S. Mansour

S. Mansour, R. Evans, Clara Gibson, 2021, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

G. Yancopoulos, A. Wilkie, S. Mansour, 2000, Nature Genetics.

Rapid identification of mutations in GJC2 in four limb primary lymphoedema using whole exome sequencing combined with linkage analysis

Alexandros, M. Simpson, R. Trembath, 2020 .

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

R. Hennekam, H. Waterham, J. Oosterwijk, 2003, Journal of medical genetics.

Mutations in EPHB4 cause human venous valve aplasia

Alberto Smith, B. Modarai, S. Mansour, 2021, JCI insight.

The male phenotype in osteopathia striata congenita with cranial sclerosis

S. Robertson, R. Nash, M. Porteous, 2011, American journal of medical genetics. Part A.

Hypomorphic PCNA mutation underlies a novel human DNA repair disorder

Ogi, H. Cross, M. Patton, 2014 .

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

H. Cross, M. Patton, A. Taylor, 2014, The Journal of clinical investigation.

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

L. Huber, S. Mansour, H. Uhlig, 2021, Journal of clinical medicine.

A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon

S. Mansour, V. Mcconnell, P. Mortimer, 2018, International journal of molecular sciences.

The Phenotypic Continuum of ATPLA3-Related Disorders.

Alison M. Male, S. Sisodiya, C. Brownstein, 2022, Neurology.

Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature

S. Mansour, B. Thilaganathan, T. Homfray, 2007, Prenatal diagnosis.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

D. Baralle, A. Laquérriere, S. Mansour, 2022, Journal of Medical Genetics.

Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

K. Burnand, S. Mansour, D. Callen, 2001, Human Genetics.

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

K. Burnand, S. Mansour, A. Child, 2002, Journal of medical genetics.

Sustained Interleukin‐6 and Interleukin‐8 Expression Following Infection with Chlamydia trachomatis Serovar L2 in a HeLa/THP‐1 Cell Co‐culture Model

S. Mansour, R. Morisset, M. Ravaoarinoro, 2006, Scandinavian journal of immunology.

Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype

S. Bewley, R. Nash, A. Offiah, 2003, Journal of medical genetics.

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.

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

M. Nolan, B. McColl, Y. Crow, 2020, Acta Neuropathologica.

overlapping phenotype punctata (CDPX2): presentation of two cases with dominant Conradi-Hünermann chondrodysplasia Greenberg dysplasia (HEM) and lethal X linked

S. Bewley, R. Nash, A. Offiah, 2006 .

Rigidity with Multifocal Seizure Syndrome, Lethal Neonatal in a Lebanese Neonate. A Rare Case Report

S. Mansour, H. Jouni, A. Fawaz, 2018, Journal of Pediatric Disorders and Neonatal Care.

An atypical case of hypomethylation at multiple imprinted loci

S. Mansour, E. Baple, I. Temple, 2011, European Journal of Human Genetics.

Extremely large hemangioma of the liver: Safety of the expectant management

S. Mansour, Safi Khuri, M. Andraous, 2019, Archives of Surgery and Clinical Research.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

J. Tolmie, D. Wieczorek, J. Goodship, 2011, European Journal of Human Genetics.

Human venous valve disease caused by mutations in FOXC2 and GJC2

Alberto Smith, B. Modarai, S. Mansour, 2017, The Journal of experimental medicine.

Abnormal Rab11‐Rab8‐vesicles cluster in enterocytes of patients with microvillus inclusion disease

Joseph T. Roland, S. Mansour, A. Janecke, 2017, Traffic.

