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Lupski JR

References (15)

Title : Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy - Wong_2021_Am.J.Hum.Genet_108_1301
Author(s) : Wong HH , Seet SH , Maier M , Gurel A , Traspas RM , Lee C , Zhang S , Talim B , Loh AYT , Chia CY , Teoh TS , Sng D , Rensvold J , Unal S , Shishkova E , Cepni E , Nathan FM , Sirota FL , Liang C , Yarali N , Simsek-Kiper PO , Mitani T , Ceylaner S , Arman-Bilir O , Mbarek H , Gumruk F , Efthymiou S , Ugurlu Ci Men D , Georgiadou D , Sotiropoulou K , Houlden H , Paul F , Pehlivan D , Laine C , Chai G , Ali NA , Choo SC , Keng SS , Boisson B , Yilmaz E , Xue S , Coon JJ , Ly TTN , Gilani N , Hasbini D , Kayserili H , Zaki MS , Isfort RJ , Ordonez N , Tripolszki K , Bauer P , Rezaei N , Seyedpour S , Khotaei GT , Bascom CC , Maroofian R , Chaabouni M , Alsubhi A , Eyaid W , Isikay S , Gleeson JG , Lupski JR , Casanova JL , Pagliarini DJ , Akarsu NA , Maurer-Stroh S , Cetinkaya A , Bertoli-Avella A , Mathuru AS , Ho L , Bard FA , Reversade B
Ref : American Journal of Human Genetics , 108 :1301 , 2021
Abstract :
PubMedSearch : Wong_2021_Am.J.Hum.Genet_108_1301
PubMedID: 34038740
Gene_locus related to this paper: human-cb069

Title : Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy - Wong_2021_Am.J.Hum.Genet_108_1301
Author(s) : Wong HH , Seet SH , Maier M , Gurel A , Traspas RM , Lee C , Zhang S , Talim B , Loh AYT , Chia CY , Teoh TS , Sng D , Rensvold J , Unal S , Shishkova E , Cepni E , Nathan FM , Sirota FL , Liang C , Yarali N , Simsek-Kiper PO , Mitani T , Ceylaner S , Arman-Bilir O , Mbarek H , Gumruk F , Efthymiou S , Ugurlu Ci Men D , Georgiadou D , Sotiropoulou K , Houlden H , Paul F , Pehlivan D , Laine C , Chai G , Ali NA , Choo SC , Keng SS , Boisson B , Yilmaz E , Xue S , Coon JJ , Ly TTN , Gilani N , Hasbini D , Kayserili H , Zaki MS , Isfort RJ , Ordonez N , Tripolszki K , Bauer P , Rezaei N , Seyedpour S , Khotaei GT , Bascom CC , Maroofian R , Chaabouni M , Alsubhi A , Eyaid W , Isikay S , Gleeson JG , Lupski JR , Casanova JL , Pagliarini DJ , Akarsu NA , Maurer-Stroh S , Cetinkaya A , Bertoli-Avella A , Mathuru AS , Ho L , Bard FA , Reversade B
Ref : American Journal of Human Genetics , 108 :1301 , 2021
Abstract :
PubMedSearch : Wong_2021_Am.J.Hum.Genet_108_1301
PubMedID: 34038740
Gene_locus related to this paper: human-cb069

Title : Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy - Wong_2021_Am.J.Hum.Genet_108_1301
Author(s) : Wong HH , Seet SH , Maier M , Gurel A , Traspas RM , Lee C , Zhang S , Talim B , Loh AYT , Chia CY , Teoh TS , Sng D , Rensvold J , Unal S , Shishkova E , Cepni E , Nathan FM , Sirota FL , Liang C , Yarali N , Simsek-Kiper PO , Mitani T , Ceylaner S , Arman-Bilir O , Mbarek H , Gumruk F , Efthymiou S , Ugurlu Ci Men D , Georgiadou D , Sotiropoulou K , Houlden H , Paul F , Pehlivan D , Laine C , Chai G , Ali NA , Choo SC , Keng SS , Boisson B , Yilmaz E , Xue S , Coon JJ , Ly TTN , Gilani N , Hasbini D , Kayserili H , Zaki MS , Isfort RJ , Ordonez N , Tripolszki K , Bauer P , Rezaei N , Seyedpour S , Khotaei GT , Bascom CC , Maroofian R , Chaabouni M , Alsubhi A , Eyaid W , Isikay S , Gleeson JG , Lupski JR , Casanova JL , Pagliarini DJ , Akarsu NA , Maurer-Stroh S , Cetinkaya A , Bertoli-Avella A , Mathuru AS , Ho L , Bard FA , Reversade B
Ref : American Journal of Human Genetics , 108 :1301 , 2021
Abstract :
PubMedSearch : Wong_2021_Am.J.Hum.Genet_108_1301
PubMedID: 34038740
Gene_locus related to this paper: human-cb069

Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689
Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB
Ref : Eur J Hum Genet , 23 :1689 , 2015
Abstract :
PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689
PubMedID: 25804403

Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689
Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB
Ref : Eur J Hum Genet , 23 :1689 , 2015
Abstract :
PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689
PubMedID: 25804403

Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689
Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB
Ref : Eur J Hum Genet , 23 :1689 , 2015
Abstract :
PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689
PubMedID: 25804403

Title : Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom\/CMT4D - Okamoto_2014_Genet.Med_16_386
Author(s) : Okamoto Y , Goksungur MT , Pehlivan D , Beck CR , Gonzaga-Jauregui C , Muzny DM , Atik MM , Carvalho CM , Matur Z , Bayraktar S , Boone PM , Akyuz K , Gibbs RA , Battaloglu E , Parman Y , Lupski JR
Ref : Genet Med , 16 :386 , 2014
Abstract :
PubMedSearch : Okamoto_2014_Genet.Med_16_386
PubMedID: 24136616
Gene_locus related to this paper: human-NDRG1

Title : Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom\/CMT4D - Okamoto_2014_Genet.Med_16_386
Author(s) : Okamoto Y , Goksungur MT , Pehlivan D , Beck CR , Gonzaga-Jauregui C , Muzny DM , Atik MM , Carvalho CM , Matur Z , Bayraktar S , Boone PM , Akyuz K , Gibbs RA , Battaloglu E , Parman Y , Lupski JR
Ref : Genet Med , 16 :386 , 2014
Abstract :
PubMedSearch : Okamoto_2014_Genet.Med_16_386
PubMedID: 24136616
Gene_locus related to this paper: human-NDRG1

Title : CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree - Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071
Author(s) : Soler-Alfonso C , Carvalho CM , Ge J , Roney EK , Bader PI , Kolodziejska KE , Miller RM , Lupski JR , Stankiewicz P , Cheung SW , Bi W , Schaaf CP
Ref : Eur J Hum Genet , 22 :1071 , 2014
Abstract :
PubMedSearch : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071
PubMedID: 24424125

Title : Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom\/CMT4D - Okamoto_2014_Genet.Med_16_386
Author(s) : Okamoto Y , Goksungur MT , Pehlivan D , Beck CR , Gonzaga-Jauregui C , Muzny DM , Atik MM , Carvalho CM , Matur Z , Bayraktar S , Boone PM , Akyuz K , Gibbs RA , Battaloglu E , Parman Y , Lupski JR
Ref : Genet Med , 16 :386 , 2014
Abstract :
PubMedSearch : Okamoto_2014_Genet.Med_16_386
PubMedID: 24136616
Gene_locus related to this paper: human-NDRG1

Title : CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree - Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071
Author(s) : Soler-Alfonso C , Carvalho CM , Ge J , Roney EK , Bader PI , Kolodziejska KE , Miller RM , Lupski JR , Stankiewicz P , Cheung SW , Bi W , Schaaf CP
Ref : Eur J Hum Genet , 22 :1071 , 2014
Abstract :
PubMedSearch : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071
PubMedID: 24424125

Title : CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree - Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071
Author(s) : Soler-Alfonso C , Carvalho CM , Ge J , Roney EK , Bader PI , Kolodziejska KE , Miller RM , Lupski JR , Stankiewicz P , Cheung SW , Bi W , Schaaf CP
Ref : Eur J Hum Genet , 22 :1071 , 2014
Abstract :
PubMedSearch : Soler-Alfonso_2014_Eur.J.Hum.Genet_22_1071
PubMedID: 24424125

