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A. Saggar · SciRah

Researcher profile · Semantic Scholar

A. Saggar

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A. Saggar — researcher profile on SciRah

h-index: 24
Works: 55
Citations: 4,525

Most-cited papers

Large-scale discovery of novel genetic causes of developmental disorders
T. Fitzgerald, SS Gerety, WD Jones, M. van Kogelenberg +261 more
2014Nature1,070 citations Open access
Semantic Scholar
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
J. Rivière, G. Mirzaa, B. O'Roak, Margaret Beddaoui +36 more
2012Nature Genetics695 citations Open access
Semantic Scholar
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
I. Slade, C. Bacchelli, H. Davies, Anne Murray +28 more
2011Journal of Medical Genetics344 citations Open access
Semantic Scholar
Mutations in Pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalling
E. Griffith, Sarah A. Walker, Carol-Anne Martin, P. Vagnarelli +9 more
2007Nature Genetics326 citations Open access
Semantic Scholar
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
W. Jones, D. Dafou, Meriel E. Mcentagart, Wesley J. Woollard +8 more
2012American Journal of Human Genetics259 citations Open access
Semantic Scholar
Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis.
D. M. Davies, S. Johnson, A. Tattersfield, J. Kingswood +7 more
2008New England Journal of Medicine218 citations Open access
Semantic Scholar
Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum
V. Matejas, Bernward G. Hinkes, F. Alkandari, L. Al-Gazali +34 more
2010Human Mutation200 citations Open access
Semantic Scholar
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Carol-Anne Martin, I. Ahmad, Anna Klingseisen, M. S. Hussain +34 more
2014Nature Genetics185 citations Open access
Semantic Scholar
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Diana Alcantara, A. Timms, K. Gripp, L. Baker +29 more
2017Brain : a journal of neurology110 citations Open access
Semantic Scholar
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
E. Reinstein, Sophia Frentz, Tim Morgan, S. García-Miñaúr +22 more
2012European Journal of Human Genetics101 citations Open access
Semantic Scholar
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
A. Alazami, R. Shaheen, F. Alzahrani, K. Snape +5 more
2009American Journal of Human Genetics100 citations Open access
Semantic Scholar
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
A. Rio-Machin, T. Vulliamy, N. Hug, A. Walne +54 more
2020Nature Communications91 citations Open access
Semantic Scholar
Ophthalmological aspects of Pierson syndrome.
C. Bredrup, V. Matejas, M. Barrow, K. Bláhová +22 more
2008American journal of ophthalmology-glaucoma77 citations Open access
Semantic Scholar
Zellweger syndrome and secondary mitochondrial myopathy
V. Salpietro, R. Phadke, A. Saggar, I. Hargreaves +7 more
2015European Journal of Pediatrics70 citations
Semantic Scholar
X-linked cataract and Nance-Horan syndrome are allelic disorders
M. Coccia, S. Brooks, Tom R. Webb, K. Christodoulou +14 more
2009Human Molecular Genetics66 citations Open access
Semantic Scholar
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
M. Kharbanda, D. Pilz, S. Tomkins, K. Chandler +10 more
2016European Journal of Medical Genetics64 citations Open access
Semantic Scholar
Role of ADAMTSL4 mutations in FBN1 mutation‐negative ectopia lentis patients
J. Aragon-Martin, D. Ahnood, D. Charteris, A. Saggar +5 more
2010Human Mutation55 citations Open access
Semantic Scholar
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
F. Ceroni, Domingo Aguilera-Garcia, N. Chassaing, D. Bax +27 more
2018Human Genetics51 citations Open access
Semantic Scholar
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
E. Pavlidou, V. Salpietro, R. Phadke, I. Hargreaves +10 more
2016European journal of paediatric neurology51 citations
Semantic Scholar
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis +297 more
2016bioRxiv50 citations Open access
Semantic Scholar
Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome
V. Salpietro, Wei-Chun Lin, Andrea Delle Vedove, M. Storbeck +17 more
2017Annals of Neurology47 citations Open access
Semantic Scholar
Consanguinity and child health
A. Saggar, A. Bittles
200846 citations
Semantic Scholar
Urinary tract effects of HPSE2 mutations.
H. Stuart, N. A. Roberts, E. Hilton, E. Mckenzie +37 more
2015Journal of the American Society of Nephrology37 citations Open access
Semantic Scholar
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome
D. Steel, V. Salpietro, R. Phadke, M. Pitt +7 more
2015Journal Genetika31 citations
Semantic Scholar
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
N. Whittock, L. Izatt, A. Mann, T. Homfray +8 more
