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Works (12)

PKD1L1 Is Involved in Congenital Chylothorax

Cells
2024-01-12 | Journal article
Contributors: Jonathan B. Whitchurch; Sophia Schneider; Alina C. Hilger; Ricarda Köllges; Jil D. Stegmann; Lea Waffenschmidt; Laura Dyer; Holger Thiele; Bhanupriya Dhabhai; Tikam Chand Dakal et al.
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Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

Nephron
2023 | Journal article
Contributors: Luca M Schierbaum; Sophia Schneider; Florian Buerger; Abdul Aziz Halawi; Steve Seltzsam; Chunyan Wang; Bixia Zheng; Chen-Han Wilfried Wu; Rufeng Dai; Dervla M. Connaughton et al.
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Recessive CHRM5 variant as a potential cause of neurogenic bladder

American Journal of Medical Genetics Part A
2023-08 | Journal article
Contributors: Sophia Schneider; Luca Schierbaum; Wessel A. C. Burger; Steve Seltzsam; Chunyan Wang; Bixia Zheng; Chen‐Han Wilfred Wu; Makiko Nakayama; Dervla M. Connaughton; Nina Mann et al.
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Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

Biomolecules
2023-07-13 | Journal article
Contributors: Ricarda Köllges; Jil Stegmann; Sophia Schneider; Lea Waffenschmidt; Julia Fazaal; Katinka Breuer; Alina C. Hilger; Gabriel C. Dworschak; Enrico Mingardo; Wolfgang Rösch et al.
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A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

American Journal of Medical Genetics Part A
2023-05 | Journal article
Contributors: Caroline M. Kolvenbach; Bixia Zheng; Lea M. Merz; Nils D. Mertens; Bshara Mansour; Chunyan Wang; Steve Seltzsam; Sophia Schneider; Luca Schierbaum; Dalia Pantel et al.
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Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax

American Journal of Medical Genetics Part A
2022-05 | Journal article
Contributors: Sophia Schneider; Ricarda Köllges; Jil D. Stegmann; Frederic Thieme; Alina C. Hilger; Lea Waffenschmidt; Julia Fazaal; Jeshurun C. Kalanithy; Annegret Geipel; Brigitte Strizek et al.
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Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

American Journal of Medical Genetics Part A
2022-05 | Journal article
Contributors: Chunyan Wang; Steve Seltzsam; Bixia Zheng; Chen‐Han Wilfred Wu; Camille Nicolas‐Frank; Kirollos Yousef; Kit Sing Au; Nina Mann; Dalia Pantel; Sophia Schneider et al.
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A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

American Journal of Medical Genetics Part A
2022-01 | Journal article
Contributors: Bixia Zheng; Chunyan Wang; Steve Seltzsam; Sophia Schneider; Luca Schierbaum; Wilfred Wu; Rufeng Dai; Dervla M. Connaughton; Makiko Nakayama; Nina Mann et al.
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Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.

Genetics in medicine : official journal of the American College of Medical Genetics
2021-11-30 | Journal article
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Sophia Schneider

Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)

Genes
2021-09-20 | Journal article
Contributors: Luca M. Schierbaum; Sophia Schneider; Stefan Herms; Sugirthan Sivalingam; Julia Fabian; Heiko Reutter; Stefanie Weber; Waltraut M. Merz; Marcin Tkaczyk; Monika Miklaszewska et al.
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Whole exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2021-09-02 | Journal article
Source: Self-asserted source
Sophia Schneider

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.

American journal of medical genetics. Part A
2021-08-02 | Journal article
Source: Self-asserted source
Sophia Schneider