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review

S. Mansour, S. Drury, T. Homfray, 2020, BJOG : an international journal of obstetrics and gynaecology.

Diagnosis of fetal abnormalities using exome sequencing: translating research into practice

S. Mansour, S. Drury, T. Homfray, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

A. Green, R. Hofstra, S. Mansour, 2020, Human mutation.

Genetic Disorders of the Lymphatic System

S. Mansour, P. Ostergaard, S. Martin-Almedina, 2020 .

FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

S. Mansour, G. Brice, P. Mortimer, 2013, Human mutation.

Interleukin-36α Expression in Vitiligo Skin Lesions and Its Association with Disease Pattern, Activity, and Severity

S. Mansour, M. Atwa, Rasha M Mohamed, 2019, Suez Canal University Medical Journal.

Disorders of Lymphatics

S. Mansour, P. Mortimer, 2011 .

Germline CBL mutation associated with a noonan‐like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

R. Nash, S. Mansour, Meredith Wilson, 2014, American journal of medical genetics. Part A.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases

G. Mufti, T. Vulliamy, R. Keenan, 2010, American journal of medical genetics. Part A.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

B. Korf, E. I. Pierpont, B. Gelb, 2022, American Journal of Medical Genetics. Part A.

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

S. Mansour, G. Brice, R. Nagaraja, 2015, European Journal of Human Genetics.

Mosaic structural variation in children with developmental disorders

Tom R. Gaunt, Hashem A. Shihab, Blair H. Smith, 2015, Human molecular genetics.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Chondrodysplasia punctata: a clinical diagnostic and radiological review

M. Irving, S. Mansour, L. Chitty, 2008, Clinical dysmorphology.

Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature

S. Mansour, P. Mortimer, P. Mortimer, 2007, The British journal of dermatology.

The lymphatic phenotype in Turner Syndrome: an evaluation of nineteen patients and literature review

Sahar Mansour, Glen Brice, S. Mansour, 2015, European Journal of Human Genetics.

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Sahar Mansour, Jean Weissenbach, J. Weissenbach, 1994, Nature.

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

S. Mansour, T. Homfray, G. Brice, 2010, Human Genetics.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

F. Baas, E. Mercuri, F. Muntoni, 2019 .

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Shin Lin, M. Snyder, M. Simpson, 2015, Nature Communications.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Yu Wang, Zhaoshi Jiang, Gregory M. Cooper, 2008, Nature Genetics.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

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.

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).

S. Ellard, S. Mansour, A. Fryer, 2003, The Journal of investigative dermatology.

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.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European 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.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

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.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

S. Kenwrick, H. Woffendin, S. Mansour, 2001, American journal of medical genetics.

A gene for lymphedema-distichiasis maps to 16q24.3.

A. Sigurdsson, M. Stratton, N. Rahman, 1999, American journal of human 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.

Gastric leiomyoma in a child with Gorlin–Goltz syndrome: First pediatric case

S. Mansour, S. Giuliani, C. Virgone, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.

S. Mansour, J. Drenth, P. Mortimer, 2008, Archives of dermatology.

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.

K. Prescott, N. Hauser, S. Mansour, 2020, European journal of medical genetics.

A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE)

S. Mansour, E. Baple, C. Hall, 2018, The Journal of hand surgery, European volume.

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Sahar Mansour, Richard Trembath, Glen Brice, 2011, Journal of Medical Genetics.

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2

K. Burnand, S. Mansour, A. Child, 2008, European Journal of Human Genetics.

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

Alberto Smith, K. Burnand, S. Mansour, 2005, Human Genetics.

Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb

K. Burnand, S. Mansour, D. Callen, 2000, Journal of medical genetics.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

C. Thaller, S. Robertson, R. Hennekam, 2009, Nature Genetics.

Pierpont Syndrome: A Collaborative Study

N. de Leeuw, W. Reardon, K. Devriendt, 2011, American journal of medical genetics. Part A.

Correlation between SOX2 and Mutant IDH1 Protein Expression in Astrocytomas and their Clinicopathologic Significance

Amr A. Kamel, S. Mansour, Muhammad A A Muhammad, 2018 .

