1. Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease. Issue 1 (March 2020) Authors: Walsh, Rachel; Batra, Dushyant; Dixit, Abhijit; Bhatt, Jayesh Mahendra Journal: Breathe Issue: Volume 16:Issue 1(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 173A, Number 10, October 2017. Issue 10 (18th September 2017) Authors: Bashir, Rani A.; Dixit, Abhijit; Goedhart, Caitlin; Parboosingh, Jillian S.; Innes, Allan M.; Ferreira, Patrick; Hasan, Shabih U.; Au, Ping‐Yee B. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 173A, Number 10, October 2017. Issue 10 (October 2017) Authors: Bashir, Rani A.; Dixit, Abhijit; Goedhart, Caitlin; Parboosingh, Jillian S.; Innes, Allan M.; Ferreira, Patrick; Hasan, Shabih U.; Au, Ping‐Yee B. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder. Issue 12 (10th August 2022) Authors: Janssen, Beau D. E.; van den Boogaard, Marie‐Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury‐Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Õunap, Katrin; Firth, Helen V.; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, R... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017) Authors: Stals, Karen L.; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C.; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F.; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Ch... Journal: Prenatal diagnosis Issue: Volume 38:Number 1(2018) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Issue 11 (26th August 2021) Authors: Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J.; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L.; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertra... Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genomic medicine for the paediatrician. Issue 4 (April 2019) Authors: Hastings, Richard; Dixit, Abhijit Journal: Paediatrics and child health Issue: Volume 29:Issue 4(2019) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. Issue 10 (11th July 2017) Authors: Bashir, Rani A.; Dixit, Abhijit; Goedhart, Caitlin; Parboosingh, Jillian S.; Innes, Allan M.; Ferreira, Patrick; Hasan, Shabih U.; Au, Ping‐Yee B. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2596 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. MO030: Familial clustering of a rare UMOD variant in undiagnosed hereditary nephropathy suggests the presence of a common ancestral founder mutation. (3rd May 2022) Authors: Kai Xin Chung, Noelle; Valluru, Manoj; Butland, Laura; Cook, Jackie; Dixit, Abhijit; Ong, Albert Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms. Issue 3 (11th February 2013) Authors: Antony, Dinu; Becker‐Heck, Anita; Zariwala, Maimoona A.; Schmidts, Miriam; Onoufriadis, Alexandros; Forouhan, Mitra; Wilson, Robert; Taylor‐Cox, Theresa; Dewar, Ann; Jackson, Claire; Goggin, Patricia; Loges, Niki T.; Olbrich, Heike; Jaspers, Martine; Jorissen, Mark; Leigh, Margaret W.; Wolf, Whit... Journal: Human mutation Issue: Volume 34:Issue 3(2013:Mar.) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