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Stephenson SEM,
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Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
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Crunk A,
Heise EM,
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Monaghan KG,
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Wentzensen IM,
Cogné B,
Isidor B,
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Vincent M,
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Morgan AT,
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Kaspi A,
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Katrínardóttir H,
Sulem P,
Stefánsson K,
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Mandelstam S,
Morleo M,
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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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Bardhan A,
Bruckner-Tuderman L,
Chapple ILC,
Fine JD,
Harper N,
Has C,
Magin TM,
Marinkovich MP,
Marshall JF,
McGrath JA,
Mellerio JE,
Polson R,
Heagerty AH
Nat Rev Dis Primers
2020 Sep 24;6(1):78.
doi: 10.1038/s41572-020-0210-0.
PMID: 32973163
Dinarvand P,
Davaro EP,
Doan JV,
Ising ME,
Evans NR,
Phillips NJ,
Lai J,
Guzman MA
Arch Pathol Lab Med
2019 Nov;143(11):1382-1398.
Epub 2019 May 9
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PMID: 31070935
Espiard S,
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Asthagiri AR,
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Clinical prediction guides
Li R,
Luo W,
Chen X,
Zeng Q,
Yang S,
Wang P,
Hu J,
Chen A
Nat Commun
2024 Sep 11;15(1):7952.
doi: 10.1038/s41467-024-51824-6.
PMID: 39261450Free 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
Philpott C,
Tovell H,
Frayling IM,
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Espiard S,
Bertherat J
Front Horm Res
2013;41:50-62.
Epub 2013 Mar 19
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PMID: 23652670