2003Journal of Investigative Dermatology22 citations Open access
Semantic Scholar
Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study
A. McGovern, Simon Jones, J. van Vlymen, A. Saggar +2 more
2014BMC Nephrology18 citations Open access
Semantic Scholar
Identification of five novel SPRED1 germline mutations in Legius syndrome
S. Laycock-van Spyk, H. Jim, L. Thomas, G. Spurlock +8 more
2011Clinical Genetics14 citations
Semantic Scholar
Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant
R. Poole, Philippa D. K. Curry, Ruta Marcinkute, C. Brewer +10 more
2021American Journal of Medical Genetics. Part A13 citations Open access
Semantic Scholar
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array
E. Saunders, Tokhir Dadaev, D. Leongamornlert, A. A. Al Olama +496 more
2016British Journal of Cancer13 citations Open access
Semantic Scholar
Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence
E. Dunlop, K. Dodd, S. Land, Peter Davies +11 more
2011European Journal of Human Genetics13 citations Open access
Semantic Scholar
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E. Sheppard, Laura M. Bryant, Rochelle N Wickramasekara, Courtney N Vaccaro +116 more
2023Science Advances11 citations Open access
Semantic Scholar
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Q. Thomas, M. Motta, Thierry Gautier, M. Zaki +59 more
2022American Journal of Human Genetics10 citations Open access
Semantic Scholar
Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis
H. Wai, Matthew J. Constable, C. Drewes, Ian Davies +11 more
2022Human Mutation10 citations Open access
Semantic Scholar
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes
Peter A. Perrino, Lidiya V. Talbot, Rose Kirkland, Amanda Hill +8 more
2020Communications Biology10 citations Open access
Semantic Scholar
Severe Arterial Tortuosity in an Asymptomatic Infant With Coarctation
Ophélie Loup, P. Daubeney, A. Saggar, M. Rubens +2 more
2013Circulation Cardiovascular Imaging9 citations Open access
Semantic Scholar
Ocular Treatment of Children With Stuve–Wiedemann Syndrome
A. Injarie, Aman Narang, Z. Idrees, A. Saggar +1 more
2012Cornea7 citations
Semantic Scholar
Multidisciplinary Surgical Management of Cherubism Complicated by Neurofibromatosis Type 1
N. Hachach-Haram, Paul Gerarchi, Sarah L. Benyon, A. Saggar +2 more
2011The Journal of craniofacial surgery (Print)6 citations
Semantic Scholar
A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections
Y.-B.-A. Wan, M. Simpson, J. Aragon-Martin, D. Osborn +17 more
2017bioRxiv5 citations Open access
Semantic Scholar
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
H. Wai, J. Lord, M. Lyon, A. Gunning +75 more
2020Genetics in Medicine4 citations Open access
Semantic Scholar
Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.
Loucas Christodoulou, Anil Krishnaiah, Christina Spyridou, V. Salpietro +5 more
2015Quantitative Imaging in Medicine and Surgery4 citations
Semantic Scholar
Mutations in SMAD3 in a British cohort of thoracic aortic aneurysm and dissection (TAAD) patients
G. Arno, J. Aragon-Martin, O. Song, N. Kamali +3 more
20124 citations
Semantic Scholar
Ethnicity, equity, and access to genetic services—the UK perspective
P. Mehta, A. Saggar
2005Annals of Human Biology4 citations
Semantic Scholar
An activating calcium sensing receptor mutation associated with normocalcemic (idiopathic) hypercalciuric nephrolithiasis.
P. Christie, A. Curley, B. Harding, M. Bowl +6 more
20024 citations
Semantic Scholar
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome
D. Steel, V. Salpietro, R. Phadke, M. Pitt +7 more
2015Journal Genetika2 citations
Semantic Scholar
Monozygotic twins and cholesteatomas: nature or nuture?
Sabrina Brar, D. Wolf, Morad Faoury, J. Barwell +2 more
2023European Archives of Oto-Rhino-Laryngology1 citations
Semantic Scholar
1 Imaging cardiovascular features of a family with type 4 loeys-dietz syndrome
I. Budaj, Prity Gupta, A. Saggar, C. Nienaber +2 more
2019Abstracts1 citations Open access
Semantic Scholar
A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
E. Pavlidou, Vijaya Ramachandran, Veronica Govender, C. Wilson +6 more
2017Brain & development (Tokyo. 1979)1 citations
Semantic Scholar
Screening of the PRKG1 gene in a British cohort of Thoracic Aortic Aneurysm and Dissection (TAAD) patients
Wan Yba, Aragón Ja, Collins Lj, D.-C. Guo +4 more
20141 citations
Semantic Scholar
Global Health Implications of Inherited Renal Diseases
W. Jones, A. Saggar
20121 citations
Semantic Scholar
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
H. Wai, J. Lord, M. Lyon, A. Gunning +75 more
2020Genetics in Medicine0 citations Open access
Semantic Scholar

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