User profiles for Zerin Hyder
Zerin HyderManchester University NHS Foundation Trust Verified email at mft.nhs.uk Cited by 568 |
[HTML][HTML] Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective …
Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …
[HTML][HTML] Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset …
Z Hyder, EF Harkness, ER Woodward, NL Bowers… - Cancers, 2020 - mdpi.com
Early age at diagnosis of breast cancer is a known risk factor for hereditary predisposition and
some studies show a high risk of contralateral breast cancer in BRCA1 carriers diagnosed …
some studies show a high risk of contralateral breast cancer in BRCA1 carriers diagnosed …
[HTML][HTML] Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Purpose Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced
into the clinic, but the complexity of the data poses challenges for developing pipelines with …
into the clinic, but the complexity of the data poses challenges for developing pipelines with …
Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
…, R Fruscio, A Rastelli, S Zovato, Z Hyder… - Gynecologic …, 2022 - Elsevier
Background BRCA1 and BRCA2 (BRCA) mutation carriers face a high lifetime risk of
developing ovarian cancer. Oral contraceptives are protective in this population; however, the …
developing ovarian cancer. Oral contraceptives are protective in this population; however, the …
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Only two families have been reported with biallelic TMEM260 variants segregating with structural
heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, …
heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, …
Survival from breast cancer in women with a BRCA2 mutation by treatment
Background The impact of various breast-cancer treatments on patients with a BRCA2
mutation has not been studied. We sought to estimate the impact of bilateral oophorectomy and …
mutation has not been studied. We sought to estimate the impact of bilateral oophorectomy and …
Isolated‐and Beckwith‐Wiedemann syndrome related‐lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals
…, F Kanani, H Carley, RL Jones, Z Hyder… - Clinical …, 2021 - Wiley Online Library
The congenital imprinting disorder, Beckwith‐Wiedemann syndrome (BWS) is associated
with variable clinical features including hemihypertrophy/lateralised overgrowth (LO) and …
with variable clinical features including hemihypertrophy/lateralised overgrowth (LO) and …
[HTML][HTML] ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
Z Hyder, W Van Paesschen, A Sabir… - European Journal of …, 2021 - nature.com
ERBB4 encodes the tyrosine kinase receptor HER4, a critical regulator of normal cell
function and neurodevelopmental processes in the brain. One of the key ligands of HER4 is …
function and neurodevelopmental processes in the brain. One of the key ligands of HER4 is …
Whole genome sequencing for diagnosis of neurological repeat expansion disorders
Background Repeat expansion (RE) disorders affect ~1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome
Z Hyder, V Beale, R O'Connor… - Clinical …, 2017 - journals.lww.com
The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of
ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant …
ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant …