AREAS OF CLINICAL EXPERTISE

• Pediatric Cataract
• Pediatric Cornea
• Pediatric Glaucoma
• Craniosynostosis
• Syndromes and Ocular Genetics

 Pediatric Cataract Papers
1. Byles DB, Nischal KK, Cheng H. Ectopia lentis et pupillae. A hypothesis revisited. Ophthalmology. 1998 Jul; 105(7):1331-6.
2. Cassidy L, Rahi J, Nischal KK, Russell-Eggitt I, Taylor D. Outcome of lens aspiration and intraocular lens implantation in children aged 5 years and under. Br J Ophthalmology. 2001 May; 85(5):540-2.
3. Nischal KK. Two-incision push-pull capsulorhexis for pediatric cataract surgery. J Cataract Refract Surg. 2002 Apr; 28(4):593-5.
4. Amaya L, Taylor D, Russell-Eggitt I, Nischal KK, Lengyel D. The morphology and naural history of childhood cataracts. Survey of Ophthalmology. 2003 Mar; 48(2):125-144. PMID: 12686301
5. DeSilva DJ, Nischal KK, Packard RB. Preoperative assessment of secondary intraocular lens implantation for aphakia: A comparison of 2 techniques. J Cat Refr Surg. 2005 Jul;31(7):1351-6.
6. Hamada S, Low S, Walters BC, Nischal KK. Five-year experience of the 2-incision push- pull technique for anterior and posterior capsulorrhexis in pediatric cataract surgery. Ophthalmology. 2006 Aug; 113(8):1309-14.
7. Jones SM, Weinstein JM, Cumberland P Taylor D, Wright KW, Amaya L, Cassidy L, Nischal KK, Russell-Eggitt I, Lightman S, McCluskey P. Should we aggressively treat unilateral congenital cataracts? View 1. Br J Ophthalmology. 2007 Sep; 85(9):1120-1125.
8. Wong IB, Sukthankar VD, Cortina-Borja M, Nischal KK. Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. Br J Ophthalmology. 2009 Sep; 93(9):1200-3. Epub 2009 May 7.
9. Solebo AL, Russell-Eggitt I, Nischal KK, Moore AT, Cumberland P, Rahi JS; British Isles Congenital Cataract Interest Group. Cataract surgery and primary intraocular lens implantation in children < or = 2 years old in the UK and Ireland: finding of national surveys. Br J Ophthalmol. 2009 Nov; 93(11):1495-8.
10. Aragon-Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH, Arno G. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Hum Mutat. 2010 Aug; 31(8): E1622-31.
11. Mataftsi A, Dabbagh A, Moore W, Nischal KK. Evaluation of whether intracameral de80xamethasone predisposes to glaucoma after pediatric cataract surgery. J Cataract Refract Surg. 2012 Jul 26.
12. Matafisi A, Haidich AB, Kokkali S, Rabiah PK, Birch E, Stager DR Jr, Cheong-Leen R, Singh V, Egbert JE, Astle WF, Labert SR, Amitabh P, Khan AO, Grigg J, Arvanitidou M. Dimitrakos SA, Nischal KK. Postoperative Glaucoma Following Infantile Cataract Surgery: An Individual Patient Data Meta-analysis. JAMA Ophthalmol.2014 Jun 12, 2014. 1042.
13. Medsinge A, Nischal KK. Capsular blockage syndrome in child: a case report. Eye (Lond.). 2013 Aug 9.
14. Medsinge A, Nischal KK. Pediatric cataract: challenges and future directions Clin Ophthalmol. 2015 Jan 7; 9:77-90 eCollection 2014. Review.
15. Serafino M, Trivedi RH, Levin AV, Wilson ME, Nucci P, Lambert SR, Nischal KK, Plager DA, Bremond-Gignac D, Kekunnaya R, Nishina S, Tehrani NN, Ventura MC. Use of the Delphi process in paediatric cataract management Br J Ophthalmol. 2016 May; 100(5):611-5.
