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A Novel Hemizygous Variant in the AFF2 Gene Causing Fragile XE (FRAXE) Syndrome: First Report from Pakistan.
Published in:
Pakistan Journal of Medical Research, 2021, v. 60, n. 2, p. 85
By:
- Ahmed, Iftikhar;
- Ilyas, Muhammad;
- Harlalka, Gaurav V.;
- Mir, Asif
Publication type:
Article
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Published in:
2017
By:
- Ahmed, Mustafa Y.;
- Al-Khayat, Aisha;
- Al-Murshedi, Fathiya;
- Al-Futaisi, Amna;
- Chioza, Barry A.;
- Fernandez-Murray, J. Pedro;
- Self, Jay E.;
- Salter, Claire G.;
- Harlalka, Gaurav V.;
- Rawlins, Lettie E.;
- Al-Zuhaibi, Sana;
- Al-Azri, Faisal;
- Al-Rashdi, Fatma;
- Cazenave-Gassiot, Amaury;
- Wenk, Markus R.;
- Al-Salmi, Fatema;
- Patton, Michael A.;
- Silver, David L.;
- Baple, Emma L.;
- McMaster, Christopher R.
Publication type:
journal article
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Published in:
2015
By:
- Jinks, Robert N.;
- Puffenberger, Erik G.;
- Baple, Emma;
- Harding, Brian;
- Crino, Peter;
- Fogo, Agnes B.;
- Wenger, Olivia;
- Baozhong Xin;
- Koehler, Alanna E.;
- McGlincy, Madeleine H.;
- Provencher, Margaret M.;
- Smith, Jeffrey D.;
- Tran, Linh;
- Turki, Saeed Al;
- Chioza, Barry A.;
- Cross, Harold;
- Harlalka, Gaurav V.;
- Hurles, Matthew E.;
- Maroofan, Reza;
- Heaps, Adam D.
Publication type:
journal article
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3137, doi. 10.1172/JCI74593
By:
- Baple, Emma L.;
- Chambers, Helen;
- Cross, Harold E.;
- Fawcett, Heather;
- Nakazawa, Yuka;
- Chioza, Barry A.;
- Harlalka, Gaurav V.;
- Mansour, Sahar;
- Sreekantan-Nair, Ajith;
- Patton, Michael A.;
- Muggenthaler, Martina;
- Rich, Phillip;
- Wagner, Karin;
- Coblentz, Roselyn;
- Stein, Constance K.;
- Last, James I.;
- Taylor, A. Malcolm R.;
- Jackson, Andrew P.;
- Ogi, Tomoo;
- Lehmann, Alan R.
Publication type:
Article
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 498, doi. 10.1002/ajmg.a.62545
By:
- Khan, Kamal;
- Mehmood, Sarmad;
- Liu, Chunyu;
- Siddiqui, Maimoona;
- Ahmad, Arsalan;
- Faiz, Belqees Yawar;
- Chioza, Barry A.;
- Baple, Emma A.;
- Ullah, Muhammad I.;
- Akram, Zaineb;
- Satti, Humayoon S.;
- Khan, Raees;
- Harlalka, Gaurav V.;
- Jameel, Muhammad;
- Akram, Talia;
- Baig, Shahid M.;
- Crosby, Andrew H.;
- Hassan, Muhammad J.;
- Zhang, Feng;
- Davis, Erica E.
Publication type:
Article
Delineating the expanding phenotype associated with SCAPER gene mutation.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
By:
- Fasham, James;
- Arno, Gavin;
- Lin, Siying;
- Xu, Mingchu;
- Carss, Keren J.;
- Hull, Sarah;
- Lane, Amelia;
- Robson, Anthony G.;
- Wenger, Olivia;
- Self, Jay E.;
- Harlalka, Gaurav V.;
- Salter, Claire G.;
- Schema, Lynn;
- Moss, Timothy J.;
- Cheetham, Michael E.;
- Moore, Anthony T.;
- Raymond, F. Lucy;
- Chen, Rui;
- Baple, Emma L.;
- Webster, Andrew R.
Publication type:
Article
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0678-6
By:
- Lin, Siying;
- Harlalka, Gaurav V.;
- Hameed, Abdul;
- Reham, Hadia Moattar;
- Yasin, Muhammad;
- Muhammad, Noor;
- Khan, Saadullah;
- Baple, Emma L.;
- Crosby, Andrew H.;
- Saleha, Shamim
Publication type:
Article
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0343-x
By:
- Aharoni, Sharon;
- Barwick, Katy E. S.;
- Straussberg, Rachel;
- Harlalka, Gaurav V.;
- Nevo, Yoram;
- Chioza, Barry A.;
- McEntagart, Meriel M.;
- Mimouni-Bloch, Aviva;
- Weedon, Michael;
- Crosby, Andrew H.
Publication type:
Article
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Published in:
PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007504
By:
- Li, Lin;
- Jiao, Xiaodong;
- D’Atri, Ilaria;
- Ono, Fumihito;
- Nelson, Ralph;
- Chan, Chi-Chao;
- Nakaya, Naoki;
- Ma, Zhiwei;
- Ma, Yan;
- Cai, Xiaoying;
- Zhang, Longhua;
- Lin, Siying;
- Hameed, Abdul;
- Chioza, Barry A.;
- Hardy, Holly;
- Arno, Gavin;
- Hull, Sarah;
- Khan, Muhammad Imran;
- Fasham, James;
- Harlalka, Gaurav V.
