Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

S. Douzgou · SciRah

Researcher profile · Semantic Scholar

S. Douzgou

Share profile

S. Douzgou — researcher profile on SciRah

h-index: 28
Works: 92
Citations: 2,124

Most-cited papers

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
D. Smedley, Katherine R. Smith, A. Martin, E. Thomas +193 more
2021New England Journal of Medicine179 citations Open access
Semantic Scholar
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
L. Micale, B. Augello, C. Fusco, A. Selicorni +37 more
2011Orphanet Journal of Rare Diseases100 citations Open access
Semantic Scholar
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
M. Reijnders, R. Janowski, M. Alvi, Jay E. Self +49 more
2017Journal of Medical Genetics95 citations Open access
Semantic Scholar
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
D. Beck, Ana Petracovici, Chong-Sheng He, H. Moore +28 more
2020American Journal of Human Genetics88 citations Open access
Semantic Scholar
Pathogenicity and selective constraint on variation near splice sites
J. Lord, G. Gallone, Patrick J. Short, J. McRae +24 more
2018bioRxiv85 citations Open access
Semantic Scholar
PEDIA: prioritization of exome data by image analysis
Tzung-Chien Hsieh, M. Mensah, J. Pantel, D. Aguilar +90 more
2018Genetics in Medicine83 citations Open access
Semantic Scholar
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
D. Wieczorek, W. Newman, T. Wieland, Tea Berulava +38 more
2014American Journal of Human Genetics67 citations Open access
Semantic Scholar
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
R. Taylor, N. Parry, S. Barton, Christopher Campbell +16 more
2017Ophthalmology (Rochester, Minn.)64 citations
Semantic Scholar
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
E. Lenassi, J. Clayton-Smith, S. Douzgou, S. Ramsden +14 more
2019Genetics in Medicine58 citations Open access
Semantic Scholar
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
E. Calpena, Araceli Cuellar, K. Bala, Sigrid M. A. Swagemakers +21 more
2020Genetics in Medicine54 citations Open access
Semantic Scholar
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Arunabha Ghosh, H. Schlecht, L. Heptinstall, J. Bassett +21 more
2017Archives of Disease in Childhood51 citations Open access
Semantic Scholar
A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement
S. Douzgou, M. Rawson, E. Baselga, M. Danielpour +16 more
2021Clinical Genetics50 citations Open access
Semantic Scholar
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
P. Ostrowski, Anna Zachariou, C. Loveday, A. Beleza-Meireles +31 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics49 citations
Semantic Scholar
The clinical presentation caused by truncating CHD8 variants
S. Douzgou, Hui Liang, K. Metcalfe, Suresh Somarathi +9 more
2019Clinical Genetics48 citations
Semantic Scholar
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
Irena Vrecar, J. Innes, E. Jones, H. Kingston +4 more
2017Journal of Pediatric Genetics46 citations Open access
Semantic Scholar
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
M. Reijnders, K. A. Miller, M. Alvi, J. Goos +65 more
2018American Journal of Human Genetics45 citations Open access
Semantic Scholar
Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
M. Srour, V. Caron, Toni S. Pearson, Sarah B. Nielsen +19 more
2016Human Mutation44 citations Open access
Semantic Scholar
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
S. Douzgou, C. Breen, Y. Crow, K. Chandler +4 more
2012Archives of Disease in Childhood44 citations
Semantic Scholar
Clinical and genetic variability in children with partial albinism
P. Campbell, J. Ellingford, N. Parry, T. Fletcher +13 more
2019Scientific Reports42 citations Open access
Semantic Scholar
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
I. Schanze, D. Schanze, C. Bacino, S. Douzgou +2 more
2013European Journal of Medical Genetics42 citations
Semantic Scholar
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach
M. Musleh, G. Hall, I. Lloyd, R. Gillespie +6 more
2016Eye34 citations Open access
Semantic Scholar
FOXI3 pathogenic variants cause one form of craniofacial microsomia
Ke Mao, C. Borel, Muhammad Ansar, Angad Jolly +50 more
2023Nature Communications32 citations Open access
Semantic Scholar
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
O. A. Jiman, R. Taylor, E. Lenassi, Jill Clayton Smith +11 more
2019European Journal of Human Genetics31 citations Open access
Semantic Scholar
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
M. Balasubramanian, A. Dingemans, S. Albaba, R. Richardson +35 more
2021European Journal of Human Genetics30 citations Open access
Semantic Scholar
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
