D. Cilliers

发表

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

Jeremy A. Sabourin, Alexander F. Wilson, A. F. Wilson, 2020, Human Genetics.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

J. Rosenfeld, B. Torchia, L. Shaffer, 2010, American journal of medical genetics. Part A.

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

N. Rahman, S. Huson, S. Mansour, 2007, Nature Genetics.

Prenatal Assessment of Genomes and Exomes Consortium (2019). Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): A cohort study. Obstetrical and Gynecological Survey , 74 (7), 394-396.

E. Prigmore, T. Homfray, E. Quinlan-Jones, 2019 .

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

B. Wagner, P. Coucke, Marta C. Cohen, 2013, American journal of medical genetics. Part A.

A Family with Co-existing SDHB and SDHD Mutations Causing Hereditary Paraganglioma Syndrome

Soo-Mi Park, S. Kenwrick, F. Lalloo, 2013 .

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

J. Clayton-Smith, W. Newman, P. Clayton, 2007, European journal of medical genetics.

Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

Nada Jabado, James Curtis, Sergey Nejentsev, 2013, Science.

Cerebro-facio-thoracic dysplasia: expanding the phenotype.

J. Clayton-Smith, E. Utine, Y. Alanay, 2007, Clinical dysmorphology.

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.

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

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

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.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Julian R. E. Davis, T. Walsh, M. King, 2013, American journal of human genetics.

The Significance of Squamosal Suture Synostosis

K. Eley, David W. Johnson, S. Wall, 2016, The Journal of craniofacial surgery.

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

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

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

M. B. Pereira, A. Need, M. Kayikci, 2021, Genetics in Medicine.

Diagnostic value of exome and whole genome sequencing in craniosynostosis

J. Hurst, Jenny C. Taylor, S. Twigg, 2016, Journal of Medical Genetics.

Perrault syndrome: further evidence for genetic heterogeneity

Julian R. E. Davis, A. Green, W. Reardon, 2012, Journal of Neurology.

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

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.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in 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.

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

A. de Burca, L. Impey, C. Ioannou, 2022, Prenatal diagnosis.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

A. Pagnamenta, N. Popitsch, G. Lunter, 2023, Genome Medicine.

Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

B. Wagner, P. Coucke, Marta C. Cohen, 2013, American journal of medical genetics. Part A.

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.

D. Cilliers, N. Chandler, J. Castleman, 2023, Prenatal diagnosis.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

J. Rosenfeld, B. Torchia, L. Shaffer, 2010, American journal of medical genetics. Part A.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Alison M. Male, E. Baple, N. Canham, 2024, Frontiers in genetics.