16. Solebo AL, Russell-Eggitt I, Cumberland PM, Rahi JS; British Isles Congenital Cataract Interest Group. Risks and outcomes associated with primary intraocular lens implantation in children under 2 years of age: the IoLunder2 cohort study. Br J Ophthalmol. 2015 Nov; 99(11):1471-6
17. Nischal KK. State of the Art in Pediatric Cataract Surgery. Dev Ophthalmol. 2016; 57:15-     28.
18. Patil-Chhablani P, Kekunnaya R, Nischal KK. Complex Cases in Pediatric Cataract. Dev Ophthalmol. 2016; 57:85-106.
19. Samant M, Medsinge A, Nischal KK. Pediatric Glaucoma: Pharmacotherapeutic Options. Paediatric Drugs. 2016 Jun; 18(3):209-19.
20. : Nischal KK. Practice patterns in pediatric cataract management: Time for real world data. Indian J Ophthalmol. 2017 Sep;65(9):779-781
21. Chowdhary S, Nischal KK. Banded technique for pediatric traumatic cataract surgery. J Cataract Refract Surg. 2019 Jan;45(1):8-10
22. Odden JL, Davis AA, Shazly TA, Nischal KK. Use of Integrated Intraoperative Ocular Coherence Tomography in Pediatric Cataract Surgery: Thinking outside the Box. Dev Ophthalmol. 2021;61:46-52. doi: 10.1159/000511815. Epub 2021 Feb 16. PMID: 33592616.
 
Pediatric Cornea
1. Nischal KK, Naor J, Jay V, MacKeen LD, Rootman DS. Clinicopathologic correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmology. 2002 Jan; 86(1):62-69
2. Goyal R, Jones S, Espinosa M, Green V, Nischal KK. Amniotic membrane transplantation in children with symblepharon and massive pannus. Arch Ophthalmology. 2006 Oct; 124(10):1435- 40.
3. Nischal KK. Pediatric Keratoplasty. Techniques in Ophthalmology. 2003; 1(2):119-126
4. Ioannidis A, Speedwell L, Nischal KK. Unilateral keratoconus in a child with chronic rubbing. Am J Ophthalmology. 2005 Feb; 139(2):356-357.
5. Jones SM, Klein N, Nischal KK. Visual outcome and corneal changes in children with chronic blepharokeratoconjunctivitis. Ophthalmology. 2007 Dec; 114(12):2271-80.
6. Harding SA, Nischal KK, Upponi-Patil A, Fowler DJ. Indications and outcomes of deep anterior lamellar keratoplasty in children. Ophthalmology. 2010 Nov; 117(11):2191-5.
7. Wong IB, Nischal KK. Managing a child with an external ocular disease. J AAPOS. 2010 Feb; 14(1):68-77.
8. Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK. Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis. 2011; 17:1624-40.
9. Nischal KK. A new approach to the classification of neonatal corneal opacities. Curr Opin Ophthalmol. 2012 Sept; 130(3): 452e – 4e.
10. Narang A, Reddy JC, Idrees Z, Injarie AM, Nischal KK. Long –term outcome of bilateral penetrating karatoplasty in child with xeroderma pigmentosa: case report and literature review. Eye (Lond). 2013 June; (6): 775-6.
11. Medsinge, A., Nischal, K.K. Managing blepharokeratoconjunctivitis in children: A review: Expert review in Ophthalmology 2013; 8(5):485–499
12. Medsinge A., Speedwell L, Nischal KK. Defining Success in Infant Penetrating Keratoplasty for Developmental Corneal Opacities. American Orthoptic Journal 2014
13. Jones SM, Nischal KK. The non-invasive tear film break-up time in normal children. Br J Ophthalmol.2013 Sep; 97(9):1129-33.
