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Tazeen Ashraf

Clinical and genetic aspects of KBG syndrome
2016 · Karen Low, Tazeen Ashraf, et al. · American Journal of Medical Genetics Part A · 132
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
2019 · Alistair T. Pagnamenta, Pamela J. Kaisaki, et al. · Clinical Genetics · 68
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Medical and legal confusion surrounding gamma-hydroxybutyrate (GHB) and its precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4BD)
2007 · D.M. Wood, C. Warren-Gash, et al. · QJM · 68
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The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
2019 · Alison Foster, Anna Zachariou, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 56
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
2022 · Elke de Boer, Charlotte W. Ockeloen, et al. · Genetics in Medicine · 28
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Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition
2015 · Tazeen Ashraf, Morag N. Collinson, et al. · American Journal of Medical Genetics Part A · 28
Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL 4 and USB 1 (C16orf57) gene
2016 · Aude‐Annick Suter, Peter Itin, et al. · Molecular Genetics & Genomic Medicine · 21
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What evidence is there that the UK should tackle the potential emerging threat of methamphetamine toxicity rather than established recreational drugs such as MDMA ('ecstasy')?
2008 · D.M. Wood, J. Button, et al. · QJM · 16
PUF60 ‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
2023 · H. Grimes, M. Ansari, et al. · American Journal of Medical Genetics Part A · 15
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
2024 · Daniel G. Calame, Jovi Huixin Wong, et al. · Genetics in Medicine · 14
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Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications
2025 · Yang Pei, Eduardo Calpena, et al. · Genome Medicine · 5
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
2023 · Elke de Boer, Charlotte W. Ockeloen, et al. · Genetics in Medicine · 5
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Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome
2020 · Tazeen Ashraf, Camelia Vaina, et al. · American Journal of Medical Genetics Part A · 5
A Triad: Cardiac Rhabdomyosarcoma, Stroke and Tamponade
2012 · Tazeen Ashraf, Thomas George Day, et al. · Pediatric Cardiology · 4
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
2024 · Daniel G. Calame, Jovi Huixin Wong, et al. · medRxiv · 3
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Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period
2023 · Natalie Jane Chandler, Vijaya Ramachandran, et al. · Prenatal Diagnosis · 3
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Ear lobe creases: A novel phenotypic feature in KBG syndrome
2022 · Tazeen Ashraf, Mike Harrison, et al. · American Journal of Medical Genetics Part A · 2
The Emerging Ophthalmic Phenotype of XXYY Syndrome
2016 · Tazeen Ashraf, Ahmed Shalaby · Journal of Clinical & Experimental Ophthalmology · 2
Genomic testing in neonates
2024 · Jessica Salkind, Alison Mintoft, et al. · Archives of Disease in Childhood Education & Practice · 1
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The evolving genetic etiology of conotruncal anomalies
2024 · Adalina Sacco, Ronel Talker, et al. · Prenatal Diagnosis · 1
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A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2‐related congenital adrenal hyperplasia
2023 · Clare Willison, Vijaya Ramachandran, et al. · Prenatal Diagnosis · 1
Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?
2026 · A. Gibbs, R. Braham, et al. · Prenatal Diagnosis
Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF ‐β Signaling via Gain‐of‐Function Variants in SMAD4
2025 · Kawmadi Gunawardena, Alessandro De Falco, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics
Contractures of the Hands As a Prenatal Phenotype of CACNA1A‐Related Disorder
2025 · Lara Menzies, Alexander Gibbs, et al. · Prenatal Diagnosis
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Additional file 1 of Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications
2025 · Pei, Yang, Calpena, Eduardo, et al. · Figshare
Works count: 26
Citation count: 478
H-index: 10
I10-index: 10
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