P and Wiebe S and Wolf SM and Wolff M and Wolking S and Wong I and von Wrede R and Wu D and Yamakawa K and Yapıcı Z and Yis U and Yolken R and Yücesan E and Zagaglia S and Zahnert F and Zara F and Zimprich F and Zizovic M and Zsurka G and Neale BM and Berkovic SF},
  year = {2024},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.1101/2023.02.22.23286310},
  url = {https://doi.org/10.1101/2023.02.22.23286310}
}

RIS

TY  - JOUR
TI  - Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
AU  - Chen S
AU  - Abou-Khalil BW
AU  - Afawi Z
AU  - Ali QZ
AU  - Amadori E
AU  - Anderson A
AU  - Anderson J
AU  - Andrade DM
AU  - Annesi G
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AU  - Chou IJ
AU  - Chung SK
AU  - Churchhouse C
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AU  - Gabriel S
AU  - Gagliardi M
AU  - Gambardella A
AU  - Gauthier L
AU  - Giangregorio T
AU  - Gili T
AU  - Glauser TA
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AU  - Mostacci B
AU  - Muccioli L
AU  - Muhle H
AU  - Müller-Schlüter K
AU  - Najm IM
AU  - Nasreddine W
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AU  - Pinsky R
AU  - Pinto D
AU  - Pippucci T
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AU  - Piras F
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AU  - Pondrelli F
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AU  - Powell RHW
AU  - Privitera M
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AU  - Sedláčková L
AU  - Shain C
AU  - Sham PC
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AU  - Sills GJ
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AU  - Štěrbová K
AU  - Stewart WC
AU  - Stipa C
AU  - Striano P
AU  - Strzelczyk A
AU  - Surges R
AU  - Suzuki T
AU  - Talarico M
AU  - Talkowski ME
AU  - Taneja RS
AU  - Tanteles GA
AU  - Timonen O
AU  - Timpson NJ
AU  - Tinuper P
AU  - Todaro M
AU  - Topaloglu P
AU  - Tsai MH
AU  - Tumiene B
AU  - Turkdogan D
AU  - Uğur-İşeri S
AU  - Utkus A
AU  - Vaidiswaran P
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AU  - van Baalen A
AU  - Vari MS
AU  - Vetro A
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AU  - von Spiczak S
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AU  - Watts N
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AU  - Weckhuysen S
AU  - Widdess-Walsh P
AU  - Wiebe S
AU  - Wolf SM
AU  - Wolff M
AU  - Wolking S
AU  - Wong I
AU  - von Wrede R
AU  - Wu D
AU  - Yamakawa K
AU  - Yapıcı Z
AU  - Yis U
AU  - Yolken R
AU  - Yücesan E
AU  - Zagaglia S
AU  - Zahnert F
AU  - Zara F
AU  - Zimprich F
AU  - Zizovic M
AU  - Zsurka G
AU  - Neale BM
AU  - Berkovic SF
PY  - 2024
JO  - medRxiv : the preprint server for health sciences
DO  - 10.1101/2023.02.22.23286310
UR  - https://doi.org/10.1101/2023.02.22.23286310
ER  -

APA

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