14. Medsinge A, Nischal KK. Paediatric keratoplasty: choices and conundrums. Br J Ophthalmol. 2013 Oct; 97(10):1225-7. doi: 10.1136/bjophthalmol-2013-303469. No abstract available
15. Weiss JS, Moller HU, Aldave AJ, Seitz B, Bredrup C, Kivela T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M. Labbe A, Kenyon KR, Kinoshita S, Lisch W. C3D Classification of corneal dystrophies – Edition 2 Cornea. 2015 Feb; 34(2):117-59
16. Nischal KK. Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment. Cornea. 2015 Oct; 34 Suppl 10:S24-34.
17. Nischal KK, Lathrop KL. The Palisades of Vogt in Congenital Corneal Opacification (An American Ophthalmological Society Thesis). Trans Am Opthalmol Soc. 2016 Aug; 113:T8
18. Medsinge A, Nischal KK. Cataract Surgery in Children with congenital keratolenticular adhesion (Peters anomaly type 2) J AAPOS 2015;19:24-28
19. Medsinge A, Gajdosova E, Moore W, Nischal KK. Management of inflammatory corneal melt leading to central perforation in children: a retrospective study and review of literature. Eye (Lond). 2016 Apr; 30(4):593-601.
20. Kim J, Medsinge A, Chauhan B, Wiest C, Scanga H, Monaghan R, Moore WH, Nischal KK. Coenzyme Q10 in the Treatment of Corneal Edema in Kearns-Sayre: Is There an Application in Fuchs Endothelial Corneal Dystrophy? Cornea. 2016 Sep; 35(9):1250-4.
21. Nischal KK, Scanga HL, Kim J. Letters to the Editor. Cornea. 2016 Oct 14. PubMed PMID: 27755197.
22. Nischal KK, Lathrop KL. The Palisades of Vogt in Congenital Corneal Opacification (An American Ophthalmological Society Thesis). Trans Am Opthalmol Soc. 2016 Aug; 113:T8. PubMed PMID: 28042184; PubMed Central PMCID: PMC5161000
23. Kancherla S, Shue A, Pathan MF, Sylvester CL, Nischal KK. Management of Descemet Membrane Detachment After Forceps Birth Injury. Cornea. 2017 Mar; 36(3): 375-376
24. Lalgudi VG, Nischal KK. Pediatric corneal collagen cross-linking for keratoconus: not an experimental procedure. J AAPOS. 2019 Apr;23(2):63-65. doi: 10.1016/j.jaapos.2018.12.001. Epub 2018 Dec 30. PMID: 30599204.
25. Jimenez J, Sakthivel M, Nischal KK, Fedorchak MV. Drug delivery systems and novel formulations to improve treatment of rare corneal disease. Drug Discov Today. 2019 Aug;24(8):1564-1574. doi: 10.1016/j.drudis.2019.03.005. Epub 2019 Mar 12. PMID: 30872110.
26. Shah PR, Williams AM, Pihlblad MS, Nischal KK. Ophthalmic Manifestations of Mycoplasma-Induced Rash and Mucositis. Cornea. 2019 Oct;38(10):1305-1308. doi: 10.1097/ICO.0000000000001985. PMID: 31246679.
27. Lathrop KL, Duncan K, Yu J, Shah PR, Goldstein J, Nischal KK. Development of Corneal Sensation with Remodeling of the Epithelium and the Palisades of Vogt After Corneal Neurotization. Cornea. 2020 Jan 27. doi: 10.1097/ICO.0000000000002269. [Epub ahead of print] PubMed PMID: 31990849.
28. Jimenez J, Washington MA, Resnick JL, Nischal KK, Fedorchak MV. A sustained release cysteamine microsphere/thermoresponsive gel eyedrop for corneal cystinosis improves drug stability. Drug Deliv Transl Res. 2021 Feb 4. doi: 10.1007/s13346-020-00890-6. Epub ahead of print. PMID: 33543397.
29. Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK. Ocular Phenotype of Peters-Plus Syndrome. Cornea. 2021 Oct 8. doi: 10.1097/ICO.0000000000002889. Online ahead of print. PMID: 34629439
30. Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK. Ocular Phenotype of Peters-Plus Syndrome. Cornea. 2022 Feb 1;41(2):219-223. doi: 10.1097/ICO.0000000000002889.PMID: 34629439 Review.
