S. Naik

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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 .

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing

A. Offiah, R. Caswell, S. Naik, 2021, American journal of medical genetics. Part A.

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.

Successful Treatment of Congenital TTP With a Novel Approach Using Plasma-derived Factor VIII

D. Mahoney, S. Naik, 2013, Journal of pediatric hematology/oncology.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

C. Pantaleoni, F. Natacci, E. Cattaneo, 2022, International journal of molecular sciences.

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome.

J. Crolla, N. S. Thomas, I. Temple, 2011, European journal of medical genetics.

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation.

J. Baptista, S. Naik, H. McDermott, 2022, European journal of medical genetics.

Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing

H. Cox, S. Naik, H. McDermott, 2021, Neuromuscular Disorders.

Phenytoin-induced aplastic anemia in generalized tonic clonic seizures patient: A case report

P. Bindu, S. Naik, P. Krishnaveni, 2020 .

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 .

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

J. Thornton, R. Laskowski, Alison M. Male, 2017, Human molecular genetics.

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

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

Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.

J. Baptista, K. Gilmour, S. Naik, 2022, European journal of medical genetics.

Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14

I. Temple, S. Naik, 2010, Archives of Disease in Childhood.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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

Expanding the phenotypic spectrum of Chromosome16p13.11 microduplication: A multicentric analysis of 206 patients.

C. Mercer, R. McGowan, J. Carmichael, 2023, European journal of medical genetics.

Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.

A. Siddiqui, M. Malik, D. Josifova, 2011, Pediatric neurology.

Xq21.1q21.31 Duplication in Two Male Siblings

S. Naik, L. Reali, Charlotte A Sherlaw-Sturrock, 2021, Molecular Syndromology.

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain

D. Baralle, I. Temple, N. S. Thomas, 2012, Molecular Syndromology.

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.

Rapid exome sequencing: revolutionises the management of acutely unwell neonates

J. Baptista, P. Satodia, S. Naik, 2021, European Journal of Pediatrics.

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.

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.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

K. Lachlan, M. Parker, S. Sharif, 2019, American journal of medical genetics. Part A.

E. Wassmer, S. Naik, G. Ryan, 2023, Molecular Syndromology.