Etiology
Gupta AO,
Raymond G,
Pierpont EI,
Kemp S,
McIvor RS,
Rayannavar A,
Miller B,
Lund TC,
Orchard PJ
Expert Opin Biol Ther
2022 Sep;22(9):1151-1162.
Epub 2022 Sep 19
doi: 10.1080/14712598.2022.2124857.
PMID: 36107226
Zanni G,
Bertini E
Handb Clin Neurol
2018;155:175-189.
doi: 10.1016/B978-0-444-64189-2.00011-1.
PMID: 29891057
Niturad CE,
Lev D,
Kalscheuer VM,
Charzewska A,
Schubert J,
Lerman-Sagie T,
Kroes HY,
Oegema R,
Traverso M,
Specchio N,
Lassota M,
Chelly J,
Bennett-Back O,
Carmi N,
Koffler-Brill T,
Iacomino M,
Trivisano M,
Capovilla G,
Striano P,
Nawara M,
Rzonca S,
Fischer U,
Bienek M,
Jensen C,
Hu H,
Thiele H,
Altmüller J,
Krause R,
May P,
Becker F;
EuroEPINOMICS Consortium,
Balling R,
Biskup S,
Haas SA,
Nürnberg P,
van Gassen KLI,
Lerche H,
Zara F,
Maljevic S,
Leshinsky-Silver E
Brain
2017 Nov 1;140(11):2879-2894.
doi: 10.1093/brain/awx236.
PMID: 29053855
Hu H,
Haas SA,
Chelly J,
Van Esch H,
Raynaud M,
de Brouwer AP,
Weinert S,
Froyen G,
Frints SG,
Laumonnier F,
Zemojtel T,
Love MI,
Richard H,
Emde AK,
Bienek M,
Jensen C,
Hambrock M,
Fischer U,
Langnick C,
Feldkamp M,
Wissink-Lindhout W,
Lebrun N,
Castelnau L,
Rucci J,
Montjean R,
Dorseuil O,
Billuart P,
Stuhlmann T,
Shaw M,
Corbett MA,
Gardner A,
Willis-Owen S,
Tan C,
Friend KL,
Belet S,
van Roozendaal KE,
Jimenez-Pocquet M,
Moizard MP,
Ronce N,
Sun R,
O'Keeffe S,
Chenna R,
van Bömmel A,
Göke J,
Hackett A,
Field M,
Christie L,
Boyle J,
Haan E,
Nelson J,
Turner G,
Baynam G,
Gillessen-Kaesbach G,
Müller U,
Steinberger D,
Budny B,
Badura-Stronka M,
Latos-Bieleńska A,
Ousager LB,
Wieacker P,
Rodríguez Criado G,
Bondeson ML,
Annerén G,
Dufke A,
Cohen M,
Van Maldergem L,
Vincent-Delorme C,
Echenne B,
Simon-Bouy B,
Kleefstra T,
Willemsen M,
Fryns JP,
Devriendt K,
Ullmann R,
Vingron M,
Wrogemann K,
Wienker TF,
Tzschach A,
van Bokhoven H,
Gecz J,
Jentsch TJ,
Chen W,
Ropers HH,
Kalscheuer VM
Mol Psychiatry
2016 Jan;21(1):133-48.
Epub 2015 Feb 3
doi: 10.1038/mp.2014.193.
PMID: 25644381Free PMC Article
Grozeva D,
Carss K,
Spasic-Boskovic O,
Tejada MI,
Gecz J,
Shaw M,
Corbett M,
Haan E,
Thompson E,
Friend K,
Hussain Z,
Hackett A,
Field M,
Renieri A,
Stevenson R,
Schwartz C,
Floyd JA,
Bentham J,
Cosgrove C,
Keavney B,
Bhattacharya S;
Italian X-linked Mental Retardation Project;
UK10K Consortium;
GOLD Consortium,
Hurles M,
Raymond FL
Hum Mutat
2015 Dec;36(12):1197-204.
Epub 2015 Sep 30
doi: 10.1002/humu.22901.
PMID: 26350204Free PMC Article
Diagnosis
D'Avanzo F,
Rigon L,
Zanetti A,
Tomanin R
Int J Mol Sci
2020 Feb 13;21(4)
doi: 10.3390/ijms21041258.
PMID: 32070051Free PMC Article
Wu Y,
Lyon GJ
Exp Mol Med
2018 Jul 27;50(7):1-10.
doi: 10.1038/s12276-018-0098-x.
PMID: 30054457Free PMC Article
Yates TM,
Turner CL,
Firth HV,
Berg J,
Pilz DT
Clin Genet
2017 Jul;92(1):3-9.
Epub 2016 Nov 30
doi: 10.1111/cge.12864.
PMID: 27625340
Grozeva D,
Carss K,
Spasic-Boskovic O,
Tejada MI,
Gecz J,
Shaw M,
Corbett M,
Haan E,
Thompson E,
Friend K,
Hussain Z,
Hackett A,
Field M,
Renieri A,
Stevenson R,
Schwartz C,
Floyd JA,
Bentham J,
Cosgrove C,
Keavney B,
Bhattacharya S;
Italian X-linked Mental Retardation Project;
UK10K Consortium;
GOLD Consortium,
Hurles M,
Raymond FL
Hum Mutat
2015 Dec;36(12):1197-204.
Epub 2015 Sep 30
doi: 10.1002/humu.22901.
PMID: 26350204Free PMC Article
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978
Therapy
Qian J,
Guan X,
Xie B,
Xu C,
Niu J,
Tang X,
Li CH,
Colecraft HM,
Jaenisch R,
Liu XS
Sci Transl Med
2023 Jan 18;15(679):eadd4666.
doi: 10.1126/scitranslmed.add4666.