31. Franco E, Gagrani M, Lalgudi VG, Shah PR, Lenhart P, Bhola R, Nischal KK. Technique for the Management of Extensive Ocular Surface Lipodermoid Involving the Cornea in Children. Cornea. 2023 Feb 1. Doi:10.1097/ICO.00000000003245 Online ahead of print. PMID: 36735292
32. Franco E, Scanga HL, Nischal KK. Corneal Plana-Like Phenotype with Peripheral Scleralization Associated with a Pathogenic Variant of PITX2: A Case Report. Cornea. 2023 Jan 20. Doi:10.1097/ICO.00000000003208 Online ahead of print. PMID: 36727872
33. Liasis A, Franco E, Eldib A, Handley S, Scanga HL, Nischal KK. The influence of congenital corneal opacity on ERGs obtained using an abbreviated protocol. Ophthalmic Genet. 2023 Feb:44(1):6-10. Doi10.1080/13816810.2022.2149817. Epub 2022 Dec 21. PMID:36541570
34. Franco E, Iqbal N, Shah PR, Alabek M, Tripi KS, Prescott C, Scanga HL, Chu CT, Nischal KK. Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series.  Cornea. 2023 Mar 1;42(3):344-350. doi: 10.1097/ICO.0000000000003155. Epub 2022 Nov 30. PMID: 36455075
35. Franco E, Scanga HL, Nischal KK. Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.  Am J Med Genet A. 2023 Feb;191(2):586-591. doi: 10.1002/ajmg.a.63043. Epub 2022 Nov 11. PMID: 36369709
36. Franco E, Scanga HL, Jacob S, Chu CT, Nischal KK. Congenital corneal staphyloma in 8q21.11 microdeletion syndrome.   Ophthalmic Genet. 2022 Nov 7:1-5. doi: 10.1080/13816810.2022.2127152. Online ahead of print. PMID: 36341706
37. Ramappa M, Chaurasia S, Mohamed A, Ramya Achanta DS, Mandal AK, Edward DP, Gokhale N, Swarup R, Nischal KK. Selective Endothelialectomy in Peters Anomaly: A Novel Surgical Technique and Its Clinical Outcomes in Children Cornea. 2022 Dec 1;41(12):1477-1486. doi: 10.1097/ICO.0000000000003134. Epub 2022 Oct 17. PMID: 36198649
38. Conner EA, Eldib A, Hiasat JG, Pihlblad MS, Errera MH, Chhablani PP, Gagrani M, Luchansky C, Keim E, Liasis A, Nischal KK. Pediatric oral fluorescein angiography: a retrospective review from a single institution. J AAPOS. 2023Aug;27(4):191.e1-191.e6. doi: 10.1016/j.jaapos.2023.06.004. Epub 2023 Jul 26. PMID: 37507064.
39. Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants. Franco E, Gagrani M, Scanga HL, Areaux RG Jr, Chu CT, Nischal KK.  Cornea. 2023 Oct 3. doi: 10.1097/ICO.0000000000003395. Online ahead of print.  PMID: 37788597
 
Pediatric Glaucoma
1. Mungan NK, Wilson TW, Nischal KK, Koren G, Levin AV. Hypotension, and bradycardia in infants after the use of topical brimonidine and beta-blockers. J AAPOS. 2003 Feb; 7(1):69-70.
2. Morris S, Geh V, Nischal KK, Sahi S, Ahmed MA. Topical dorzolamide and metabolic acidosis in a neonate. Br J Ophthalmology. 2003 Aug; 87(8):1052-3.
3. Ong T, Chia A, Nischal KK. Latanoprost in port wine stain related pediatric glaucoma. Br J Ophthalmology. 2003 Sep; 87(9):1091-3.
4. Bowman RJ, Cope J, Nischal KK. Ocular and systemic side effects of brimonidine 0.2% eye drops (Alphagan) in children. Eye. 2004 Jan; 18(1):24-6.
5. Moore W, Nischal KK. Pharmacologic management of glaucoma in childhood. Pediatric Drugs. 2007; 9(2):71-9.
6. Low S, Hamada S, Nischal KK. Antimetabolite and releasable suture augmented filtration surgery in refractory paediatric glaucomas. J AAPOS. 2008 Apr; 12(2):166-72. Dec 21.
