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2. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

3. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

4. Best Practices for Virtual Care: A Consensus Statement From the Canadian Rheumatology Association

5. Mobile element insertion detection in 89,874 clinical exomes

6. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

7. Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

8. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations

9. Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience

10. Integrated small copy number variations and epigenome maps of disorders of sex development

11. TRAIL and KILLER Are Expressed and Induce Apoptosis in the Murine Preimplantation Embryo1

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