Etiology
Alstrup M,
Cesca F,
Krawczun-Rygmaczewska A,
López-Menéndez C,
Pose-Utrilla J,
Castberg FC,
Bjerager MO,
Finnila C,
Kruer MC,
Bakhtiari S,
Padilla-Lopez S,
Manwaring L,
Keren B,
Afenjar A,
Galatolo D,
Scalise R,
Santorelli FM,
Shillington A,
Vezain M,
Martinovic J,
Stevens C,
Gowda VK,
Srinivasan VM,
Thiffault I,
Pastinen T,
Baranano K,
Lee A,
Granadillo J,
Glassford MR,
Keegan CE,
Matthews N,
Saugier-Veber P,
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Østergaard E
Genet Med
2024 Nov;26(11):101219.
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Serey-Gaut M,
Cortes M,
Makrythanasis P,
Suri M,
Taylor AMR,
Sullivan JA,
Asleh AN,
Mitra J,
Dar MA,
McNamara A,
Shashi V,
Dugan S,
Song X,
Rosenfeld JA,
Cabrol C,
Iwaszkiewicz J,
Zoete V,
Pehlivan D,
Akdemir ZC,
Roeder ER,
Littlejohn RO,
Dibra HK,
Byrd PJ,
Stewart GS,
Geckinli BB,
Posey J,
Westman R,
Jungbluth C,
Eason J,
Sachdev R,
Evans CA,
Lemire G,
VanNoy GE,
O'Donnell-Luria A,
Mau-Them FT,
Juven A,
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Nixon CY,
Zhu Y,
Ha T,
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2023 Mar 2;110(3):499-515.
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Psychiatr Clin North Am
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Diagnosis
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Saleh S,
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Clin Genet
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PMID: 34374989
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Loi A,
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Clin Genet
2020 Jan;97(1):209-221.
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Reuter MS,
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Ekici AB,
Uebe S,
Wienker TF,
Bartsch O,
Zechner U,
Oppitz C,
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Jamra RA,
Najmabadi H,
Schweiger S,
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Am J Med Genet A
2014 Nov;164A(11):2753-63.
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Therapy
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
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Matevosyan NR
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Tazir M,
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Mol Genet Metab
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Roques G,
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Pediatr Blood Cancer
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Zlotogora J
Hum Genet
2010 Nov;128(5):473-9.
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Prognosis
Alstrup M,
Cesca F,
Krawczun-Rygmaczewska A,
López-Menéndez C,
Pose-Utrilla J,
Castberg FC,
Bjerager MO,
Finnila C,
Kruer MC,
Bakhtiari S,
Padilla-Lopez S,
Manwaring L,
Keren B,
Afenjar A,
Galatolo D,
Scalise R,
Santorelli FM,
Shillington A,
Vezain M,
Martinovic J,
Stevens C,
Gowda VK,
Srinivasan VM,
Thiffault I,
Pastinen T,
Baranano K,
Lee A,
Granadillo J,
Glassford MR,
Keegan CE,
Matthews N,
Saugier-Veber P,
Iglesias T,
Østergaard E
Genet Med
2024 Nov;26(11):101219.
Epub 2024 Jul 18
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PMID: 39033379
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
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2022 Apr;63(4):974-991.
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Abusrair A,
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Reuter MS,
Musante L,
Hu H,
Diederich S,
Sticht H,
Ekici AB,
Uebe S,
Wienker TF,
Bartsch O,
Zechner U,
Oppitz C,
Keleman K,
Jamra RA,
Najmabadi H,
Schweiger S,
Reis A,
Kahrizi K
Am J Med Genet A
2014 Nov;164A(11):2753-63.
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Morris-Rosendahl D
J Pediatr Endocrinol Metab
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Clinical prediction guides
Almannai M,
Marafi D,
Zaki MS,
Maroofian R,
Efthymiou S,
Saadi NW,
Filimban B,
Dafsari HS,
Rahman F,
Maqbool S,
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2024 Jun;105(6):620-629.
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PMID: 38356149Free PMC Article
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
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PMID: 36315648Free PMC Article
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
Weissman B,
Wolfe L,
Reymond A,
De Nittis P,
Poduri A,
Olson H,
Striano P,
Lesca G,
Scheffer IE,
Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
doi: 10.1111/epi.17173.
PMID: 35179230
Dolgin V,
Straussberg R,
Xu R,
Mileva I,
Yogev Y,
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Reuter MS,
Musante L,
Hu H,
Diederich S,
Sticht H,
Ekici AB,
Uebe S,
Wienker TF,
Bartsch O,
Zechner U,
Oppitz C,
Keleman K,
Jamra RA,
Najmabadi H,
Schweiger S,
Reis A,
Kahrizi K
Am J Med Genet A
2014 Nov;164A(11):2753-63.
Epub 2014 Aug 14
doi: 10.1002/ajmg.a.36723.
PMID: 25125150