7. Khaier A, Nischal KK, Espinosa M, Manoj, B. Periocular port wine stain: the Great Ormond Street Hospital Experience. Ophthalmology. 2012 Jan; 96(1):90-2
8. Way AL, Nischal KK. High-frequency ultrasound-guided transscleral diode laser cyclophotocoagulation. Br J Ophthalmol. 2014 Jul;98 (7):992-4
9. Medsinge A., Nischal KK. Technique for identifying Schlemm’s canal in paediatric glaucoma surgery Br J Ophthalmol published online March 17, 2015. Br J Ophthalmol. 2015 May; 99(5):715-6.
10. Samant M, Medsinge A, Nischal KK. Pediatric Glaucoma: Pharmacotherapeutic Options. Paediatr Drugs. 2016 Jun; 18(3):209-19.
11. Gupta V, Somarajan BI, Gupta S, Chaurasia AK, Kumar S, Dutta P, Gupta V, Sharma A, Tayo BO, Nischal KK. The inheritance of juvenile onset primary open angle glaucoma. Clin Genet. 2017 Aug;92(2):134-142. doi: 10.1111/cge.12906. Epub 2017 Feb 16. PMID: 27779752.
12. Papadopoulos M, Vanner EA, Nischal KK, Grajewski AL; International Study of Childhood Glaucoma – Childhood Glaucoma Research Network Study Group. International Study of Childhood Glaucoma. Ophthalmol Glaucoma. 2020 Mar-Apr;3(2):145-157. doi: 10.1016/j.ogla.2019.12.007. Epub 2020 Jan 3. PMID: 32672598
13. Eldib A, Janczewski S, Nischal KK. Integrated Intraoperative Optical Coherence Tomography in Pediatric Glaucoma Surgery. Dev Ophthalmol. 2021;61:40-45. doi: 10.1159/000511816. Epub 2021 Feb 16. PMID: 33592614.
 
Craniosynostosis
1. Nischal KK. Ocular aspects of craniofacial disorders. The John Pratt Johnson Lecture 2001. American Orthoptic Journal. 2002; 52:58-68.
2. Liasis A, Thompson D, Hayward R, Nischal KK. Sustained raised intracranial pressure implicated only by pattern reversal visual evoked potentials after cranial vault expansion surgery. Pediatr Neurosurg. 2003 Jul; 39(2):75-80.
3. Khan SH, Nischal KK, Dean F, Hayward R, Walker J. Visual outcomes and amblyogenic risk factors in craniosynostotic syndromes: a review of 141 cases. Br J Ophthalmology. 2003 Aug; 87(8):999-1003.
4. Rattigan S, Nischal KK. Foster-type modification of the Knapp procedure for anomalous superior rectus muscles in syndromic craniosynostoses. J AAPOS. 2003 Aug; 7(4):279-82.
5. Dansingani KK, Al-Khaier A, Russell-Eggitt IM, Nischal KK. Intrastromal corneal bleb: An unusual complication following trabeculectomy for congenital glaucoma. Management of intracorneal bleb after trabeculectomy for congenital glaucoma. Cornea. 2005 May; 24(4):486-8.
6. Liasis A., Nischal K.K., Leighton S., Yap S., Hayward R., Dunaway D. Adenoid- tonsillectomy to treat visual dysfunction in a child with craniosynostosis. Pediatric Neurosurgery. 2005 Jul-Aug; 41(4):197-200.
7. Khan SH, Britto JA, Evans RD, Nischal KK. Expression of FGFR-2 and FGFR-3 in the no7rmal human fetal orbit. Br J Ophthalmology. 2005 Dec; 89(12):1643-5.
8. Thompson DA, Liasis A, Hardy S, Hagan R, Hayward RD, Evans RD, Nischal KK. Prevalence of abnormal pattern reversal visual evoked potentials in craniosynostosis. Plast Reconstr Surg. 2006 Jul; 118(1):184-92.
