D. Osio

发表

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31).

P. Turnpenny, D. Osio, N. Jain, 2015, Clinical dysmorphology.

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.

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

A. Pagnamenta, Jenny C. Taylor, A. Fry, 2021, Journal of Medical Genetics.

Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease

D. Milewicz, M. Sweeting, F. Lai, 2020, Trials.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E. van Binsbergen, S. Twigg, A. Wilkie, 2019, American journal of human genetics.

The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4),

M. V. Dooren, S. Twigg, A. Wilkie, 2019 .

Improved final height with long‐term growth hormone treatment in Noonan syndrome

J. Dahlgren, D. Osio, K. A. Wikland, 2005 .

Urinary Excretion of N-Acetyl-β-D-Glucosaminidase and Epidermal Growth Factor in Paediatric Patients Receiving Cefixime Prophylaxis for Recurrent Urinary Tract Infections

M. Mussap, M. Plebani, V. Fanos, 2001 .

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

A. Vasiljevic, G. Lesca, N. Chatron, 2019, Brain : a journal of neurology.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

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

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

End Results in Central Precocious Puberty with GnRH Analog Treatment: The Data of the Italian Study Group for Physiopathology of Puberty

M. Cisternino, S. Bertelloni, F. Antoniazzi, 2000, Journal of pediatric endocrinology & metabolism : JPEM.

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.

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

H. Van Esch, J. Rankin, H. Koillinen, 2018, American journal of medical genetics. Part A.

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

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

Improved final height with long-term growth hormone treatment in Noonan syndrome.

J. Dahlgren, D. Osio, K. A. Wikland, 2005, Acta paediatrica.

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

H. Stewart, I. Maystadt, S. Joss, 2023, American journal of medical genetics. Part A.

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

J. Baptista, J. Eason, M. Suri, 2022, European journal of medical genetics.