Mushtaq Ahmed

发表

Autonomous decision-making for antenatal screening in Pakistan: views held by women, men and health professionals in a low–middle income country

H. Jafri, Y. Rashid, D. Dong, 2019, European Journal of Human Genetics.

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

D. Bonthron, Z. Molnár, Y. Crow, 2009, American journal of human genetics.

Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

C. Inglehearn, A. Mighell, J. Kirkham, 2009 .

Title: Primary care professionals’ perceptions of using a short family history questionnaire Running header: Usability of a short family history questionnaire Article category: Qualitative research Authors

Shenaz Ahmed, Mushtaq Ahmed, J. Hayward, 2018 .

Primary care professionals' perceptions of using a short family history questionnaire.

Shenaz Ahmed, Mushtaq Ahmed, J. Hayward, 2016, Family practice.

Decision making on antenatal screening results: A comparative Q‐method study of women from two Chinese cities

H. Jafri, Y. Rashid, D. Dong, 2020, Health expectations : an international journal of public participation in health care and health policy.

Willingness to pay for genetic testing for inherited retinal disease

M. Allsop, M. McKibbin, S. Tubeuf, 2014, European Journal of Human Genetics.

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

S. Tomkins, E. Sheridan, S. Joss, 2008, European Journal of Pediatrics.

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease

M. Allsop, M. McKibbin, J. Hewison, 2014, European Journal of Human Genetics.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

D. Bonthron, T. Wieland, T. Strom, 2015, Journal of Medical Genetics.

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

Hussain Jafri, Jennifer Kirkham, Mushtaq Ahmed, 2009, American journal of human genetics.

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

Colin A. Johnson, A. Harada, C. Inglehearn, 2016, American journal of human genetics.

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Eamonn Sheridan, Mushtaq Ahmed, Stella Zhang, 2016, Journal of Medical Genetics.

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

D. Bonthron, C. Fishwick, A. Latos-Bieleńska, 2008, Nature Genetics.

Healthcare professionals’ perceptions of implementing a decision support intervention for cascade screening for beta-thalassemia in Pakistan

H. Jafri, Y. Rashid, Shenaz Ahmed, 2022, European Journal of Human Genetics.

Early-onset Lafora body disease.

S. Scherer, C. Ackerley, Peixiang Wang, 2012, Brain : a journal of neurology.

'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan.

Hussain Jafri, Mushtaq Ahmed, H. Jafri, 2011, Social science & medicine.

Attitudes towards non‐invasive prenatal diagnosis among obstetricians in Pakistan, a developing, Islamic country

G. Mason, H. Jafri, Y. Rashid, 2017, Prenatal diagnosis.

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Colin A. Johnson, K. Prescott, G. Cook, 2016, The Journal of allergy and clinical immunology.

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

H. Jafri, Y. Raashid, K. Ahmed, 2014, Journal of Community Genetics.

Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives

H. Jafri, Y. Rashid, Shenaz Ahmed, 2021, European journal of human genetics : EJHG.

Patient attitudes towards prenatal diagnostic testing for inherited retinal disease

M. Allsop, M. McKibbin, J. Hewison, 2015, Prenatal diagnosis.

Experiences of parents with a child with Down syndrome in Pakistan and their views on termination of pregnancy

H. Jafri, Y. Raashid, L. Bryant, 2012, Journal of Community Genetics.

Enhancing inclusion of diverse populations in genomics: A competence framework

E. Tonkin, M. Blyth, E. Sheridan, 2020, Journal of genetic counseling.

Hoping to Live a “Normal” Life Whilst Living with Unpredictable Health and Fear of Death: Impact of Cystic Fibrosis on Young Adults

Shenaz Ahmed, Mushtaq Ahmed, L. Higham, 2013, Journal of Genetic Counseling.

Pakistani healthcare professionals’ perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC

H. Jafri, Y. Rashid, Shenaz Ahmed, 2023, Journal of Community Genetics.

Interpretations of autonomous decision-making in antenatal genetic screening among women in China, Hong Kong and Pakistan

H. Jafri, Y. Rashid, D. Dong, 2018, European Journal of Human Genetics.