Etiology
Shepherdson JL,
Hutchison K,
Don DW,
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,
Gilfillan CP,
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,
Corbett MA,
Gecz J,
Nicolet CM,
Farnham PJ,
Kim CH,
Shinawi M
Am J Hum Genet
2024 Mar 7;111(3):487-508.
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PMID: 38325380Free PMC Article
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
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PMID: 35395208Free PMC Article
Duncan AR,
Vitobello A,
Collins SC,
Vancollie VE,
Lelliott CJ,
Rodan L,
Shi J,
Seman AR,
Agolini E,
Novelli A,
Prontera P,
Guillen Sacoto MJ,
Santiago-Sim T,
Trimouille A,
Goizet C,
Nizon M,
Bruel AL,
Philippe C,
Grant PE,
Wojcik MH,
Stoler J,
Genetti CA,
van Dooren MF,
Maas SM,
Alders M,
Faivre L,
Sorlin A,
Yoon G,
Yalcin B,
Agrawal PB
Am J Hum Genet
2020 Dec 3;107(6):1170-1177.
Epub 2020 Nov 23
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PMID: 33232677Free PMC Article
Suzumura H,
Arisaka O
Adv Exp Med Biol
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PMID: 20687508
Ascoli P,
Cavagnini F
Pituitary
2006;9(4):335-42.
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PMID: 17077946
Diagnosis
Gavril EC,
Nucă I,
Pânzaru MC,
Ivanov AV,
Mihai CT,
Antoci LM,
Ciobanu CG,
Rusu C,
Popescu R
Genes (Basel)
2023 Feb 11;14(2)
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PMID: 36833393Free PMC Article
Stenton SL,
Zou Y,
Cheng H,
Liu Z,
Wang J,
Shen D,
Jin H,
Ding C,
Tang X,
Sun S,
Han H,
Ma Y,
Zhang W,
Jin R,
Wang H,
Sun D,
Lv JL,
Prokisch H,
Fang F
Ann Neurol
2022 Apr;91(4):466-482.
Epub 2022 Mar 6
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PMID: 35094435
Yang L,
Shu X,
Mao S,
Wang Y,
Du X,
Zou C
Genes (Basel)
2021 Jun 28;12(7)
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PMID: 34203304Free PMC Article
Wozniak JR,
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Lancet Neurol
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Hoyme HE,
Kalberg WO,
Elliott AJ,
Blankenship J,
Buckley D,
Marais AS,
Manning MA,
Robinson LK,
Adam MP,
Abdul-Rahman O,
Jewett T,
Coles CD,
Chambers C,
Jones KL,
Adnams CM,
Shah PE,
Riley EP,
Charness ME,
Warren KR,
May PA
Pediatrics
2016 Aug;138(2)
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Therapy
Santoro JD,
Spinazzi NA,
Filipink RA,
Hayati-Rezvan P,
Kammeyer R,
Patel L,
Sannar EA,
Dwyer L,
Banerjee AK,
Khoshnood M,
Jafarpour S,
Boyd NK,
Partridge R,
Gombolay GY,
Christy AL,
Real de Asua D,
Del Carmen Ortega M,
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Van Mater H,
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Neurochirurgie
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Mostafalou S,
Abdollahi M
Arch Toxicol
2017 Feb;91(2):549-599.
Epub 2016 Oct 8
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PMID: 27722929
Hoyme HE,
Kalberg WO,
Elliott AJ,
Blankenship J,
Buckley D,
Marais AS,
Manning MA,
Robinson LK,
Adam MP,
Abdul-Rahman O,
Jewett T,
Coles CD,
Chambers C,
Jones KL,
Adnams CM,
Shah PE,
Riley EP,
Charness ME,
Warren KR,
May PA
Pediatrics
2016 Aug;138(2)
Epub 2016 Jul 27
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PMID: 27464676Free PMC Article
Ascoli P,
Cavagnini F
Pituitary
2006;9(4):335-42.
doi: 10.1007/s11102-006-0416-5.
