S. Douzgou

发表

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

A case of diencephalic syndrome presenting with isolated lipodystrophy.

Julie Harris, S. Douzgou, R. Semple, 2018, Clinical dysmorphology.

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

Rachel L. Taylor, E. Lenassi, S. Douzgou, 2019, European Journal of Human Genetics.

Ophthalmic findings in the Greek isolate of Cohen syndrome

S. Douzgou, M. Petersen, J. Samples, 2011, American journal of medical genetics. Part A.

Clinical variability of genetic isolates of Cohen syndrome

S. Douzgou, M. Petersen, Mb Petersen, 2011, Clinical genetics.

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.

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Dysmorphology services: a snapshot of current practices and a vision for the future

J. Clayton-Smith, S. Douzgou, S. Kitsiou-Tzeli, 2016, Clinical genetics.

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

J. Clayton-Smith, A. Nordgren, B. Dallapiccola, 2020, Orphanet Journal of Rare Diseases.

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

W. Newman, R. O’Keefe, S. Douzgou, 2020, bioRxiv.

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.

The clinical presentation caused by truncating CHD8 variants

S. Holder, S. McKee, S. Banka, 2019, Clinical genetics.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Rachel L. Taylor, J. Clayton-Smith, G. Hall, 2019, Genetics in Medicine.

Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism

S. Douzgou, G. Houge, S. Berland, 2021, American journal of medical genetics. Part A.

Dysmorphology at a distance: results of a web-based diagnostic service

J. Clayton-Smith, S. Douzgou, R. Day, 2014, European Journal of Human Genetics.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

I. C. Lloyd, J. Clayton-Smith, G. Hall, 2016, Eye.

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

Rachel L. Taylor, I. C. Lloyd, G. Hall, 2022, Orphanet Journal of Rare Diseases.

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

Z. Tümer, N. Moschonas, S. Douzgou, 2011, American journal of medical genetics. Part A.

Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island

S. Douzgou, D. Grinberg, L. Vilageliu, 2014, Clinical genetics.

Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth

J. Clayton-Smith, S. Douzgou, K. Metcalfe, 2018, Clinical genetics.

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

K. Papanikolaou, Z. Tümer, K. Anagnostopoulou, 2015, Cytogenetic and Genome Research.

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

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

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Georgina Hall, Christopher Campbell, Rachel L. Taylor, 2017, Ophthalmology.

Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism

B. Dallapiccola, A. Pizzuti, S. Douzgou, 2004, Journal of endocrinological investigation.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia.

S. Douzgou, K. Chandler, J. Bassett, 2016, European journal of medical 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.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

A. Reymond, G. Scarano, O. Gabrielli, 2011, Orphanet journal of rare diseases.

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

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

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

R. Maroofian, H. Houlden, D. Duman, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies

J. Clayton-Smith, Y. Crow, B. Kerr, 2012, Archives of Disease in Childhood.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

P. Grant, N. Brunetti‐Pierri, D. Calame, 2022, American journal of human genetics.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

R. Pfundt, W. Chung, S. Küry, 2021, European Journal of Human Genetics.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Sofia Douzgou, Jill Clayton-Smith, W. Reardon, 2017, Journal of Pediatric Genetics.

Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome

K. Prescott, W. Newman, R. O’Keefe, 2021, Clinical genetics.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant

S. Douzgou, G. Houge, S. Berland, 2021, Cold Spring Harbor molecular case studies.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, npj Genomic Medicine.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, NPJ genomic medicine.

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

W. Lattanzi, S. Twigg, A. Wilkie, 2020, Genetics in Medicine.

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

R. Hennekam, D. Lacombe, S. Douzgou, 2022, European Journal of Human Genetics.

Severe constipation in a patient with Myhre syndrome: a case report

B. Kerr, S. Douzgou, J. Bassett, 2016, Clinical dysmorphology.

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

S. Bhaskar, S. Banka, S. Douzgou, 2017, Archives of Disease in Childhood.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience

J. Clayton-Smith, G. Patrinos, S. Douzgou, 2015, Public Health Genomics.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Journal of Medical Genetics.

Clinical and genetic variability in children with partial albinism

Katherine R. Smith, J. Clayton-Smith, G. Hall, 2019, Scientific Reports.

Silver-Russell Syndrome following in Vitro Fertilization

S. Douzgou, R. Mingarelli, A. Riccio, 2008, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

S. Leal, R. Stevenson, G. B. Schaefer, 2019, bioRxiv.

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

B. Dallapiccola, S. Douzgou, R. Mingarelli, 2009, Clinical dysmorphology.

A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement

J. Clayton-Smith, L. Biesecker, J. Graham, 2021, Clinical genetics.

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

B. Dallapiccola, S. Douzgou, F. Encha-Razavi, 2007, American journal of medical genetics. Part A.

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

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

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

J. Clayton-Smith, S. Douzgou, A. Roberts, 2020, European journal of medical genetics.

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Denny Schanze, Sofia Douzgou, Martin Zenker, 2013, European journal of medical genetics.

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 evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

A. Bayat, B. Kerr, S. Douzgou, 2017, Clinical dysmorphology.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

S. Leal, R. Stevenson, G. B. Schaefer, 2020, American journal of human genetics.

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

Rachel L. Taylor, E. Lenassi, S. Douzgou, 2019, European Journal of Human Genetics.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

S. Mundlos, B. Dallapiccola, S. Douzgou, 2008, American journal of medical genetics. Part A.

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

P. Striano, R. Møller, E. Gardella, 2021, Seizure.

Severe intellectual disability in a patient with Burn-McKeown syndrome.

W. Newman, S. Douzgou, J. Urquhart, 2017, Clinical dysmorphology.

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

N. Brunetti‐Pierri, S. Douzgou, B. Franco, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

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

D. Baralle, S. Mansour, S. Douzgou, 2022, Human mutation.

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.

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome

J. Clayton-Smith, S. Douzgou, H. Schlecht, 2017, American journal of medical genetics. Part A.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

D. Baralle, S. Mansour, K. Lachlan, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: a longitudinal open label trial.

A. Pizzuti, S. Douzgou, P. Curatolo, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features

M. Manfredi, B. Dallapiccola, A. Pizzuti, 2005, Journal of Neurology.

DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults.

T. Ley, M. Oberley, S. Heath, 2021, Blood.

MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.

S. Douzgou, G. Houge, E. Bratland, 2023, Clinical dysmorphology.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature

S. Douzgou, J. Urquhart, Florence Riccardi, 2019, Clinical dysmorphology.

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.

Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.

S. Douzgou, Z. Hyder, Adele Fairclough, 2019, Clinical dysmorphology.

Generalized pulp stones: report of a case with 6-year follow-up.

S. Douzgou, C. Donta, P. Panopoulos, 2011, International endodontic journal.