V. Varghese

发表

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 .

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

A. Fry, K. Lachlan, R. Newbury-Ecob, 2020, American journal of medical genetics. Part A.

Internal jugular, subclavian and brachiocephalic vein thrombosis associated with cerebral venous sinus thrombosis.

V. Varghese, G. Kulkarni, V. Mustare, 2013, Neurology India.

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.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

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

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

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.

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type

W. Newman, K. Hentges, J. Amiel, 2020, Human Mutation.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

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.

A clinical scoring system for congenital contractural arachnodactyly

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

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Factors Determining Cognitive Dysfunction in Cerebral Small Vessel Disease

R. Christopher, J. Rajeswaran, T. Issac, 2016, Indian journal of psychological 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.

G. Repetto, N. Lahiri, I. Scurr, 2023, American journal of medical genetics. Part A.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

A clinical scoring system for congenital contractural arachnodactyly

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