P. Vasudevan

P. Vasudevan, E. Craft, Pradeep C Vasudevan, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature

P. Vasudevan, P. Houtman, H. Rowley, 2015, Prenatal diagnosis.

Mosaic structural variation in children with developmental disorders

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

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

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.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

T. de Ravel, K. Devriendt, H. Van Esch, 2015, Orphanet Journal of Rare Diseases.

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

D. Baralle, J. Clayton-Smith, S. Holder, 2019, Archives of Disease in Childhood.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome

Z. Stark, S. Sadedin, M. Balasubramanian, 2017, American journal of medical genetics. Part A.

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

S. Abbs, P. Vasudevan, P. Alexander, 2020, Molecular genetics & genomic medicine.

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.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

P. Jeggo, K. Prescott, G. Stewart, 2012, PLoS genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

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

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2022, The lancet. Psychiatry.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

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.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

J. Mulliken, S. Twigg, A. Wilkie, 2006, European Journal of Human Genetics.

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Elena B. Riel, M. Hurles, E. Carpenter, 2021, medRxiv.

A case of Fryns syndrome without diaphragmatic hernia and review of the literature

H. Stewart, P. Vasudevan, 2004, Clinical dysmorphology.

Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family

J. Feehally, P. Vasudevan, V. Jain, 2014, Clinical kidney journal.

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation

Soo-Mi Park, P. Vasudevan, A. Nicholas, 2017, Endocrinology, diabetes & metabolism case reports.

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.

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.

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

P. Vasudevan, G. Tanteles, M. Phelan, 2016, American journal of medical genetics. Part A.

Periodic episodes of weakness over 7 years

P. Vasudevan, M. Kong, J. Dales, 2016 .

Retinal and optic nerve changes in microcephaly

I. Gottlob, E. Papageorgiou, P. Vasudevan, 2018, Neurology.

Retinal and optic nerve changes in microcephaly An optical coherence tomography study

I. Gottlob, E. Papageorgiou, P. Vasudevan, 2022 .

D. Dunaway, S. Twigg, A. Wilkie, 2019, American journal of medical genetics. Part A.

Monosomy 5p and trisomy 12p in a boy with familial balanced translocation

M. Parker, P. Vasudevan, 2006, Clinical dysmorphology.

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.

Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

S. Gallati, P. Itin, P. Lapunzina, 2016, Molecular genetics & genomic medicine.

Prader-Willi and Klinefelter syndrome: a coincidence or not?

P. Vasudevan, O. Quarrell, 2007, Clinical dysmorphology.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

MISSING LINKS - GENDER EQUITY IN SCIENCE TECHNOLOGY FOR DEVELOPMENTS

S. Mehtani, V. Jain, P. Vasudevan, 1996 .

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

M. Botella, N. Shannon, P. Vasudevan, 2005, Clinical dysmorphology.

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

L. Cresswell, P. Vasudevan, P. Warman, 2016, Ophthalmic 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.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

A. Pagnamenta, R. Borgatti, H. Firth, 2018, Genetics in Medicine.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

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

Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2023, JCPP Advances.

A comprehensive review of orofacial cleft patients at a university hospital genetic department in the UK

P. Vasudevan, R. Jayarajan, 2019, Journal of Cleft Lip Palate and Craniofacial Anomalies.

Huntington's Disease

P. Vasudevan, R. Abbott, V. Jain, 2012 .

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.

Oxford desk reference: clinical genetics

P. Vasudevan, 2006 .

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.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, P. Holmans, 2022, The lancet. Psychiatry.

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

M. Hurles, C. Lelliott, B. Yalcin, 2023, Brain : a journal of neurology.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.