Publication type:
Article
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00275-9
By:
- Lin, Siying;
- Sanchez-Bretaño, Aida;
- Leslie, Joseph S.;
- Williams, Katie B.;
- Lee, Helena;
- Thomas, N. Simon;
- Callaway, Jonathan;
- Deline, James;
- Ratnayaka, J. Arjuna;
- Baralle, Diana;
- Schmitt, Melanie A.;
- Norman, Chelsea S.;
- Hammond, Sheri;
- Harlalka, Gaurav V.;
- Ennis, Sarah;
- Cross, Harold E.;
- Wenger, Olivia;
- Crosby, Andrew H.;
- Baple, Emma L.;
- Self, Jay E.
Publication type:
Article
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12881-019-0907-7
By:
- Khan, Shazia;
- Rawlins, Lettie E.;
- Harlalka, Gaurav V.;
- Umair, Muhammad;
- Ullah, Asmat;
- Shahzad, Shaheen;
- Javed, Muhammad;
- Baple, Emma L.;
- Crosby, Andrew H.;
- Ahmad, Wasim;
- Gul, Asma
Publication type:
Article
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0872-1
By:
- Akbar, Abida;
- Prince, Claire;
- Payne, Chloe;
- Fasham, James;
- Ahmad, Wasim;
- Baple, Emma L.;
- Crosby, Andrew H.;
- Harlalka, Gaurav V.;
- Gul, Asma
Publication type:
Article
Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
Published in:
Congenital Anomalies, 2020, v. 60, n. 5, p. 149, doi. 10.1111/cga.12366
By:
- Akbar, Abida;
- Bint‐e‐Farrakh, Muneeba;
- Crosby, Andrew H.;
- Gul, Asma;
- Harlalka, Gaurav V.
Publication type:
Article
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Published in:
2013
By:
- Harlalka, Gaurav V;
- Lehman, Anna;
- Chioza, Barry;
- Baple, Emma L;
- Maroofian, Reza;
- Cross, Harold;
- Sreekantan-Nair, Ajith;
- Priestman, David A;
- Al-Turki, Saeed;
- McEntagart, Meriel E;
- Proukakis, Christos;
- Royle, Louise;
- Kozak, Radoslaw P;
- Bastaki, Laila;
- Patton, Michael;
- Wagner, Karin;
- Coblentz, Roselyn;
- Price, Joy;
- Mezei, Michelle;
- Schlade-Bartusiak, Kamilla
Publication type:
journal article
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 6, p. 477, doi. 10.1111/ahg.12336
By:
- Khan, Shazia;
- Lin, Siying;
- Harlalka, Gaurav V.;
- Ullah, Asmat;
- Shah, Khadim;
- Khalid, Sumbul;
- Mehmood, Sarmad;
- Hassan, Muhammad Jawad;
- Ahmad, Wasim;
- Self, Jay E.;
- Crosby, Andrew H.;
- Baple, Emma L.;
- Gul, Asma
Publication type:
Article
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Published in:
Human Mutation, 2016, v. 37, n. 11, p. 1157, doi. 10.1002/humu.23060
By:
- Harlalka, Gaurav V.;
- McEntagart, Meriel E.;
- Gupta, Neerja;
- Skrzypiec, Anna E.;
- Mucha, Mariusz W.;
- Chioza, Barry A.;
- Simpson, Michael A.;
- Sreekantan‐Nair, Ajith;
- Pereira, Anthony;
- Günther, Sven;
- Jahic, Amir;
- Modarres, Hamid;
- Moore‐Barton, Heather;
- Trembath, Richard C.;
- Kabra, Madhulika;
- Baple, Emma L.;
- Thakur, Seema;
- Patton, Michael A.;
- Beetz, Christian;
- Pawlak, Robert
Publication type:
Article
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Published in:
PLoS Genetics, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pgen.1010114
By:
- Rawlins, Lettie E.;
- Almousa, Hashem;
- Khan, Shazia;
- Collins, Stephan C.;
- Milev, Miroslav P.;
- Leslie, Joseph;
- Saint-Dic, Djenann;
- Khan, Valeed;
- Hincapie, Ana Maria;
- Day, Jacob O.;
- McGavin, Lucy;
- Rowley, Christine;
- Harlalka, Gaurav V.;
- Vancollie, Valerie E.;
- Ahmad, Wasim;
- Lelliott, Christopher J.;
- Gul, Asma;
- Yalcin, Binnaz;
- Crosby, Andrew H.;
- Sacher, Michael
Publication type:
Article
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Published in:
PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006470
By:
- Muggenthaler, Martina M. A.;
- Harlalka, Gaurav V.;
- Baple, Emma L.;
- Crosby, Andrew H.;
- Chioza, Barry A.;
- Patton, Michael A.;
- Blakley, Brian;
- Jackson, Mike;
- Lees, Melissa;
- Dolinsky, Vernon;
- Cross, Leroy;
- Salter, Claire;
- Alkuraya, Fowzan S.;
- Chowdhury, Biswajit;
- Hasan, S. Naimul;
- Triggs-Raine, Barbara;
- Cross, Harold E.;
- Mark, Brian;
- Ishida, Miho;
- Stanier, Philip
Publication type:
Article

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