D. Lim

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

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 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing

P. Morrison, A. Warren, M. Tischkowitz, 2020, Genes, chromosomes & cancer.

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.

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

H. Stewart, Marie-Odile Baudement, L. Tee, 2013, Clinical Epigenetics.

Epigenotype–phenotype correlations in Silver–Russell syndrome

I. Temple, S Kumar, D. Mackay, 2010, Journal of Medical Genetics.

Epigenotypeephenotype correlations in SilvereRussell syndrome

I. Temple, D. Mackay, E. Maher, 2010 .

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

R. Zannolli, J. Goodship, P. Lapunzina, 2009, Human mutation.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

W. Reik, F. Rahman, J. Yates, 2009, PLoS genetics.

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

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

Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

L. Brueton, D. Lim, D. McMullan, 2014, American journal of medical genetics. Part A.

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.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

J. Hoenicka, J. Baptista, A. Fry, 2021, American journal of medical genetics. Part A.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

J. Clayton-Smith, D. Evans, G. Hall, 2017, Journal of Medical Genetics.

Human imprinting syndromes.

E. Maher, D. Lim, 2009, Epigenomics.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

S. McKee, M. McEntagart, D. Mackay, 2021, Journal of Medical Genetics.

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

L. Tee, E. Maher, P. Nightingale, 2014, Clinical Epigenetics.

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

H. Stewart, Marie-Odile Baudement, L. Tee, 2013, Clinical Epigenetics.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, Clinical 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 phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human 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.

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 second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.

D. Lim, K. Foster, E. Wassemer, 2021, Clinical dysmorphology.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.