L. Molina-Ramírez, Claire Kyle, J. Ellingford, R. Wright +24 more
2021Journal of Medical Genetics30 citations Open access
Semantic Scholar
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan +24 more
2020Orphanet Journal of Rare Diseases30 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
E. Palmer, M. Pusch, A. Picollo, C. Forwood +95 more
2022Molecular Psychiatry28 citations Open access
Semantic Scholar
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
N. Voisin, R. Schnur, S. Douzgou, S. Hiatt +64 more
2021American Journal of Human Genetics28 citations Open access
Semantic Scholar
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
M. Levy, D. Beck, K. Metcalfe, S. Douzgou +30 more
2021npj Genomic Medicine27 citations Open access
Semantic Scholar
Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth
J. McDermott, N. Hickson, I. Banerjee, P. Murray +4 more
2018Clinical Genetics24 citations Open access
Semantic Scholar
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
M. Paul, A. R. Duncan, C. Genetti, Hong-Ling Pan +42 more
2022American Journal of Human Genetics23 citations Open access
Semantic Scholar
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
Katherine A. Wood, Charlie F. Rowlands, Huw B. Thomas, Steven Woods +5 more
2020bioRxiv22 citations Open access
Semantic Scholar
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
A. Bayat, B. Kerr, S. Douzgou
2017Clinical Dysmorphology22 citations
Semantic Scholar
Silver-Russell Syndrome following in Vitro Fertilization
S. Douzgou, R. Mingarelli, L. Tarani, A. De Crescenzo +1 more
2008Pediatric and Developmental Pathology22 citations
Semantic Scholar
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
S. Douzgou, K. Lehmann, R. Mingarelli, S. Mundlos +1 more
2008American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
M. Iqbal, R. Maroofian, Busranur Cavdarli, F. Riccardi +102 more
2021Genetics in Medicine21 citations Open access
Semantic Scholar
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
C. Nellåker, F. Alkuraya, Gareth Baynam, R. Bernier +48 more
2019Frontiers in Genetics21 citations Open access
Semantic Scholar
DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults.
M. A. Ferris, Amanda M. Smith, S. Heath, E. Duncavage +14 more
2021Blood19 citations Open access
Semantic Scholar
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview
S. Douzgou, R. Mingarelli, B. Dallapiccola
2009Clinical Dysmorphology19 citations
Semantic Scholar
Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism
D. Zuccarello, E. Morini, S. Douzgou, A. Ferlin +4 more
2004Journal of Endocrinological Investigation19 citations
Semantic Scholar
Dysmorphology at a distance: results of a web-based diagnostic service
S. Douzgou, J. Clayton-Smith, S. Gardner, R. Day +2 more
2013European Journal of Human Genetics17 citations Open access
Semantic Scholar
Ophthalmic findings in the Greek isolate of Cohen syndrome
S. Douzgou, John R. Samples, Nelli Georgoudi, Michael B. Petersen
2011American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience
S. Douzgou, Yiannis Pollalis, A. Vozikis, G. Patrinos +1 more
2015Public Health Genomics14 citations
Semantic Scholar
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
S. Douzgou, Janet Dell'Oro, C. Fonseca, A. Rei +10 more
2022European Journal of Human Genetics12 citations Open access
Semantic Scholar
Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island
I. Mavridou, M. Cozar, S. Douzgou, Athina Xaidara +6 more
2014Clinical Genetics12 citations
Semantic Scholar
Generalized pulp stones: report of a case with 6-year follow-up.
Catherine Donta, K. Kavvadia, P. Panopoulos, S. Douzgou
2011International Endodontic Journal12 citations
Semantic Scholar
LGI1 gene mutation screening in sporadic partial epilepsy with auditory features
E. Flex, A. Pizzuti, C. Bonaventura, S. Douzgou +5 more
2005Journal of Neurology12 citations
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
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Federico Raviglione, S. Douzgou, M. Scala, A. Mingarelli +42 more
2021Seizure10 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

J. Clayton-Smith×13
Invite
J. Clayton-Smith — researcher profile on SciRah
S. Banka×11
Invite
S. Banka — researcher profile on SciRah
B. Dallapiccola×7
Invite
B. Dallapiccola — researcher profile on SciRah
B. Kerr×7
Invite
B. Kerr — researcher profile on SciRah

×6

Invite

J. Ellingford — researcher profile on SciRah

Invite

G. Hall — researcher profile on SciRah

Invite

R. Pfundt — researcher profile on SciRah

Invite

S. Ramsden — researcher profile on SciRah

Invite

J. Ashworth — researcher profile on SciRah

Invite

K. Metcalfe — researcher profile on SciRah

Invite

G. Black — researcher profile on SciRah

Invite

K. Chandler — researcher profile on SciRah