1. Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins. Issue 1 (4th April 2022) Authors: Gupta, Neha; D'Acierno, Mariavittoria; Zona, Enrica; Capasso, Giovambattista; Zacchia, Miriam Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. Issue 1 (30th April 2022) Authors: Cappuccio, Gerarda; Brillante, Simona; Tammaro, Roberta; Pinelli, Michele; De Bernardi, Margherita Lucia; Gensini, Maria Grazia; Bijlsma, Emilia K.; Koopmann, Tamara T.; Hoffer, Mariette J. V.; McDonald, Kimberly; Hendon, Laura G.; Douzgou, Sofia; Deshpande, Charulata; D'Arrigo, Stefano; Torella,... Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease. Issue 1 (15th March 2022) Authors: Olinger, Eric; Phakdeekitcharoen, Pran; Caliskan, Yasar; Orr, Sarah; Mabillard, Holly; Pickles, Charles; Tse, Yincent; Wood, Katrina; Sayer, John A. Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations. Issue 1 (29th March 2022) Authors: Nielsen, Kim G; Holgersen, Mathias G; Crowley, Suzanne; Marthin, June K Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 190, Number 1, March 2022. Issue 1 (16th May 2022) Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genotype–phenotype correlates in Joubert syndrome: A review. Issue 1 (3rd March 2022) Authors: Gana, Simone; Serpieri, Valentina; Valente, Enza Maria Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. OFD1: One gene, several disorders. Issue 1 (2nd February 2022) Authors: Pezzella, Nunziana; Bove, Guglielmo; Tammaro, Roberta; Franco, Brunella Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation. Issue 1 (27th March 2022) Authors: Kos, Renate; Israëls, Joël; van Gogh, Christine D. L.; Altenburg, Josje; Diepenhorst, Sandra; Paff, Tamara; Boon, Elles M. J.; Micha, Dimitra; Pals, Gerard; Neerincx, Anne H.; Maitland‐van der Zee, Anke H.; Haarman, Eric G. Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Publication schedule for 2022. Issue 1 (16th May 2022) Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome. Issue 1 (8th April 2022) Authors: Thomas, Davis C.; Moorthy, Janani Dakshina; Prabhakar, Vaishnavi; Ajayakumar, Ahana; Pitchumani, Priyanka Kodaganallur Other Names: Franco Brunella guestEditor.; Omran Heymut guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 1(2022) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