Congenital vascular malformations: A series of five prenatally diagnosed cases

S. Mansour, B. Thilaganathan, T. Homfray, 2008, American journal of medical genetics. Part A.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

S. Mansour, P. Ostergaard, S. Martin-Almedina, 2018, The Journal of physiology.

Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly.

S. Mansour, Nikolas Pontikos, G. Arno, 2019, American journal of ophthalmology.

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.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Stephanie E. Vallee, S. Bale, M. Kilby, 2021, Genetics in Medicine.

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

S. Mansour, P. Mortimer, S. Jeffery, 2020, Journal of Medical Genetics.

A new classification system for primary lymphatic dysplasias based on phenotype

S. Mansour, G. Brice, P. Mortimer, 2010, Clinical genetics.

Use of somatostatin analogues to treat chylothorax in a child with Generalised Lymphatic Dysplasia

S. Mansour, M. Brodlie, D. Spencer, 2011, Respiratory medicine case reports.

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Sahar Mansour, Richard C Trembath, Russell Keenan, 2011, Nature Genetics.

Carbimazole embryopathy: An emerging phenotype

F. Elmslie, S. Mansour, N. Foulds, 2005, American journal of medical genetics. Part A.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

A. Pagnamenta, N. Popitsch, Jenny C. Taylor, 2017, European Journal of Human Genetics.

Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage‐gated sodium channel

F. Elmslie, S. Mansour, D. Atherton, 2009, Clinical and experimental dermatology.

Milroy disease and the VEGFR-3 mutation phenotype

K. Burnand, S. Mansour, A. Child, 2005, Journal of Medical Genetics.

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

S. Mansour, C. Hall, A. Haworth, 2021, European journal of medical genetics.

Prenatal diagnosis of non‐immune hydrops fetalis: what do we tell the parents?

A. Papageorghiou, S. Mansour, T. Homfray, 2011, Prenatal diagnosis.

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

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

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

M. Simpson, M. Vikkula, R. Trembath, 2012, American journal of human genetics.

Non‐immune fetal hydrops: etiology and outcome according to gestational age at diagnosis

S. Mansour, A. Khalil, T. Homfray, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas

S. Mansour, G. Brice, P. Mortimer, 2009, Human Genetics.

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas

S. Mansour, G. Brice, P. Mortimer, 2009, Human Genetics.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

J. Clayton-Smith, A. Toutain, S. Mansour, 2009, European Journal of Human Genetics.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

D. Wieczorek, S. Mansour, A. Moore, 2013, European Journal of Human Genetics.

Brachytelephalangic chondrodysplasia punctata in an extremely premature infant.

S. Mansour, I. Young, D. Liberman, 1994, American journal of medical genetics.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

A. Hoischen, Shin Lin, M. Snyder, 2016, The Journal of clinical investigation.

Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

M. Simpson, S. Mansour, G. Brice, 2013, Circulation research.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

Clinicopathological Significance of CD133 and ALDH1 Cancer Stem Cell Marker Expression in Invasive Ductal Breast Carcinoma.

S. Mansour, M. Atwa, 2015, Asian Pacific journal of cancer prevention : APJCP.

Clinicopathological Significance of CD133 and ALDH1 Cancer Stem Cell Marker Expression in Invasive Ductal Breast Carcinoma.

S. Mansour, M. Atwa, 2015, Asian Pacific journal of cancer prevention : APJCP.

Mutations in PIK 3 R 1 Cause SHORT Syndrome

W. Reardon, S. Mansour, K. Boycott, 2013 .

Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition

S. Mansour, B. Madden, R. Nagaraja, 2022, Frontiers in Genetics.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

L. Biesecker, M. Topf, T. Jacques, 2018, The Journal of clinical investigation.

Pit-1 mutation and lipoedema in a family.

S. Mansour, G. Brice, P. Mortimer, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

B. Gelb, I. Yamanaka, S. Riazuddin, 2023, Nature Medicine.

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.

