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85 results on '"Mulvihill, John J."'

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1. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

2. De novo variants in DENND5B cause a neurodevelopmental disorder

3. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

4. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

5. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

6. One is the loneliest number: genotypic matchmaking using the electronic health record

7. Corrigendum to eP296-The yield of thorough record review in the Undiagnosed Diseases Network, Volume 132, Supplement 1, April 2021, Page S187, https://doi.org/10.1016/S1096-7192(21)00378-4

8. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

9. Response to Hamosh et al.

10. Mechanical characterisation of the human dura mater, falx cerebri and superior sagittal sinus

11. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

12. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

13. A dyadic approach to the delineation of diagnostic entities in clinical genomics

14. Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

15. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

16. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

17. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

18. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

19. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

20. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

21. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

22. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

23. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

24. IRF2BPL Is Associated with Neurological Phenotypes

25. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

26. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

27. Research standardization tools: pregnancy measures in the PhenX Toolkit

28. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

29. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

30. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

31. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

32. Recommendations for the integration of genomics into clinical practice

33. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

36. Reporting genomic secondary findings: ACMG members weigh in

37. A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population

40. Harnessing genomics to identify environmental determinants of heritable disease

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