Fragile X syndrome: a unique mutation in man

Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature communications·2019

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Molecular psychiatry·2012

Towards an evidence-based process for the clinical interpretation of copy number variation.

Clinical genetics·2011

Addressing the challenges of the clinical application of pharmacogenetic testing.

Clinical pharmacology and therapeutics·2009

Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1.

Journal of inherited metabolic disease·2009

Organization of Ribosomal RNA Genes in Eukaryotes.

Annual review of genetics·2026

Design Principles and Architecture of Cellular Nutrient Signaling.

Annual review of genetics·2026

Dynamic Centromeres Under Epigenetic Constraint.

Annual review of genetics·2026

Mitochondrial DNA Inheritance and Germline Purifying Selection: Insights From Drosophila.

Annual review of genetics·2026

Genomic Imprinting: Common Threads Uniting Diverse Biological Systems.

Annual review of genetics·2026

Properties and Prospects of B Chromosomes.

Annual review of genetics·2026

The Identification of the Novel HLA-B*18:01:01:98 Allele in an Individual From Western India.

HLA·2026

A 20-Year-Old Man With Disproportionate Chest Radiograph Abnormality.

CHEST pulmonary·2026

RETRACTED: Alam et al. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering 2022, 9, 710.

Bioengineering (Basel, Switzerland)·2026

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

The Journal of the Association of Physicians of India·2026

Ventricular Migration of Transcatheter Valve During Transcatheter Aortic Valve Replacement After Valve-Sparing Root Replacement: A Case Report.

Journal of the Society for Cardiovascular Angiography & Interventions·2026

Erratum: Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C>A for Exon 27 Splicing and Axonal Transport of SFPQ.

Neurology. Genetics·2026

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Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Towards an evidence-based process for the clinical interpretation of copy number variation.

Addressing the challenges of the clinical application of pharmacogenetic testing.

Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1.

Organization of Ribosomal RNA Genes in Eukaryotes.

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