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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

Nature genetics, 2014-05, Vol.46 (5), p.516-521

2014

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Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation

Molecular genetics & genomic medicine, 2024-09, Vol.12 (9), p.e70010-n/a

2024

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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Scientific reports, 2016-06, Vol.6 (1), p.28253-28253, Article 28253

2016

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Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.469-478

2023

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.390-395

2006

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

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De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1134-1141

2015

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Germline mosaicism in a family with MBD5 haploinsufficiency

Cold Spring Harbor molecular case studies, 2022-12, Vol.8 (7), p.a006253

2022

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Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1245-1253

2014

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De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3194-3202

2014

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Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

BMJ open, 2013-01, Vol.3 (3), p.e001917

2013

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Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries

Cardiology in the young, 2015-01, Vol.25 (1), p.167-170

2015

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

Nature genetics, 2008-01, Vol.40 (1), p.32-34

2008

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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1066-1077

2020

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Similarity of Phenotype in Three Male Patients With the c. 320A >G Variant in ALG13 : Possible Genotype–Phenotype Correlation

Molecular genetics & genomic medicine, 2024-09, Vol.12 (9)

2024

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Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

Epilepsia (Copenhagen), 2019-08, Vol.60 (8), p.1670-1677

2019

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Enhancing Safety and Collaboration in Human Robot Interaction for Industrial Robotics

Journal of Robotics Spectrum, 2023-11, p.134-143

Greally, Marie T

2023

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Npj genomic medicine, 2024-10, Vol.9 (1), p.49-24, Article 49

2024

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Mutations in the Embryonal Subunit of the Acetyicholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.390

2006

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Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009, Vol.18 (12), p.2149-2165

2009

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H super(+)-ATPase subunit ATP6V0A2

Nature genetics, 2008-01, Vol.40 (1), p.32-34

2008

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Shprintzen-Goldberg syndrome: A clinical analysis

American journal of medical genetics, 1998-03, Vol.76 (3), p.202-212

1998

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TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay

Germline mosaicism in a family with MBD5 haploinsufficiency

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients

De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Similarity of Phenotype in Three Male Patients With the c. 320A >G Variant in ALG13 : Possible Genotype–Phenotype Correlation

Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

Enhancing Safety and Collaboration in Human Robot Interaction for Industrial Robotics

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Mutations in the Embryonal Subunit of the Acetyicholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6VOA2

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H super(+)-ATPase subunit ATP6V0A2

Shprintzen-Goldberg syndrome: A clinical analysis

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