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Genome sequencing and implications for rare disorders

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.153-10, Article 153

Posey, Jennifer E

2019

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31

2017

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Phenotypic expansion illuminates multilocus pathogenic variation

Genetics in medicine, 2018-12, Vol.20 (12), p.1528-1537

2018

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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic acids research, 2024-02, Vol.52 (4), p.e18

2024

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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.365-365, Article 365

2021

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Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

BMC medical genomics, 2024-08, Vol.17 (1), p.1-6, Article 201

2024

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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

BMC medical genomics, 2024-04, Vol.17 (1), p.85-9, Article 85

2024

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Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.38-52

2020

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Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2919-2925

2020

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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome medicine, 2024-04, Vol.16 (1), p.53-20, Article 53

2024

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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Genome medicine, 2022-10, Vol.14 (1), p.122-21, Article 122

2022

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22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1066-1070

2017

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Erratum. Atypical Diabetes: What Have We Learned and What Does the Future Hold? Diabetes Care 2024;47:770–781

Diabetes care, 2024-09, Vol.47 (9), p.1713-1713

2024

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Atypical Diabetes: What Have We Learned and What Does the Future Hold?

Diabetes care, 2024-05, Vol.47 (5), p.770-781

2024

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Genomics in Clinical Practice

The New England journal of medicine, 2023-04, Vol.388 (17), p.1619-1620

2023

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Metabolic individuality: Limitations, challenges, and potential for clinical utility

Cell metabolism, 2023-02, Vol.35 (2), p.233-235

2023

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Human embryonic genetic mosaicism and its effects on development and disease

Nature reviews. Genetics, 2024-04

2024

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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Genome medicine, 2016-02, Vol.8 (1), p.13-13, Article 13

2016

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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1397-n/a

2020

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Dominant Transmission Observed in Adolescents and Families with Orthostatic Intolerance

Pediatric neurology, 2017-01, Vol.66, p.53-58.e5

2017

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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1395-1406

2019

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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

Frontiers in pediatrics, 2019-07, Vol.7, p.303

2019

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.610-627

2020

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AHDC1 missense mutations in Xia-Gibbs syndrome

HGG advances, 2021-10, Vol.2 (4), p.100049, Article 100049

2021

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An ELF4 hypomorphic variant results in NK cell deficiency

JCI insight, 2022-12, Vol.7 (23)

2022

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Genome sequencing and implications for rare disorders

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Phenotypic expansion illuminates multilocus pathogenic variation

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

Erratum. Atypical Diabetes: What Have We Learned and What Does the Future Hold? Diabetes Care 2024;47:770–781

Atypical Diabetes: What Have We Learned and What Does the Future Hold?

Genomics in Clinical Practice

Metabolic individuality: Limitations, challenges, and potential for clinical utility

Human embryonic genetic mosaicism and its effects on development and disease

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Dominant Transmission Observed in Adolescents and Families with Orthostatic Intolerance

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

AHDC1 missense mutations in Xia-Gibbs syndrome

An ELF4 hypomorphic variant results in NK cell deficiency

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