9. Liasis A, Nischal KK, Walters B, Thompson D, Hardy S, Towell A, Dunaway D, Jones B, Evans R, Hayward R. Monitoring visual function in children with syndromic craniosynostosis: A comparison of 3 methods. Arch Ophthalmology. 2006 Aug; 124(8):1119- 26.
10. Liasis A, Walters B, Thompson D, Smith K, Hayward R, Nischal KK. Visual field loss in children with craniosynostosis. Childs Nerv Syst. 2011 Aug; 27(8):1289-96.
11. Nischal KK, Smith DM, Losee JE. Discussion: nocturnal ultrasound measurements of optic nerve sheath diameter correlate with intracranial pressure in children with craniosynostosis.Plast Reconstr Surg. 2012 Sep; 130(3):452e-4e.
12. Nischal, KK Visual. Surveillance in craniosynostoses. American Orthoptic Journal 2014;64 (1): 24-31
13. Ruane EJ, Garland CB, Camison L, Fenton RA, Nischal KK, Pollack IF, Tamber MS, Grunwaldt LJ, Losee JE, Goldstein JA. A Treatment Algorithm for Patients Presenting with Sagittal Craniosynostosis after the Age of 1 Year. Plast Reconstr Surg. 2017 Sep;140(3):582-590.
14. Haredy M, Zuccoli G, Tamber M, Davis A, Nischal KK, Goldstein JA. Use of neuroimaging measurements of optic nerve sheath diameter to assess intracranial pressure in craniosynostosis. Childs Nerv Syst. 2018 May;34(5):939-946.
15. Ganesh A, Edmond J, Forbes B, Katowitz WR, Nischal KK, Miller M, Levin AV. An update of ophthalmic management in craniosynostosis. J AAPOS. 2019 Apr;23(2):66-76. doi: 10.1016/j.jaapos.2018.10.016. Epub 2019 Mar 27. PMID: 30928366.
16. Haredy MM, Liasis A, Davis A, Koesarie K, Fu V, Losee JE, Goldstein JA, Nischal KK. Serial, Visually Evoked Potentials for the Assessment of Visual Function in Patients with Craniosynostosis. J Clin Med. 2019 Sep 27;8(10):1555. doi: 10.3390/jcm8101555. PMID: 31569741; PMCID: PMC6832611.
17. : Haredy MM, Liasis A, Fu V, Davis A, Pollack IF, Losee JE, Saied S, Nischal KK, Goldstein JA. Serial Visual Evoked Potentials in Patients with Craniosynostosis and Invasive Intracranial Pressure Monitoring. Plast Reconstr Surg. 2019 Sep;144(3):446e-452e. doi: 10.1097/PRS.0000000000005935. PMID: 31461033.
18. Haredy MM, Liasis A, Davis A, Koesarie K, Fu V, Losee JE, Goldstein JA, Nischal KK. Serial, Visually Evoked Potentials for the Assessment of Visual Function in Patients with Craniosynostosis. J Clin Med. 2019 Sep 27;8(10). pii:E1555. doi: 10.3390/jcm8101555. PubMed PMID: 31569741; PubMed Central PMCID: PMC6832611.
 
Syndromes and Ocular Genetics
1. Nischal KK, Hingorani M, Vivian A, Baker A, Mieli-Vergani G, Bird AC, Bentley CR, Aclimandos W. Ocular ultrasound in Alagille syndrome: a new sign. Ophthalmology. 1997 Jan;
2. Hingorani M, Nischal KK, Davies A, Bentley C, Vivian A, Baker A, Mieli-Vergani G, Bird AC, Aclimandos W. Ocular abnormalities in Alagille syndrome. Ophthalmology. 1999 Feb; 106(2):330-7.
3. Kelberman D, Islam L, Jacques TS, Russell-Eggitt I, Bitner-Glindzicz M, Khaw PT, Nischal KK, Sowden JC. CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel’s ulcer revisited. Ophthalmology. 2011 Sep; 118(9):1865-
4. Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC. Digenic inheritance of mutations in FOXC1 and PITX2: Correlating transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat. 2011 Oct; 32(10):1144-52. Epub 2011 Sep 8.
5. Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Blidzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet. 2014 Jan 12.
6. Scanga HL, Nischal KK. Genetics and ocular disorders: a focused review. Pediatr Clin North Am. 2014 June: 61(3):555-65.
7. Weiss JS, Moller HU, Aldave AJ, Seitz B., Bredrup C, Kivela T, Munier FL, Rapano CJ, Nischal KK, Kim EK, Sutphin J, Busin M. Labbe A, Keyon KR, Kinoshita S, Lisch W. IC3D Classification of Corneal Dystrophies-Edition 2. Cornea. 2014 Feb; 34(2); 117-59
8. Scanga HL, Nischal KK. Genetics and ocular disorders: a focused review. Pediatr Clin North Am. 2014 Jun; 61(3):555-65. doi: 10.1016/j.pcl.2014.03.005
9. Islam L, Kelberman D, Williamson L, Lewis N, Glindzicz MD, Nischal KK, Sowden JC. Functional Analysis of FOXE3 Mutations Causing Dominate and Recessive Ocular Anterior Segment Disease. Hum Mutat. 2015 Mar; 36(3):296-300.
10. Chauhan BK, Hoover JM, Scanga H, Medsinge A, Arnold GL, Nischal KK. Isolated Sagittal Synostosis in a boy with Craniofrantonasal Dysplasis and Novel EFNB1 Mutation. Plast Reconstr Surg Glob Open. 2015 Jul 8; 3 (6):e427.
11. Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco- Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One. 2016 Apr 28; 11(4):e0153757.
12. Partha R, Chauhan BK, Ferreira Z, Robinson JD, Lathrop K, Nischal KK, Chikina M, Clark NL. Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling. Elife. 2017 Oct 16;6. pii: e25884.
13. Chauhan BK, Medsinge A, Baumgartner MP, Scanga HL, Kamakari S, Gajdosova E,
14. Camacho CJ, Nischal KK. Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations. Am J Ophthalmol Case Rep. 2018 Feb 28;10:172-179.
15. Taubenslag KJ, Scanga HL, Huey J, Lee J, Medsinge A, Sylvester CL, Cheng KP, Nischal KK. Iris anomalies and the incidence of ACTA2 mutation. Br J Ophthalmol. 2018 Jun 6. pii: bjophthalmol-2018-312306.
16. Kapoor S, Scanga HL, Reyes-Múgica M, Nischal KK. Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome. Am J Med Genet A. 2021 Jul 13. doi: 10.1002/ajmg.a.62422. Epub ahead of print. PMID: 34254724.
17. Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK. Ocular Phenotype of Peters-Plus Syndrome. Cornea. 2021 Oct 8. doi: 10.1097/ICO.0000000000002889. Online ahead of print. PMID: 34629439
18. Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK. Ocular Phenotype of Peters-Plus Syndrome. Cornea. 2022 Feb 1;41(2):219-223. doi: 10.1097/ICO.0000000000002889.PMID: 34629439 Review.
19. Eldib AA, Patil P, Nischal KK, Mitchell ER, Hiasat JG, Pihlblad MS. Safety of apraclonidine eye drops in diagnosis of Horner syndrome in an outpatient pediatric ophthalmology clinic. J AAPOS. 2021 Dec;25(6):336.e1-336.e4. doi: 10.1016/j.jaapos.2021.07.011. Epub 2021 Nov 2.PMID: 34737082
20. Paez-Escamilla M, Scanga HL, Liasis A, Nischal KK. Macular atrophy in JAG1-related Alagille syndrome: a case series.  Ophthalmic Genet. 2022 Apr;43(2):230-234. doi: 10.1080/13816810.2021.2004432. Epub 2021 Dec 10.PMID: 34886763
21. Franco E, Iqbal N, Shah PR, Alabek M, Tripi KS, Prescott C, Scanga HL, Chu CT, Nischal KK. Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series.  Cornea. 2023 Mar 1;42(3):344-350. doi: 10.1097/ICO.0000000000003155. Epub 2022 Nov 30. PMID: 36455075
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