PMID: 36652535
Pereira G,
Dória S
J Genet
2021;100
PMID: 34553695
Zhu J,
Eichler F,
Biffi A,
Duncan CN,
Williams DA,
Majzoub JA
Endocr Rev
2020 Aug 1;41(4):577-93.
doi: 10.1210/endrev/bnaa013.
PMID: 32364223Free PMC Article
Kyle SM,
Vashi N,
Justice MJ
Open Biol
2018 Feb;8(2)
doi: 10.1098/rsob.170216.
PMID: 29445033Free PMC Article
Eichler F,
Duncan C,
Musolino PL,
Orchard PJ,
De Oliveira S,
Thrasher AJ,
Armant M,
Dansereau C,
Lund TC,
Miller WP,
Raymond GV,
Sankar R,
Shah AJ,
Sevin C,
Gaspar HB,
Gissen P,
Amartino H,
Bratkovic D,
Smith NJC,
Paker AM,
Shamir E,
O'Meara T,
Davidson D,
Aubourg P,
Williams DA
N Engl J Med
2017 Oct 26;377(17):1630-1638.
Epub 2017 Oct 4
doi: 10.1056/NEJMoa1700554.
PMID: 28976817Free PMC Article
Prognosis
Gujral J,
Sethuram S
Curr Opin Endocrinol Diabetes Obes
2023 Feb 1;30(1):44-51.
Epub 2022 Nov 14
doi: 10.1097/MED.0000000000000782.
PMID: 36373727
van de Stadt SIW,
Huffnagel IC,
Turk BR,
van der Knaap MS,
Engelen M
Neuropediatrics
2021 Aug;52(4):252-260.
Epub 2021 Jun 30
doi: 10.1055/s-0041-1730937.
PMID: 34192790
Zhu J,
Eichler F,
Biffi A,
Duncan CN,
Williams DA,
Majzoub JA
Endocr Rev
2020 Aug 1;41(4):577-93.
doi: 10.1210/endrev/bnaa013.
PMID: 32364223Free PMC Article
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978
Engelen M,
Kemp S,
de Visser M,
van Geel BM,
Wanders RJ,
Aubourg P,
Poll-The BT
Orphanet J Rare Dis
2012 Aug 13;7:51.
doi: 10.1186/1750-1172-7-51.
PMID: 22889154Free PMC Article
Clinical prediction guides
Hiatt SM,
Trajkova S,
Sebastiano MR,
Partridge EC,
Abidi FE,
Anderson A,
Ansar M,
Antonarakis SE,
Azadi A,
Bachmann-Gagescu R,
Bartuli A,
Benech C,
Berkowitz JL,
Betti MJ,
Brusco A,
Cannon A,
Caron G,
Chen Y,
Cochran ME,
Coleman TF,
Crenshaw MM,
Cuisset L,
Curry CJ,
Darvish H,
Demirdas S,
Descartes M,
Douglas J,
Dyment DA,
Elloumi HZ,
Ermondi G,
Faoucher M,
Farrow EG,
Felker SA,
Fisher H,
Hurst ACE,
Joset P,
Kelly MA,
Kmoch S,
Leadem BR,
Lyons MJ,
Macchiaiolo M,
Magner M,
Mandrile G,
Mattioli F,
McEown M,
Meadows SK,
Medne L,
Meeks NJL,
Montgomery S,
Napier MP,
Natowicz M,
Newberry KM,
Niceta M,
Noskova L,
Nowak CB,
Noyes AG,
Osmond M,
Prijoles EJ,
Pugh J,
Pullano V,
Quélin C,
Rahimi-Aliabadi S,
Rauch A,
Redon S,
Reymond A,
Schwager CR,
Sellars EA,
Scheuerle AE,
Shukarova-Angelovska E,
Skraban C,
Stolerman E,
Sullivan BR,
Tartaglia M,
Thiffault I,
Uguen K,
Umaña LA,
van Bever Y,
van der Crabben SN,
van Slegtenhorst MA,
Waisfisz Q,
Washington C,
Rodan LH,
Myers RM,
Cooper GM
Am J Hum Genet
2023 Feb 2;110(2):215-227.
Epub 2022 Dec 30
doi: 10.1016/j.ajhg.2022.12.007.
PMID: 36586412Free PMC Article
Sandweiss AJ,
Brandt VL,
Zoghbi HY
Lancet Neurol
2020 Aug;19(8):689-698.
doi: 10.1016/S1474-4422(20)30217-9.
PMID: 32702338
De Luca C,
Race V,
Keldermans L,
Bauters M,
Van Esch H
Br Med Bull
2020 May 15;133(1):36-48.
doi: 10.1093/bmb/ldz039.
PMID: 32043524
Moortgat S,
Berland S,
Aukrust I,
Maystadt I,
Baker L,
Benoit V,
Caro-Llopis A,
Cooper NS,
Debray FG,
Faivre L,
Gardeitchik T,
Haukanes BI,
Houge G,
Kivuva E,
Martinez F,
Mehta SG,
Nassogne MC,
Powell-Hamilton N,
Pfundt R,
Rosello M,
Prescott T,
Vasudevan P,
van Loon B,
Verellen-Dumoulin C,
Verloes A,
Lippe CV,
Wakeling E,
Wilkie AOM,
Wilson L,
Yuen A,
Study D,
Low KJ,
Newbury-Ecob RA
Eur J Hum Genet
2018 Jan;26(1):64-74.
Epub 2017 Nov 27
doi: 10.1038/s41431-017-0038-6.
PMID: 29180823Free PMC Article
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978