Presentation of childhood lymPhoedema

S. Mansour, G. Brice, P. Mortimer, 2009 .

Three children with Milroy disease and de novo mutations in VEGFR3

S. Mansour, G. Brice, P. Mortimer, 2007, Clinical genetics.

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Robert W. Taylor, S. Mansour, G. Saretzki, 2010, Brain : a journal of neurology.

Bone Research Society, Annual Meeting 2017 Proceedings

P. Tsai, T. Spector, J. Bell, 2018, Journal of musculoskeletal & neuronal interactions.

Postzygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum

S. Mansour, V. Akhras, K. Gordon, 2019, The British journal of dermatology.

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester

A. Papageorghiou, S. Mansour, A. Kulkarni, 2018, European Journal of Human Genetics.

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non‐immune hydrops fetalis

S. Mansour, G. Brice, V. Murday, 2012, Clinical genetics.

A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema

M. Simpson, S. Mansour, G. Brice, 2013 .

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family

S. Mansour, G. Brice, S. Jeffery, 2013, Clinical genetics.

Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation

S. Mansour, L. Sztriha, F. Smith, 2021, Neurology: Genetics.

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

S. Robertson, S. Mansour, R. Newbury-Ecob, 2012, European Journal of Human Genetics.

Prenatal diagnosis in a family with X‐linked hydrocephalus

S. Mansour, R. Elles, D. Gokhale, 2005, Prenatal diagnosis.

Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome

A. Offiah, S. Mansour, C. Hall, 2002, Journal of medical genetics.

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?

S. Mansour, R. Newbury-Ecob, G. Brice, 2011, American journal of medical genetics. Part A.

Lymphedema-Distichiasis Syndrome

S. Mansour, G. Brice, P. Mortimer, 2012, Definitions.

G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review

S. Mansour, V. Keeley, K. Riches, 2013, Archives of Disease in Childhood.

G26 Lymphatic Disorders In Noonan Syndrome

S. Mansour, S. Joyce, 2013, Archives of Disease in Childhood.

The association of primary hyperparathyroidism and primary ovarian failure: a de novo t(X; 2) (q22p13) reciprocal translocation.

S. Nussey, S. Mansour, G. Bano, 2008, European journal of endocrinology.

An approach to familial lymphoedema.

S. Mansour, Gabriela E. Jones, 2017, Clinical medicine.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

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.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants

S. Mansour, G. Arno, K. Mankad, 2020, Clinical genetics.

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

S. Mansour, P. Mortimer, S. Jeffery, 2021, Journal of Medical Genetics.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

TheMalePhenotypeinOsteopathiaStriataCongenita With Cranial Sclerosis

S. Robertson, R. Nash, S. Mansour, 2011 .

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11

G. Holder, S. Mansour, A. Moore, 2016, Acta ophthalmologica.

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.

J. Weissenbach, J. W. Foster, P. Goodfellow, 1995, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

The clinical relevance and prognostic significance of HER2/Neu in gastric cancers

S. Mansour, A. R. Hinnis, 2013 .

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

H. Cross, M. Patton, S. Mansour, 2014, American journal of human genetics.

Consensus recommendations on lymphedema in Phelan-McDermid syndrome.

S. Mansour, R. Damstra, S. Vignes, 2023, European journal of medical genetics.

Vitamin-D receptor expression in cutaneous warts

S. Mansour, A. Gomaa, Noha Z Tawfik, 2022, Journal of the Egyptian Women's Dermatologic Society.

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.

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.

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

K. Heimdal, K. Prescott, F. Sciurba, 2013 .

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

S. Mansour, G. Brice, F. Connell, 2013, Circulation research.

Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.

S. Mansour, J. Drenth, P. Mortimer, 2008, Archives of dermatology.

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

S. Mundlos, I. Demuth, S. Mansour, 2010, Nucleus.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

S. Mansour, D. Hanson, S. Nampoothiri, 2012, Journal of Molecular Endocrinology.