Title : DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage - Zody_2006_Nature_440_1045
Author(s) : Zody MC , Garber M , Adams DJ , Sharpe T , Harrow J , Lupski JR , Nicholson C , Searle SM , Wilming L , Young SK , Abouelleil A , Allen NR , Bi W , Bloom T , Borowsky ML , Bugalter BE , Butler J , Chang JL , Chen CK , Cook A , Corum B , Cuomo CA , de Jong PJ , Decaprio D , Dewar K , FitzGerald M , Gilbert J , Gibson R , Gnerre S , Goldstein S , Grafham DV , Grocock R , Hafez N , Hagopian DS , Hart E , Norman CH , Humphray S , Jaffe DB , Jones M , Kamal M , Khodiyar VK , LaButti K , Laird G , Lehoczky J , Liu X , Lokyitsang T , Loveland J , Lui A , Macdonald P , Major JE , Matthews L , Mauceli E , McCarroll SA , Mihalev AH , Mudge J , Nguyen C , Nicol R , O'Leary SB , Osoegawa K , Schwartz DC , Shaw-Smith C , Stankiewicz P , Steward C , Swarbreck D , Venkataraman V , Whittaker CA , Yang X , Zimmer AR , Bradley A , Hubbard T , Birren BW , Rogers J , Lander ES , Nusbaum C
Ref : Nature , 440 :1045 , 2006
Abstract :
PubMedSearch : Zody_2006_Nature_440_1045
PubMedID: 16625196
Gene_locus related to this paper: human-NLGN2 , human-NOTUM

Title : DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage - Zody_2006_Nature_440_1045
Author(s) : Zody MC , Garber M , Adams DJ , Sharpe T , Harrow J , Lupski JR , Nicholson C , Searle SM , Wilming L , Young SK , Abouelleil A , Allen NR , Bi W , Bloom T , Borowsky ML , Bugalter BE , Butler J , Chang JL , Chen CK , Cook A , Corum B , Cuomo CA , de Jong PJ , Decaprio D , Dewar K , FitzGerald M , Gilbert J , Gibson R , Gnerre S , Goldstein S , Grafham DV , Grocock R , Hafez N , Hagopian DS , Hart E , Norman CH , Humphray S , Jaffe DB , Jones M , Kamal M , Khodiyar VK , LaButti K , Laird G , Lehoczky J , Liu X , Lokyitsang T , Loveland J , Lui A , Macdonald P , Major JE , Matthews L , Mauceli E , McCarroll SA , Mihalev AH , Mudge J , Nguyen C , Nicol R , O'Leary SB , Osoegawa K , Schwartz DC , Shaw-Smith C , Stankiewicz P , Steward C , Swarbreck D , Venkataraman V , Whittaker CA , Yang X , Zimmer AR , Bradley A , Hubbard T , Birren BW , Rogers J , Lander ES , Nusbaum C
Ref : Nature , 440 :1045 , 2006
Abstract :
PubMedSearch : Zody_2006_Nature_440_1045
PubMedID: 16625196
Gene_locus related to this paper: human-NLGN2 , human-NOTUM

Title : DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage - Zody_2006_Nature_440_1045
Author(s) : Zody MC , Garber M , Adams DJ , Sharpe T , Harrow J , Lupski JR , Nicholson C , Searle SM , Wilming L , Young SK , Abouelleil A , Allen NR , Bi W , Bloom T , Borowsky ML , Bugalter BE , Butler J , Chang JL , Chen CK , Cook A , Corum B , Cuomo CA , de Jong PJ , Decaprio D , Dewar K , FitzGerald M , Gilbert J , Gibson R , Gnerre S , Goldstein S , Grafham DV , Grocock R , Hafez N , Hagopian DS , Hart E , Norman CH , Humphray S , Jaffe DB , Jones M , Kamal M , Khodiyar VK , LaButti K , Laird G , Lehoczky J , Liu X , Lokyitsang T , Loveland J , Lui A , Macdonald P , Major JE , Matthews L , Mauceli E , McCarroll SA , Mihalev AH , Mudge J , Nguyen C , Nicol R , O'Leary SB , Osoegawa K , Schwartz DC , Shaw-Smith C , Stankiewicz P , Steward C , Swarbreck D , Venkataraman V , Whittaker CA , Yang X , Zimmer AR , Bradley A , Hubbard T , Birren BW , Rogers J , Lander ES , Nusbaum C
Ref : Nature , 440 :1045 , 2006
Abstract :
PubMedSearch : Zody_2006_Nature_440_1045
PubMedID: 16625196
Gene_locus related to this paper: human-NLGN2 , human-NOTUM