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Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Scientific reports, 2021-11, Vol.11 (1), p.22372-22372, Article 22372

2021

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SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing

Scientific reports, 2023-10, Vol.13 (1), p.18036-18036, Article 18036

2023

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TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

PloS one, 2015-07, Vol.10 (7), p.e0134120-e0134120

2015

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Whole-Genome Sequencing Reveals Differences among Kingella kingae Strains from Carriers and Patients with Invasive Infections

Microbiology spectrum, 2023-06, Vol.11 (3), p.e0389522-e0389522

2023

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Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy

Journal of cell science, 2010-09, Vol.123 (18), p.3112-3124

2010

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Prolonged survival of a patient with active MDR-TB HIV co-morbidity: insights from a Mycobacterium tuberculosis strain with a unique genomic deletion

Frontiers in medicine, 2023-11, Vol.10, p.1292665-1292665

2023

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Constitutive Activity of the Human TRPML2 Channel Induces Cell Degeneration

The Journal of biological chemistry, 2010-01, Vol.285 (4), p.2771-2782

2010

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Mucolipidosis type IV and the mucolipins

Biochemical Society transactions, 2010-12, Vol.38 (6), p.1432

2010

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Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

American journal of human genetics, 2022-06, Vol.109 (6), p.981-988

2022

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Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users

European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1113-1117

2017

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Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements

Molecular genetics and genomics : MGG, 2022-07, Vol.297 (4), p.925-933

2022

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A Cluster of Bacillus cereus Infections in the Neonatal Intensive Care Unit: Epidemiologic and Whole-genome Sequencing Analysis

The Pediatric infectious disease journal, 2019-11, Vol.38 (11), p.e301

2019

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Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

Genetics in medicine, 2019-06, Vol.21 (6), p.1390-1399

2019

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The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users

Journal of assisted reproduction and genetics, 2020-08, Vol.37 (8), p.1903-1912

2020

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A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Human genome variation, 2019-09, Vol.6 (1), p.45-45, Article 45

2019

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The utility of MALDI-TOF MS for outbreak investigation in the neonatal intensive care unit

European journal of pediatrics, 2020-12, Vol.179 (12), p.1843-1849

2020

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Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1420-1425

2022

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TRPML and lysosomal function

Biochimica et biophysica acta, 2007-08, Vol.1772 (8), p.851-858

2007

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Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2144-2151

2019

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Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications

Journal of assisted reproduction and genetics, 2019-04, Vol.36 (4), p.727-739

2019

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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

American journal of human genetics, 2020-05, Vol.106 (5), p.623-631

2020

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Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

Genetics in medicine, 2021-07, Vol.23 (7), p.1334-1340

2021

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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

The Journal of clinical investigation, 2015-10, Vol.125 (10), p.3757-3765

2015

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When a Root Is the Cause of Infection

World neurosurgery, 2020-12, Vol.144, p.258-261.e1

2020

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An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke

Gene, 2014-10, Vol.549 (2), p.275-279

2014

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Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

Whole-Genome Sequencing Reveals Differences among Kingella kingae Strains from Carriers and Patients with Invasive Infections

Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy

Prolonged survival of a patient with active MDR-TB HIV co-morbidity: insights from a Mycobacterium tuberculosis strain with a unique genomic deletion

Constitutive Activity of the Human TRPML2 Channel Induces Cell Degeneration

Mucolipidosis type IV and the mucolipins

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users

Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements

A Cluster of Bacillus cereus Infections in the Neonatal Intensive Care Unit: Epidemiologic and Whole-genome Sequencing Analysis

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

The utility of MALDI-TOF MS for outbreak investigation in the neonatal intensive care unit

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant

TRPML and lysosomal function

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

When a Root Is the Cause of Infection

An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke

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