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Author/Creator Decker, Eva

2. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. Issue 2 (22nd December 2017)

Authors:
Kakar, Naseebullah; Horn, Denise; Decker, Eva; Sowada, Nadine; Kubisch, Christian; Ahmad, Jamil; Borck, Guntram; Bergmann, Carsten
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 2(2018)
Page Start:
438
Record Type:
Journal Article
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3. Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. (December 2018)

Authors:
Molinari, Elisa; Decker, Eva; Mabillard, Holly; Tellez, James; Srivastava, Shalabh; Raman, Shreya; Wood, Katrina; Kempf, Caroline; Alkanderi, Sumaya; Ramsbottom, Simon; Miles, Colin G.; Johnson, Colin A.; Hildebrandt, Friedhelm; Bergmann, Carsten; Sayer, John
Journal:
European journal of human genetics
Issue:
Volume 26:Number 12(2018)
Page Start:
1791
Record Type:
Journal Article
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4. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Issue 12 (1st November 2020)

Authors:
Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari‐Anne M.; Crowley, Suzanne; Sikiric, Alma; Barøy, Tuva; Käsmann‐Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine...
Journal:
Human mutation
Issue:
Volume 41:Issue 12(2020)
Page Start:
2179
Record Type:
Journal Article
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5. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. Issue 12 (14th November 2016)

Authors:
Montalbano, Antonino; Juergensen, Lonny; Roeth, Ralph; Weiss, Birgit; Fukami, Maki; Fricke‐Otto, Susanne; Binder, Gerhard; Ogata, Tsutomu; Decker, Eva; Nuernberg, Gudrun; Hassel, David; Rappold, Gudrun A
Journal:
EMBO molecular medicine
Issue:
Volume 8:Issue 12(2016)
Page Start:
1455
Record Type:
Journal Article
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6. Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the "DFNA48 Gene", as a Cause of Deafness. Issue 5 (31st March 2014)

Authors:
Eisenberger, Tobias; Di Donato, Nataliya; Baig, Shahid M.; Neuhaus, Christine; Beyer, Anke; Decker, Eva; Mürbe, Dirk; Decker, Christian; Bergmann, Carsten; Bolz, Hanno J.
Journal:
Human mutation
Issue:
Volume 35:Issue 5(2014:May)
Page Start:
565
Record Type:
Journal Article
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7. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Issue 14 (6th February 2022)

Authors:
Epting, Daniel; Decker, Eva; Ott, Elisabeth; Eisenberger, Tobias; Bader, Ingrid; Bachmann, Nadine; Bergmann, Carsten
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 14(2022)
Page Start:
2295
Record Type:
Journal Article
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