S. Mehta

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Quantifying the contribution of recessive coding variation to developmental disorders

James D Stephenson, Patrick J. Short, Andrew R. Bassett, 2017, Science.

Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles

James D Stephenson, Patrick J. Short, M. Hurles, 2017 .

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

Mutant valosin‐containing protein causes a novel type of frontotemporal dementia

K. Fliessbach, S. Mehta, V. Hans, 2005, Annals of neurology.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

G. Bejerano, S. Mehta, R. Hevner, 2017, Brain : a journal of neurology.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

S. Mehta, S. Sharif, G. Oǧur, 2006, Genetic testing.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Detection of structural mosaicism from targeted and whole-genome sequencing data

Tomas W. Fitzgerald, T. Fitzgerald, M. Hurles, 2016, bioRxiv.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Charles D. Smith, S. Mehta, M. Forman, 2008, American journal of medical genetics. Part A.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis

S. Mehta, F. Rauch, Heeseog Kang, 2022, Bone reports.

S. Mehta, A. Offiah, K. Rosendahl, 2019, American journal of medical genetics. Part A.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome

S. Mehta, S. Bale, V. Kimonis, 2004, Genetics in Medicine.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

S. Mehta, S. Mansour, I. Temple, 2010, European Journal of Human Genetics.

A Primary Prevention Clinical Risk Score Model for Patients With Brugada Syndrome (BRUGADA-RISK).

P. Lambiase, R. Hunter, É. Marijon, 2020, JACC. Clinical electrophysiology.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

S. Mehta, E. Tobias, R. Newbury-Ecob, 2019, European journal of medical genetics.

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

E. Selkirk, I. Simonic, S. Mehta, 2010, American journal of medical genetics. Part A.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

R. Siebert, S. Mehta, T. Eggermann, 2018, Journal of Medical Genetics.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Arg 320 Cys ) causes a paradoxical and 1 striking increase in Aortic TGFB 1 / 2 expression 2 3

Yasmin, S. Mehta, I. Wilkinson, 2016 .

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

C. Hoogenraad, S. Mehta, H. Firth, 2016, Human molecular genetics.

Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier

S. Mehta, H. Markus, Peter Martin, 2017, Neurology: Genetics.

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

A. Pagnamenta, S. Mehta, Jenny C. Taylor, 2022, Journal of Medical Genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

S. Mehta, D. Chitayat, A. Zankl, 2008, Prenatal diagnosis.

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

V. Schramm, S. Mehta, J. Martignetti, 2012, American journal of human genetics.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

A. Pestronk, S. Mehta, V. Kimonis, 2004, Nature Genetics.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

D. Baralle, C. Mercer, S. Mehta, 2016, Journal of Medical Genetics.

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Tomas W. Fitzgerald, D. J. Driscoll, N. Carter, 2009, American journal of human genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Julian R. E. Davis, T. Walsh, M. King, 2013, American journal of human genetics.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Perrault syndrome: further evidence for genetic heterogeneity

Julian R. E. Davis, A. Green, W. Reardon, 2012, Journal of Neurology.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy

S. Mehta, V. Kimonis, S. Mumm, 2006, American journal of medical genetics. Part A.

The spectrum of 4q- syndrome illustrated by a case series.

I. Simonic, S. Mehta, E. Strehle, 2012, Gene.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Robert W. Taylor, I. Simonic, S. Mehta, 2014, Biochimica et biophysica acta.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

A. V. Vulto-van Silfhout, S. Mehta, Yiping Shen, 2023, Science advances.

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

S. Mehta, A. Rötig, C. Bönnemann, 2022, HGG advances.

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

S. Mehta, Chengfeng Zhao, V. Kimonis, 2005, Human Genetics.

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)

Charles D. Smith, S. Mehta, M. Hutton, 2007, Genetics in Medicine.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in Aortic TGFB1/2 expression

Yasmin, S. Mehta, I. Wilkinson, 2016, European Journal of Human Genetics.

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

S. Mehta, L. Hocking, S. Ralston, 2006, Bone.

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

Non‐mosaic trisomy 22: a report of 2 cases

S. Mehta, S. Sharif, Audrey Smith, 2006, Prenatal diagnosis.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Sri V. V. Deevi, Courtney E. French, K. Stirrups, 2019, Intensive Care Medicine.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

S. Mehta, A. Debant, E. Seaby, 2016, Journal of Medical Genetics.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.