Publications:

Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.

Journal Of Medical Genetics

Nakano, Tomohiro T; Sasahara, Yoji Y; Kikuchi, Atsuo A; Moriya, Kunihiko K; Niizuma, Hidetaka H; Niihori, Tetsuya T; Shirota, Matsuyuki M; Funayama, Ryo R; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S

Publication Date: 2022-05-09

Variant appearance in text: POLE: 62+1G>A

PubMed Link: 35534205

Variant Present in the following documents:

• Main text
• jmedgenet-2021-108300.pdf

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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Genes & Development

Parry, David A DA; Tamayo-Orrego, Lukas L; Carroll, Paula P; Marsh, Joseph A JA; Greene, Philip P; Murina, Olga O; Uggenti, Carolina C; Leitch, Andrea A; , ; Káposzta, Rita R; Merő, Gabriella G; Nagy, Andrea A; Orlik, Brigitta B; Kovács-Pászthy, Balázs B; Quigley, Alan J AJ; Riszter, Magdolna M; Rankin, Julia J; Reijns, Martin A M MAM; Szakszon, Katalin K; Jackson, Andrew P AP; ,

Publication Date: 2020-11-01

Variant appearance in text: POLE: 62+1G>A

PubMed Link: 33060134

Variant Present in the following documents:

• supp_gad.340190.120_Supplemental_Table_S3.xlsx, sheet 1

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DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

American Journal Of Human Genetics

Logan, Clare V CV; Murray, Jennie E JE; Parry, David A DA; Robertson, Andrea A; Bellelli, Roberto R; Tarnauskaitė, Žygimantė Ž; Challis, Rachel R; Cleal, Louise L; Borel, Valerie V; Fluteau, Adeline A; Santoyo-Lopez, Javier J; , ; Aitman, Tim T; Barroso, Inês I; Basel, Donald D; Bicknell, Louise S LS; Goel, Himanshu H; Hu, Hao H; Huff, Chad C; Hutchison, Michele M; Joyce, Caroline C; Knox, Rachel R; Lacroix, Amy E AE; Langlois, Sylvie S; McCandless, Shawn S; McCarrier, Julie J; Metcalfe, Kay A KA; Morrissey, Rose R; Murphy, Nuala N; Netchine, Irène I; O'Connell, Susan M SM; Olney, Ann Haskins AH; Paria, Nandina N; Rosenfeld, Jill A JA; Sherlock, Mark M; Syverson, Erin E; White, Perrin C PC; Wise, Carol C; Yu, Yao Y; Zacharin, Margaret M; Banerjee, Indraneel I; Reijns, Martin M; Bober, Michael B MB; Semple, Robert K RK; Boulton, Simon J SJ; Rios, Jonathan J JJ; Jackson, Andrew P AP

Publication Date: 2018-12-06

Variant appearance in text: POLE: 62+1G>A

PubMed Link: 30503519

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.

Molecular Cell

Bellelli, Roberto R; Borel, Valerie V; Logan, Clare C; Svendsen, Jennifer J; Cox, Danielle E DE; Nye, Emma E; Metcalfe, Kay K; O'Connell, Susan M SM; Stamp, Gordon G; Flynn, Helen R HR; Snijders, Ambrosius P AP; Lassailly, François F; Jackson, Andrew A; Boulton, Simon J SJ

Publication Date: 2018-05-17

Variant appearance in text: POLE: 62+1G>A

PubMed Link: 29754823

Variant Present in the following documents:

• Main text

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