Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PBX1: 783dup; Ser262fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.

Clinical Kidney Journal

Petzold, Friederike F; Jin, Wenjun W; Hantmann, Elena E; Korbach, Katharina K; Schönauer, Ria R; Halbritter, Jan J

Publication Date: 2022-07

Variant appearance in text: PBX1: 783dupC; Ser262Glnfs*2

PubMed Link: 35756743

Variant Present in the following documents:

• Main text
• sfac092.pdf

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Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.

Human Molecular Genetics

Alankarage, Dimuthu D; Szot, Justin O JO; Pachter, Nick N; Slavotinek, Anne A; Selleri, Licia L; Shieh, Joseph T JT; Winlaw, David D; Giannoulatou, Eleni E; Chapman, Gavin G; Dunwoodie, Sally L SL

Publication Date: 2020-05-08

Variant appearance in text: PBX1: S262Qfs*2

PubMed Link: 31625560

Variant Present in the following documents:

• Main text

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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Human Molecular Genetics

Slavotinek, Anne A; Risolino, Maurizio M; Losa, Marta M; Cho, Megan T MT; Monaghan, Kristin G KG; Schneidman-Duhovny, Dina D; Parisotto, Sarah S; Herkert, Johanna C JC; Stegmann, Alexander P A APA; Miller, Kathryn K; Shur, Natasha N; Chui, Jacqueline J; Muller, Eric E; DeBrosse, Suzanne S; Szot, Justin O JO; Chapman, Gavin G; Pachter, Nicholas S NS; Winlaw, David S DS; Mendelsohn, Bryce A BA; Dalton, Joline J; Sarafoglou, Kyriakie K; Karachunski, Peter I PI; Lewis, Jane M JM; Pedro, Helio H; Dunwoodie, Sally L SL; Selleri, Licia L; Shieh, Joseph J

Publication Date: 2017-12-15

Variant appearance in text: PBX1: 783dupC; Ser262Glnfs*2

PubMed Link: 29036646

Variant Present in the following documents:

• Main text

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