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Saghira Malik Sharif
Saghira Malik Sharif
Leeds Teaching Hospitals
Verified email at nhs.net
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Cited by
Cited by
Year
Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report
H Hamamy, SE Antonarakis, LL Cavalli-Sforza, S Temtamy, G Romeo, ...
Genetics in Medicine 13 (9), 841-847, 2011
4072011
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
UM Smith, M Consugar, LJ Tee, BM McKee, EN Maina, S Whelan, ...
Nature genetics 38 (2), 191-196, 2006
3262006
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
CG Woods, J Cox, K Springell, DJ Hampshire, MD Mohamed, M McKibbin, ...
The American Journal of Human Genetics 78 (5), 889-896, 2006
3072006
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
CG Woods, S Stricker, P Seemann, R Stern, J Cox, E Sherridan, ...
The American Journal of Human Genetics 79 (2), 402-408, 2006
2762006
Human ASPM participates in spindle organisation, spindle orientation and cytokinesis
J Higgins, C Midgley, AM Bergh, SM Bell, JM Askham, E Roberts, ...
BMC cell biology 11, 1-17, 2010
1612010
Meckel–Gruber syndrome: an update on diagnosis, clinical management, and research advances
V Hartill, K Szymanska, SM Sharif, G Wheway, CA Johnson
Frontiers in pediatrics 5, 244, 2017
1552017
A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
JL Meade, EA de Wynter, P Brett, SM Sharif, CG Woods, AF Markham, ...
Blood 107 (9), 3665-3668, 2006
1002006
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
JH Lee, JL Silhavy, JE Lee, L Al-Gazali, S Thomas, EE Davis, SL Bielas, ...
Science 335 (6071), 966-969, 2012
962012
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
NV Morgan, P Gissen, S Sharif, L Baumber, J Sutherland, DA Kelly, ...
Human genetics 111, 456-461, 2002
852002
Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy
CP Diggle, SJS Rizzo, M Popiolek, R Hinttala, JP Schülke, MA Kurian, ...
The American Journal of Human Genetics 98 (4), 735-743, 2016
752016
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
S Zhang, SM Sharif, YC Chen, EM Valente, M Ahmed, E Sheridan, ...
Journal of Medical Genetics 53 (8), 533-535, 2016
472016
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
K Szymanska, I Berry, CV Logan, SRR Cousins, H Lindsay, H Jafri, ...
Cilia 1, 1-8, 2012
472012
Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK
S Ahmed, M Ahmed, SM Sharif, E Sheridan, GR Taylor
Prenatal diagnosis 32 (10), 954-959, 2012
272012
Fine-scale population structure and demographic history of British Pakistanis
E Arciero, SA Dogra, DS Malawsky, M Mezzavilla, T Tsismentzoglou, ...
Nature Communications 12 (1), 7189, 2021
252021
Enhancing inclusion of diverse populations in genomics: A competence framework
SM Sharif, M Blyth, M Ahmed, E Sheridan, R Saltus, J Yu, E Tonkin, M Kirk
Journal of genetic counseling 29 (2), 282-292, 2020
142020
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes
C Loveday, A Garrett, P Law, S Hanks, E Poyastro-Pearson, JW Adlard, ...
Annals of oncology 33 (12), 1318-1327, 2022
92022
Influence of autozygosity on common disease risk across the phenotypic spectrum
DS Malawsky, E van Walree, BM Jacobs, TH Heng, QQ Huang, AH Sabir, ...
Cell 186 (21), 4514-4527. e14, 2023
82023
885 A service evaluation exploring the clinical pathway offered to individuals with dystrophin gene variants identified on array CGH
G Topping, J Tariq, K Pysden, S Sharif, AM Childs
Archives of Disease in Childhood 108 (Suppl 2), A46-A46, 2023
2023
Enhancing inclusion of diverse populations in genomics: A competence framework (vol 29, pg 282, 2020)
SM Sharif, M Blyth, M Ahmed, E Sheridan, R Saltus, J Yu, E Tonkin, M Kirk
JOURNAL OF GENETIC COUNSELING 29 (5), 877-877, 2020
2020
Homozygous NOTCH3 mutation testing in consanguineous families: A counselling & ethical dilemma
T Malik, SM Sharif, M Blyth
JOURNAL OF MEDICAL GENETICS 49, S74-S74, 2012
2012
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