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Dr Gaurav Harlalka

Associate Research Fellow

01392408283

RILD Building 04.14

Qualifications

PhD (Human Molecular Genetics)

Research

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, et al (2015). Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain Abstract.  Full text.
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, et al (2014). Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest, 124(7), 3137-3146. Abstract.  Author URL.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, et al (2013). Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet, 50(2), 65-73. Abstract.  Author URL.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross HE, Sreekantan-Nair A, Priestman C, Royle L, Kozak RP, et al (2013). Mutations in B4GALNT1 (GM2 Synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(12), 3618-3624. Abstract.  Author URL.
Aharoni S, Harlalka G, Offiah A, Shuper A, Crosby AH, Mcentagart M (2011). Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. American Journal of Medical Genetics, Part A, 155(12), 3153-3156. Author URL.
Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, et al (2010). Defective mitochondrial mRNA maturation is associated with spastic ataxia. American Journal Human Genetics, 87(5), 655-660. Abstract.  Author URL.
Singh PK, Patil CR, Harlalka GV, Gaud NP (2010). Zinc disc implantation model of urinary bladder calculi and humane endpoints. Lab Anim, 44(3), 226-230. Abstract.  Author URL.
Harlalka GV, Patil CR, Patil MR (2007). Protective effect of Kalanchoe pinnata pers. (Crassulaceae) on gentamicin-induced nephrotoxicity in rats. Indian Journal of Pharmacology, 39(4), 201-205. Abstract.  Author URL.

Chapters

Patel H, Harlalka G, Crosby A (2011). Troyer Syndrome. In Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (Eds.) GeneReviews, Seattle (WA): University of Washington, Seattle; 1993-2014.:.

Publications by year


2015

Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, et al (2015). Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain Abstract.  Full text.

2014

Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, et al (2014). Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest, 124(7), 3137-3146. Abstract.  Author URL.

2013

Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, et al (2013). Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet, 50(2), 65-73. Abstract.  Author URL.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross HE, Sreekantan-Nair A, Priestman C, Royle L, Kozak RP, et al (2013). Mutations in B4GALNT1 (GM2 Synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(12), 3618-3624. Abstract.  Author URL.

2011

Aharoni S, Harlalka G, Offiah A, Shuper A, Crosby AH, Mcentagart M (2011). Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. American Journal of Medical Genetics, Part A, 155(12), 3153-3156. Author URL.
Patel H, Harlalka G, Crosby A (2011). Troyer Syndrome. In Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (Eds.) GeneReviews, Seattle (WA): University of Washington, Seattle; 1993-2014.:.

2010

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, et al (2010). Defective mitochondrial mRNA maturation is associated with spastic ataxia. American Journal Human Genetics, 87(5), 655-660. Abstract.  Author URL.
Singh PK, Patil CR, Harlalka GV, Gaud NP (2010). Zinc disc implantation model of urinary bladder calculi and humane endpoints. Lab Anim, 44(3), 226-230. Abstract.  Author URL.

2007

Harlalka GV, Patil CR, Patil MR (2007). Protective effect of Kalanchoe pinnata pers. (Crassulaceae) on gentamicin-induced nephrotoxicity in rats. Indian Journal of Pharmacology, 39(4), 201-205. Abstract.  Author URL.

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