S. Mohammed

发表

A. Lehmann, H. Fassihi, Isabel Garrood, 2018, DNA Repair Disorders.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

B. Lorenz, D. Bonneau, P. Amati‐Bonneau, 2003, Human mutation.

Congenital leptin deficiency is associated with severe early-onset obesity in humans

S. O’Rahilly, N. Wareham, J. Hurst, 1997, Nature.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Wiedemann–Rautenstrauch syndrome: A phenotype analysis

R. Hennekam, M. Tartaglia, B. Wollnik, 2017, American journal of medical genetics. Part A.

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 .

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

M. Roberts, B. Engelen, F. Muntoni, 2013, Neuromuscular Disorders.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis

Kathleen R. Bogart, S. Henley, S. Mohammed, 2022, Rare Disease and Orphan Drugs Journal.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Bethan E. Hoskins, P. Beales, D. Milford, 2017, Journal of the American Society of Nephrology : JASN.

The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population

S. Amiel, P. Carroll, S. Mohammed, 2018, The Journal of clinical endocrinology and metabolism.

N. Brown, A. Hamosh, K. Flanigan, 2016, Brain : a journal of neurology.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

C. López-Otín, R. Hennekam, G. Velasco, 2018, Journal of Medical Genetics.

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.

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

A. Offiah, M. Irving, S. Mohammed, 2010, American journal of medical genetics. Part A.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

S. Mohammed, V. Biancalana, D. Ruddy, 2010, American journal of medical genetics. Part A.

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

P. Byers, E. Duncan, M. Szybowska, 2018, Yearbook of Paediatric Endocrinology.

Monozygotic twins discordant for frontonasal malformation

A. Wilkie, S. Mohammed, S. Wall, 2004, American journal of medical genetics. Part A.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

A. Lehmann, P. Giunti, H. Fassihi, 2016, Proceedings of the National Academy of Sciences.

Interfamilial phenotypic heterogeneity in SMARD1

A. Simonds, A. Manzur, S. Mohammed, 2009, Neuromuscular Disorders.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

D. Cooper, D. Pilz, N. Chuzhanova, 2010, Human Genomics.

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.

P. Norris, I. Frayling, A. Lehmann, 2016, Journal of Investigative Dermatology.

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

W. Reardon, R. Newbury-Ecob, A. Rauch, 2003, Journal of medical genetics.

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

M. Irving, S. Mohammed, P. Kyle, 2014, PeerJ.

Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder

F. Guillemot, S. Mohammed, L. Healy, 2021, Stem cell research.

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

S. Mohammed, Z. Docherty, J. W. Ahn, 2010, Molecular Cytogenetics.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

A. Hoischen, A. Reymond, W. Reardon, 2013, Clinical genetics.

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

Growth charts in Cockayne syndrome type 1 and type 2.

M. Kubota, P. Kang, S. Mohammed, 2020, European journal of medical genetics.

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

V. Plagnol, T. Vulliamy, S. Mohammed, 2015, The Journal of clinical investigation.

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

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

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

Clinical utility gene card for: Vici Syndrome

M. Gautel, S. Mohammed, C. Dionisi-Vici, 2013, European Journal of Human Genetics.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

J. Jankovic, A. Bowcock, K. Bhatia, 2012, Cell reports.

Mutation of the RAD51C gene in a Fanconi anemia–like disorder

Franca Fraternali, Nazneen Rahman, Christopher G Mathew, 2010, Nature Genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

J. Hirschhorn, J. Crolla, G. Mortier, 2011, European Journal of Human Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

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 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

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

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

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

S. Knight, P. Hammond, S. Twigg, 2013, Nature Genetics.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

J. Clayton-Smith, M. Tassabehji, L. Biesecker, 2011, American journal of human genetics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

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.

Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform.

S. Mansour, S. Mohammed, T. Homfray, 2011, European journal of medical genetics.

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

P. Beales, G. Matthijs, S. Mohammed, 2002, Journal of medical genetics.

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

S. Mohammed, C. Ogilvie, G. Pichert, 2011, Journal of Medical Genetics.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

A trisomy 2 fetus with severe neural tube defects and other abnormalities

S. Mohammed, C. Ogilvie, M. Seller, 2004, Clinical dysmorphology.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

E. Bertini, M. Simpson, H. Goebel, 2012, Nature Genetics.

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

Francesco Muntoni, Heinz Jungbluth, Haiyan Zhou, 2016, Science Signaling.

Parental mosaicism in RYR1-related Central Core Disease

P. Fallon, S. Mohammed, S. Marks, 2018, Neuromuscular Disorders.

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.

Mapping of partially overlapping de novo deletions across an autism susceptibility region [AUTS5] in two unrelated individuals affected by developmental delays with communication impairment

E. Bacchelli, G. Baird, J. Lamb, 2009, American journal of medical genetics. Part A.

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.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Christophe Béroud, Nicolas Lévy, Richard Caswell, 2017, Metabolism: clinical and experimental.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

A. Lehmann, M. Kinali, H. Fassihi, 2023, Pediatric neurology.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

P. Byers, E. Duncan, M. Szybowska, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

I. Scheffer, A. Fry, S. Mohammed, 2018, Epilepsy Research.

Clinical expression of Menkes disease in females with normal karyotype

Z. Tümer, T. Jensen, S. Janssens, 2012, Orphanet Journal of Rare Diseases.

Microdeletion 22q11.2, Kousseff syndrome and spina bifida.

S. Mohammed, C. Ogilvie, M. Seller, 2002, Clinical dysmorphology.

Microdeletion 22q11.2, Kousse¡ syndrome and spina bi¢da

S. Mohammed, C. Ogilvie, M. Seller, 2002 .

Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

Bethan E. Hoskins, B. Hoskins, S. Mohammed, 2014, Clinical genetics.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

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.

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

S. Seal, B. Ponder, R. Eeles, 1994, Journal of medical genetics.

Recessive MYH7-related myopathy in two families

G. Ravenscroft, C. Ottenheijm, N. Laing, 2019, Neuromuscular Disorders.

A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome

J. Clayton-Smith, M. Tassabehji, S. Mansour, 2008, Clinical genetics.

Autopsy findings in EPG5‐related Vici syndrome with antenatal onset

R. Touraine, A. Laquérriere, M. Gautel, 2017, American journal of medical genetics. Part A.

Large-scale discovery of novel genetic causes of developmental disorders

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

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

F. Muntoni, Haiyan Zhou, M. Brink, 2016, Science Signaling.

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

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.

Advances in Genetic Testing for Hereditary Cancer Syndromes.

E. Thomas, S. Mohammed, 2016, Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer.