Mr. Gaurav Vijay Harlalka
PhD and Postdoctoral Fellowship, UKDepartment : Pharmacology
+91-7498032048
gauravh12@yahoo.co.in
gauravh12@yahoo.co.in
Total Experience in Years
Teaching: 02 Industry: 01 Research: 11
No. of Papers Published
National: 01
International: 25
International: 25
Papers presented in conferences
National: 02
International: 03
International: 03
Professional memberships
The British Society for Genetic Medicine, UK
Grants fetched
—
Core competency area
Pharmacy, Pharmacology, Human Molecular Genetics
Other information
- Best Poster Award : Royal Society of Chemistry, UK
- N. M. Wadia Scholarship, Mumbai : Academic year 2004-2005 and 2005-2006
- Prof. G. G. Bahaley Gold Medal, Anuradha College of Pharmacy, Chikhli : Academic year 2003-2004
Publications Details:
1. Akbar A, Bint-E-Farrakh M, Crosby AH, Gul A, Harlalka GV. Variants in NIPAL4
and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
Congenit Anom (Kyoto). 2019 Dec 27. doi: 10.1111/cga.12366. [Epub ahead of print]
PubMed PMID: 31883158.
2. Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, Gul A. Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. BMC Med Genet. 2019 Dec 18;20(1):199. doi: 10.1186/s12881-019-0907-7. PubMed PMID: 31852446; PubMed Central PMCID: PMC6921424.
3. Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL. MNS1 variant associated with situs inversus and male infertility. Eur J Hum Genet. 2020 Jan;28(1):50-55. doi: 10.1038/s41431-019-0489-z. Epub 2019 Sep 18. PubMed PMID: 31534215; PubMed Central PMCID: PMC6906318.
4. Akbar A, Prince C, Payne C, Fasham J, Ahmad W, Baple EL, Crosby AH, Harlalka GV, Gul A. Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families. BMC Med Genet. 2019 Aug 23;20(1):145. doi: 10.1186/s12881-019-0872-1. PubMed PMID: 31443639; PubMed Central PMCID: PMC6708247.
5. Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. PubMed PMID: 31192531; PubMed Central PMCID: PMC6772143.
6. Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, Crosby AH, Baple EL, Gul A. BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. Ann Hum Genet. 2019 Nov;83(6):477-482. doi: 10.1111/ahg.12336. Epub 2019 Jun 7. PubMed PMID: 31173343.
7. Shakil M, Harlalka GV, Ali S, Lin S, D’Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, Baple EL, Crosby AH, Mahmood S. Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye (Lond). 2019 Aug;33(8):1339-1346. doi: 10.1038/s41433-019-0436-9. Epub 2019 Apr 17. PubMed PMID: 30996339.
8. Alakbarzade V, Iype T, Chioza BA, Singh R, Harlalka GV, Hardy H, Sreekantan-Nair A, Proukakis C, Peall K, Clark LN, Caswell R, Lango Allen H, Wakeling M, Chilton JK, Baple EL, Louis ED, Warner TT, Crosby AH. Copy number variation of LINGO1 in familial dystonic tremor. Neurol Genet. 2019 Feb 4;5(1):e307. doi: 10.1212/NXG.0000000000000307. eCollection 2019 Feb. PubMed PMID: 30842974; PubMed Central PMCID: PMC6384021.
9. Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL. An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8. PubMed PMID: 30622327; PubMed Central PMCID: PMC6420058.
10. Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. BMC Med Genet. 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6. PubMed PMID: 30200890; PubMed Central PMCID: PMC6131798.
11. Li L, Jiao X, D’Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PubMed PMID: 30157172; PubMed Central PMCID: PMC6133373.
12. Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA. Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x. PubMed PMID: 29458334; PubMed Central PMCID: PMC5819255.
13. Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka GV, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249. PubMed PMID: 29088354; PubMed Central PMCID: PMC5844214.
14. Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. PubMed PMID: 28334956; PubMed Central PMCID: PMC5382943.
15. Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan. PubMed PMID: 28081210; PubMed Central PMCID: PMC5230738.
16. Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. PubMed PMID: 28052917; PubMed Central PMCID: PMC5382949.
17. Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. BMC Med Genet. 2016 Nov 16;17(1):82. PubMed PMID: 27852232; PubMed Central PMCID: PMC5112725.
18. Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. PubMed PMID: 27492651.
19. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. PubMed PMID: 26070982; PubMed Central PMCID: PMC4511861.
20. Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH. Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest. 2014 Jul;124(7):3137-46. doi: 10.1172/JCI74593. Epub 2014 Jun 9. PubMed PMID: 24911150; PubMed Central PMCID: PMC4071375.
21. Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH. Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7. PubMed PMID: 24103911; PubMed Central PMCID: PMC3859217.
22. Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet. 2013 Feb;50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. PubMed PMID: 23243086.
23. Aharoni S, Harlalka GV, Offiah A, Shuper A, Crosby AH, McEntagart M. Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. Am J Med Genet A. 2011 Dec;155A(12):3153-6. doi: 10.1002/ajmg.a.34327. Epub 2011 Nov 7. PubMed PMID: 22065612.
24. Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka GV, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21. PubMed PMID: 20970105; PubMed Central PMCID: PMC2978972.
25. Singh PK, Patil CR, Harlalka GV, Gaud NP. Zinc disc implantation model of urinary bladder calculi and humane endpoints. Lab Anim. 2010 Jul;44(3):226-30. doi: 10.1258/la.2010.009084. Epub 2010 Apr 12. PubMed PMID: 20385652.
26. Harlalka GV, Patil CR, Patil MR. Protective effect of Kalanchoe pinnata pers. (Crassulaceae) on gentamicin-induced nephrotoxicity in rats. Indian J Pharmacol 2007;39:201-5.
2. Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, Gul A. Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. BMC Med Genet. 2019 Dec 18;20(1):199. doi: 10.1186/s12881-019-0907-7. PubMed PMID: 31852446; PubMed Central PMCID: PMC6921424.
3. Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL. MNS1 variant associated with situs inversus and male infertility. Eur J Hum Genet. 2020 Jan;28(1):50-55. doi: 10.1038/s41431-019-0489-z. Epub 2019 Sep 18. PubMed PMID: 31534215; PubMed Central PMCID: PMC6906318.
4. Akbar A, Prince C, Payne C, Fasham J, Ahmad W, Baple EL, Crosby AH, Harlalka GV, Gul A. Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families. BMC Med Genet. 2019 Aug 23;20(1):145. doi: 10.1186/s12881-019-0872-1. PubMed PMID: 31443639; PubMed Central PMCID: PMC6708247.
5. Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. PubMed PMID: 31192531; PubMed Central PMCID: PMC6772143.
6. Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, Crosby AH, Baple EL, Gul A. BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. Ann Hum Genet. 2019 Nov;83(6):477-482. doi: 10.1111/ahg.12336. Epub 2019 Jun 7. PubMed PMID: 31173343.
7. Shakil M, Harlalka GV, Ali S, Lin S, D’Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, Baple EL, Crosby AH, Mahmood S. Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye (Lond). 2019 Aug;33(8):1339-1346. doi: 10.1038/s41433-019-0436-9. Epub 2019 Apr 17. PubMed PMID: 30996339.
8. Alakbarzade V, Iype T, Chioza BA, Singh R, Harlalka GV, Hardy H, Sreekantan-Nair A, Proukakis C, Peall K, Clark LN, Caswell R, Lango Allen H, Wakeling M, Chilton JK, Baple EL, Louis ED, Warner TT, Crosby AH. Copy number variation of LINGO1 in familial dystonic tremor. Neurol Genet. 2019 Feb 4;5(1):e307. doi: 10.1212/NXG.0000000000000307. eCollection 2019 Feb. PubMed PMID: 30842974; PubMed Central PMCID: PMC6384021.
9. Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL. An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8. PubMed PMID: 30622327; PubMed Central PMCID: PMC6420058.
10. Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. BMC Med Genet. 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6. PubMed PMID: 30200890; PubMed Central PMCID: PMC6131798.
11. Li L, Jiao X, D’Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PubMed PMID: 30157172; PubMed Central PMCID: PMC6133373.
12. Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA. Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x. PubMed PMID: 29458334; PubMed Central PMCID: PMC5819255.
13. Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka GV, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249. PubMed PMID: 29088354; PubMed Central PMCID: PMC5844214.
14. Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. PubMed PMID: 28334956; PubMed Central PMCID: PMC5382943.
15. Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan. PubMed PMID: 28081210; PubMed Central PMCID: PMC5230738.
16. Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. PubMed PMID: 28052917; PubMed Central PMCID: PMC5382949.
17. Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. BMC Med Genet. 2016 Nov 16;17(1):82. PubMed PMID: 27852232; PubMed Central PMCID: PMC5112725.
18. Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. PubMed PMID: 27492651.
19. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. PubMed PMID: 26070982; PubMed Central PMCID: PMC4511861.
20. Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH. Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest. 2014 Jul;124(7):3137-46. doi: 10.1172/JCI74593. Epub 2014 Jun 9. PubMed PMID: 24911150; PubMed Central PMCID: PMC4071375.
21. Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH. Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7. PubMed PMID: 24103911; PubMed Central PMCID: PMC3859217.
22. Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet. 2013 Feb;50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. PubMed PMID: 23243086.
23. Aharoni S, Harlalka GV, Offiah A, Shuper A, Crosby AH, McEntagart M. Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. Am J Med Genet A. 2011 Dec;155A(12):3153-6. doi: 10.1002/ajmg.a.34327. Epub 2011 Nov 7. PubMed PMID: 22065612.
24. Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka GV, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21. PubMed PMID: 20970105; PubMed Central PMCID: PMC2978972.
25. Singh PK, Patil CR, Harlalka GV, Gaud NP. Zinc disc implantation model of urinary bladder calculi and humane endpoints. Lab Anim. 2010 Jul;44(3):226-30. doi: 10.1258/la.2010.009084. Epub 2010 Apr 12. PubMed PMID: 20385652.
26. Harlalka GV, Patil CR, Patil MR. Protective effect of Kalanchoe pinnata pers. (Crassulaceae) on gentamicin-induced nephrotoxicity in rats. Indian J Pharmacol 2007;39:201-5.
