1. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia. Issue 5 (21st March 2022) Authors: Holling, Tess; Bhavani, Gandham S.; von Elsner, Leonie; Shah, Hitesh; Kausthubham, Neethukrishna; Bhattacharyya, Shaila S.; Shukla, Anju; Mortier, Geert R.; Schinke, Thorsten; Danyukova, Tatyana; Pohl, Sandra; Kutsche, Kerstin; Girisha, Katta M. Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 625 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. Issue 4 (23rd January 2014) Authors: Girisha, Katta M.; Abdollahpour, Hengameh; Shah, Hitesh; Bhavani, Gandham SriLakshmi; Graham, John M.; Boggula, Vijay Raju; Phadke, Shubha R.; Kutsche, Kerstin Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 1035 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. Issue 4 (25th March 2018) Authors: Danyel, Magdalena; Kortüm, Fanny; Dathe, Katarina; Kutsche, Kerstin; Horn, Denise Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 992 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala). Issue 9 (11th May 2022) Authors: Holling, Tess; Lisfeld, Jasmin; Johannsen, Jessika; Matschke, Jakob; Song, Feizhi; Altmeppen, Hermann Clemens; Kutsche, Kerstin Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Issue 9 (15th July 2020) Authors: Harms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, She... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype. Issue 8 (22nd April 2022) Authors: Abdalla, Ebtesam; Alawi, Malik; Meinecke, Peter; Kutsche, Kerstin; Harms, Frederike L. Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2448 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Elsahy–Waters syndrome is caused by biallelic mutations in CDH11. Issue 2 (22nd December 2017) Authors: Harms, Frederike L.; Nampoothiri, Sheela; Anazi, Shams; Yesodharan, Dhanya; Alawi, Malik; Kutsche, Kerstin; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Estrogen and the male hippocampus: Genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men. Issue 2 (6th August 2012) Authors: Bayer, Janine; Rune, Gabriele; Kutsche, Kerstin; Schwarze, Ulrike; Kalisch, Raffael; Büchel, Christian; Sommer, Tobias Journal: Hippocampus Issue: Volume 23:Issue 2(2013:Feb.) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature12. Issue 2 (10th January 2013) Authors: Bierhals, Tatjana; Maddukuri, Satish Babu; Kutsche, Kerstin; Girisha, Katta Mohan Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. Issue 2 (20th October 2006) Authors: Zenker, Martin; Lehmann, Katarina; Schulz, Anna Leana; Barth, Helmut; Hansmann, Dagmar; Koenig, Rainer; Korinthenberg, Rudolf; Kreiss-Nachtsheim, Martina; Meinecke, Peter; Morlot, Susanne; Mundlos, Stefan; Quante, Anne S; Raskin, Salmo; Schnabel, Dirk; Wehner, Lars-Erik; Kratz, Christian P; Horn,... Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