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Trivellin G, Sharwood E, Hijazi H, Carvalho CMB, Yuan B, Tatton-Brown K, Coman D, Lupski JR, Cotterill AM, Lodish MB, Stratakis CA. Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc. 2018 ;2(10):1100-1108.
Trivellin G, Sharwood E, Hijazi H, Carvalho CMB, Yuan B, Tatton-Brown K, Coman D, Lupski JR, Cotterill AM, Lodish MB, Stratakis CA. Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc. 2018 ;2(10):1100-1108.
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SWai, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 ;41(1):150-168.
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SWai, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 ;41(1):150-168.
Beckers A, Lodish MBeth, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg J-H, Verrua E, Naves LAnsaneli, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NSamir, Metzger D, Castermans E, Ambrosio MRosaria, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GBarcelos, Casulari LAugusto, Neggers SJ, Salvatori R, Jaffrain-Rea M-L, Zacharin M, Santamaria BLecumberri, Zacharieva S, Lim EMun, Mantovani G, Zatelli MChaira, Collins MT, Bonneville J-F, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, de Herder WW, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
Beckers A, Lodish MBeth, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg J-H, Verrua E, Naves LAnsaneli, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NSamir, Metzger D, Castermans E, Ambrosio MRosaria, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GBarcelos, Casulari LAugusto, Neggers SJ, Salvatori R, Jaffrain-Rea M-L, Zacharin M, Santamaria BLecumberri, Zacharieva S, Lim EMun, Mantovani G, Zatelli MChaira, Collins MT, Bonneville J-F, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, de Herder WW, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
Beckers A, Lodish MBeth, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg J-H, Verrua E, Naves LAnsaneli, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NSamir, Metzger D, Castermans E, Ambrosio MRosaria, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GBarcelos, Casulari LAugusto, Neggers SJ, Salvatori R, Jaffrain-Rea M-L, Zacharin M, Santamaria BLecumberri, Zacharieva S, Lim EMun, Mantovani G, Zatelli MChaira, Collins MT, Bonneville J-F, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, de Herder WW, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
Beckers A, Lodish MBeth, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg J-H, Verrua E, Naves LAnsaneli, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NSamir, Metzger D, Castermans E, Ambrosio MRosaria, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GBarcelos, Casulari LAugusto, Neggers SJ, Salvatori R, Jaffrain-Rea M-L, Zacharin M, Santamaria BLecumberri, Zacharieva S, Lim EMun, Mantovani G, Zatelli MChaira, Collins MT, Bonneville J-F, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, de Herder WW, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
Beckers A, Lodish MBeth, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg J-H, Verrua E, Naves LAnsaneli, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NSamir, Metzger D, Castermans E, Ambrosio MRosaria, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GBarcelos, Casulari LAugusto, Neggers SJ, Salvatori R, Jaffrain-Rea M-L, Zacharin M, Santamaria BLecumberri, Zacharieva S, Lim EMun, Mantovani G, Zatelli MChaira, Collins MT, Bonneville J-F, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, de Herder WW, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KSondergaar, Gunay-Aygun M, Gibbs RA. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019 ;5(3).
Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KSondergaar, Gunay-Aygun M, Gibbs RA. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019 ;5(3).
Farek J, Hughes D, Salerno W, Zhu Y, Pisupati A, Mansfield A, Krasheninina O, English AC, Metcalf GA, Boerwinkle E, Muzny DM, Gibbs RA, Khan Z, Sedlazeck FJ. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 ;12.
Farek J, Hughes D, Salerno W, Zhu Y, Pisupati A, Mansfield A, Krasheninina O, English AC, Metcalf GA, Boerwinkle E, Muzny DM, Gibbs RA, Khan Z, Sedlazeck FJ. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 ;12.
W
Harris TW, Chen N, Cunningham F, Tello-Ruiz M, Antoshechkin I, Bastiani C, Bieri T, Blasiar D, Bradnam K, Chan J, Chen C-K, Chen WJ, Davis P, Kenny E, Kishore R, Lawson D, Lee R, Muller H-M, Nakamura C, Ozersky P, Petcherski A, Rogers A, Sabo A, Schwarz EM, Van Auken K, Wang Q, Durbin R, Spieth J, Sternberg PW, Stein LD. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
Harris TW, Chen N, Cunningham F, Tello-Ruiz M, Antoshechkin I, Bastiani C, Bieri T, Blasiar D, Bradnam K, Chan J, Chen C-K, Chen WJ, Davis P, Kenny E, Kishore R, Lawson D, Lee R, Muller H-M, Nakamura C, Ozersky P, Petcherski A, Rogers A, Sabo A, Schwarz EM, Van Auken K, Wang Q, Durbin R, Spieth J, Sternberg PW, Stein LD. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
Harris TW, Chen N, Cunningham F, Tello-Ruiz M, Antoshechkin I, Bastiani C, Bieri T, Blasiar D, Bradnam K, Chan J, Chen C-K, Chen WJ, Davis P, Kenny E, Kishore R, Lawson D, Lee R, Muller H-M, Nakamura C, Ozersky P, Petcherski A, Rogers A, Sabo A, Schwarz EM, Van Auken K, Wang Q, Durbin R, Spieth J, Sternberg PW, Stein LD. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
Harris TW, Chen N, Cunningham F, Tello-Ruiz M, Antoshechkin I, Bastiani C, Bieri T, Blasiar D, Bradnam K, Chan J, Chen C-K, Chen WJ, Davis P, Kenny E, Kishore R, Lawson D, Lee R, Muller H-M, Nakamura C, Ozersky P, Petcherski A, Rogers A, Sabo A, Schwarz EM, Van Auken K, Wang Q, Durbin R, Spieth J, Sternberg PW, Stein LD. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
Harris TW, Chen N, Cunningham F, Tello-Ruiz M, Antoshechkin I, Bastiani C, Bieri T, Blasiar D, Bradnam K, Chan J, Chen C-K, Chen WJ, Davis P, Kenny E, Kishore R, Lawson D, Lee R, Muller H-M, Nakamura C, Ozersky P, Petcherski A, Rogers A, Sabo A, Schwarz EM, Van Auken K, Wang Q, Durbin R, Spieth J, Sternberg PW, Stein LD. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EYilmaz, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HGurhan, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BMerfort, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, V Sutton R, Lupski JR, Carvalho CMB. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EYilmaz, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HGurhan, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BMerfort, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, V Sutton R, Lupski JR, Carvalho CMB. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.