G. Harlalka

发表

Mutation of HERC2 causes developmental delay with Angelman-like features

H. Cross, M. Patton, M. Scheffner, 2012, Journal of Medical Genetics.

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

C. Lelliott, B. Yalcin, Jacob O Day, 2022, PLoS genetics.

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

E. Baple, A. Crosby, G. Harlalka, 2018, BMC Medical Genetics.

In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family

E. Baple, A. Crosby, G. Harlalka, 2019, Gene Reports.

Striking phenotypic variability in familial TRPV4‐axonal neuropathy spectrum disorder

A. Offiah, A. Crosby, G. Harlalka, 2011, American journal of medical genetics. Part A.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

K. Steel, N. Ingham, I. Karakikes, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

H. Cross, M. Simpson, M. Patton, 2010, American journal of human genetics.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

E. Behr, H. Cross, M. Patton, 2017, PLoS genetics.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

M. Hurles, H. Cross, R. Maroofian, 2013, Brain : a journal of neurology.

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

H. Cross, M. Patton, A. Taylor, 2014, The Journal of clinical investigation.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

M. Hurles, E. Puffenberger, K. Strauss, 2015, Brain : a journal of neurology.

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

E. Baple, A. Crosby, W. Ahmad, 2019, BMC Medical Genetics.

Copy number variation of LINGO1 in familial dystonic tremor

J. Chilton, T. Iype, E. Louis, 2019, Neurology: Genetics.

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

J. Chilton, R. Blakely, O. Abdul-Rahman, 2017, Brain : a journal of neurology.

Novel Hemizygous Missense Variation in AFF2 Gene Underlies Fragile XE Syndrome

A. Mir, G. Harlalka, M. Ilyas, 2020 .

Zinc disc implantation model of urinary bladder calculi and humane endpoints

G. Harlalka, C. Patil, P. Singh, 2010, Laboratory animals.

Protective effect of Kalanchoe pinnata pers. (Crassulaceae ) on gentamicin-induced nephrotoxicity in rats

G. Harlalka, C. Patil, Mahesh Patil, 2007 .

Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families

E. Baple, S. Ennis, A. Crosby, 2018, Meta Gene.

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

S. Mahmood, E. Baple, A. Crosby, 2019, Eye.

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

D. Baralle, H. Cross, N. S. Thomas, 2022, npj Genomic Medicine.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

J. Lupski, M. Simpson, M. Patton, 2017, Brain : a journal of neurology.

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia

M. Simpson, M. Patton, R. Trembath, 2016, Human mutation.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

M. Weedon, M. McEntagart, A. Crosby, 2016, BMC Medical Genetics.

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families

A. Crosby, A. Gul, G. Harlalka, 2019, Congenital Anomalies.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

J. Lupski, P. Sieving, S. Jhangiani, 2018, PLoS genetics.

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

E. Baple, A. Crosby, W. Ahmad, 2019, BMC Medical Genetics.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

M. Patton, A. Cazenave-Gassiot, M. Wenk, 2017, Brain : a journal of neurology.

MNS1 variant associated with situs inversus and male infertility

H. Cross, E. Baple, A. Crosby, 2019, European Journal of Human Genetics.

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

S. Ellard, E. Baple, A. Crosby, 2019, European Journal of Human Genetics.

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

E. Baple, A. Crosby, W. Ahmad, 2019, Annals of human genetics.

Delineating the expanding phenotype associated with SCAPER gene mutation

Rui Chen, F. Raymond, K. Carss, 2019, American journal of medical genetics. Part A.

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes

G. Zaman, H. Houlden, Xue Zhang, 2023, The journal of gene medicine.

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

E. Baple, A. Crosby, W. Ahmad, 2018, BMC Medical Genetics.

07 Defective mitochondrial mRNA maturation is associated with spastic ataxia

H. Cross, M. Simpson, M. Patton, 2010, Journal of Neurology, Neurosurgery & Psychiatry.