PMID: 17077946
Prognosis
Oppermann H,
Marcos-Grañeda E,
Weiss LA,
Gurnett CA,
Jelsig AM,
Vineke SH,
Isidor B,
Mercier S,
Magnussen K,
Zacher P,
Hashim M,
Pagnamenta AT,
Race S,
Srivastava S,
Frazier Z,
Maiwald R,
Pergande M,
Milani D,
Rinelli M,
Levy J,
Krey I,
Fontana P,
Lonardo F,
Riley S,
Kretzer J,
Rankin J,
Reis LM,
Semina EV,
Reuter MS,
Scherer SW,
Iascone M,
Weis D,
Fagerberg CR,
Brasch-Andersen C,
Hansen LK,
Kuechler A,
Noble N,
Gardham A,
Tenney J,
Rathore G,
Beck-Woedl S,
Haack TB,
Pavlidou DC,
Atallah I,
Vodopiutz J,
Janecke AR,
Hsieh TC,
Lesmann H,
Klinkhammer H,
Krawitz PM,
Lemke JR,
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Eur J Hum Genet
2023 Nov;31(11):1251-1260.
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PMID: 37644171Free PMC Article
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Venkataramany AS,
Schieffer KM,
Lee K,
Cottrell CE,
Wang PY,
Mardis ER,
Cripe TP,
Chandler DS
Ann Oncol
2022 Jun;33(6):578-592.
Epub 2022 Mar 23
doi: 10.1016/j.annonc.2022.03.011.
PMID: 35339647
Stenton SL,
Zou Y,
Cheng H,
Liu Z,
Wang J,
Shen D,
Jin H,
Ding C,
Tang X,
Sun S,
Han H,
Ma Y,
Zhang W,
Jin R,
Wang H,
Sun D,
Lv JL,
Prokisch H,
Fang F
Ann Neurol
2022 Apr;91(4):466-482.
Epub 2022 Mar 6
doi: 10.1002/ana.26313.
PMID: 35094435
Clinical prediction guides
Gavril EC,
Nucă I,
Pânzaru MC,
Ivanov AV,
Mihai CT,
Antoci LM,
Ciobanu CG,
Rusu C,
Popescu R
Genes (Basel)
2023 Feb 11;14(2)
doi: 10.3390/genes14020465.
PMID: 36833393Free PMC Article
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Stenton SL,
Zou Y,
Cheng H,
Liu Z,
Wang J,
Shen D,
Jin H,
Ding C,
Tang X,
Sun S,
Han H,
Ma Y,
Zhang W,
Jin R,
Wang H,
Sun D,
Lv JL,
Prokisch H,
Fang F
Ann Neurol
2022 Apr;91(4):466-482.
Epub 2022 Mar 6
doi: 10.1002/ana.26313.
PMID: 35094435
Kummeling J,
Stremmelaar DE,
Raun N,
Reijnders MRF,
Willemsen MH,
Ruiterkamp-Versteeg M,
Schepens M,
Man CCO,
Gilissen C,
Cho MT,
McWalter K,
Sinnema M,
Wheless JW,
Simon MEH,
Genetti CA,
Casey AM,
Terhal PA,
van der Smagt JJ,
van Gassen KLI,
Joset P,
Bahr A,
Steindl K,
Rauch A,
Keller E,
Raas-Rothschild A,
Koolen DA,
Agrawal PB,
Hoffman TL,
Powell-Hamilton NN,
Thiffault I,
Engleman K,
Zhou D,
Bodamer O,
Hoefele J,
Riedhammer KM,
Schwaibold EMC,
Tasic V,
Schubert D,
Top D,
Pfundt R,
Higgs MR,
Kramer JM,
Kleefstra T
Mol Psychiatry
2021 Jun;26(6):2013-2024.
Epub 2020 Apr 28
doi: 10.1038/s41380-020-0725-5.
PMID: 32346159
Hoyme HE,
Kalberg WO,
Elliott AJ,
Blankenship J,
Buckley D,
Marais AS,
Manning MA,
Robinson LK,
Adam MP,
Abdul-Rahman O,
Jewett T,
Coles CD,
Chambers C,
Jones KL,
Adnams CM,
Shah PE,
Riley EP,
Charness ME,
Warren KR,
May PA
Pediatrics
2016 Aug;138(2)
Epub 2016 Jul 27
doi: 10.1542/peds.2015-4256.
PMID: 27464676Free PMC Article