Publications:

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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.

European Journal Of Human Genetics : Ejhg

Riedhammer, Korbinian M KM; Ćomić, Jasmina J; Tasic, Velibor V; Putnik, Jovana J; Abazi-Emini, Nora N; Paripovic, Aleksandra A; Stajic, Natasa N; Meitinger, Thomas T; Nushi-Stavileci, Valbona V; Berutti, Riccardo R; Braunisch, Matthias C MC; Hoefele, Julia J

Publication Date: 2023-03-16

Variant appearance in text: PBX1: 413_419del; Gly138Valfs*40

PubMed Link: 36922632

Variant Present in the following documents:

• Main text
• 41431_2023_Article_1331.pdf

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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: 413_419del; Gly138fs

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: 413_419del; Gly138Valfs*40

PubMed Link: 35756743

Variant Present in the following documents:

• Main text
• sfac092.pdf

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Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.

Frontiers In Genetics

Stippel, Michaela M; Riedhammer, Korbinian M KM; Lange-Sperandio, Bärbel B; Geßner, Michaela M; Braunisch, Matthias C MC; Günthner, Roman R; Bald, Martin M; Schmidts, Miriam M; Strotmann, Peter P; Tasic, Velibor V; Schmaderer, Christoph C; Renders, Lutz L; Heemann, Uwe U; Hoefele, Julia J

Publication Date: 2021

Variant appearance in text: PBX1: 413_419del; Gly138Valfs

PubMed Link: 34122504

Variant Present in the following documents:

• Main text
• fgene-12-642849.pdf

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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.

Frontiers In Pediatrics

Riedhammer, Korbinian Maria KM; Siegel, Corinna C; Alhaddad, Bader B; Montoya, Carmen C; Kovacs-Nagy, Reka R; Wagner, Matias M; Meitinger, Thomas T; Hoefele, Julia J

Publication Date: 2017

Variant appearance in text: PBX1: 413_419delGGGCAGG; Gly138Valfs*40

PubMed Link: 29226118

Variant Present in the following documents:

• Main text
• fped-05-00251.pdf

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Abstracts of the 50th Anniversary ESPN Meeting, Glasgow, September 2017.

Pediatric Nephrology (Berlin, Germany)

Publication Date: 2017-09

Variant appearance in text: PBX1: 413_419del; Gly138Valfs*40

PubMed Link: 28840254

Variant Present in the following documents:

• 467_2017_Article_3753.pdf

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