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P026: Severe central apnea in two siblings with ALG8-CDG

Genetics in Medicine Open, 2023, Vol.1 (1), p.100036, Article 100036

2023

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Genetics in medicine, 2018-12, Vol.20 (12), p.1663-1676

2018

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Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD1L Gene

Cardiogenetics, 2020-09, Vol.10 (1), p.9193

2020

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A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members

Tremor and other hyperkinetic movements (New York, N.Y.), 2022-03, Vol.12 (1), p.7

2022

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Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.617-620

2015

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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Neurology. Genetics, 2021-12, Vol.7 (6), p.e613-e613

2021

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Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1414-1417

2015

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eP459 - Medical students’ knowledge of, experiences with, and attitudes towards direct-to-consumer genetic testing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S293-S294

2021

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Medical students’ knowledge of, experiences with, and attitudes towards direct-to-consumer genetic testing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S293-S294

2021

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eP202: A new pathologic KMT2B variant associated with childhood onset dystonia presenting as variable phenotypes among family members

Genetics in medicine, 2022-03, Vol.24 (3), p.S124-S125

2022

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eP181: Expanding the phenotype of LMNB1 duplication: Three generation family with microcephalic infant, asymptomatic individual, and eldest member without leukodystrophy

Genetics in medicine, 2022-03, Vol.24 (3), p.S112-S112

2022

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

Human genomics, 2015-07, Vol.9 (1), p.15-15, Article 15

2015

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Recommendations for the integration of genomics into clinical practice

Genetics in medicine, 2016-11, Vol.18 (11), p.1075-1084

2016

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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2374-2383

2021

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Offering preimplantation genetic testing for monogenic disorders (PGT‐M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors

Journal of genetic counseling, 2022-02, Vol.31 (1), p.261-268

2022

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Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature

Journal of pediatric genetics (Birmingham, Ala.), 2022-12, Vol.11 (4), p.324-332

2022

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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Journal of medical genetics, 2015-02, Vol.52 (2), p.104-110

2015

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Abstract 16899: Exome Sequencing for Genetic Etiology in Families With Sudden Cardiac Death or Arrest

Circulation (New York, N.Y.), 2016-11, Vol.134 (Suppl_1 Suppl 1), p.A16899-A16899

2016

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Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature

Journal of pediatric genetics, 2022, Vol.11 (4), p.324-332

2022

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A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members

Tremor and other hyperkinetic movements (New York, N.Y.), 2022, Vol.12, p.7-7

2022

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Targeting Wnt-driven cancer through the inhibition of Porcupine by LGK974

Proceedings of the National Academy of Sciences - PNAS, 2013-12, Vol.110 (50), p.20224-20229

2013

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Small Molecule Inhibition of the Ubiquitin-specific Protease USP2 Accelerates cyclin D1 Degradation and Leads to Cell Cycle Arrest in Colorectal Cancer and Mantle Cell Lymphoma Models

The Journal of biological chemistry, 2016-11, Vol.291 (47), p.24628-24640

2016

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Emerging New Crop Pests: Ecological Modelling and Analysis of the South American Potato Psyllid Russelliana solanicola (Hemiptera: Psylloidea) and Its Wild Relatives

PloS one, 2017-01, Vol.12 (1), p.e0167764-e0167764

2017

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Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease

PloS one, 2016-05, Vol.11 (5), p.e0154943-e0154943

2016

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Expression Quantitative Trait Loci Analysis in Multiple Tissues

Methods in molecular biology (Clifton, N.J.), 2020, Vol.2082, p.231

Li, Gen

2020

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P026: Severe central apnea in two siblings with ALG8-CDG

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD1L Gene

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

eP459 - Medical students’ knowledge of, experiences with, and attitudes towards direct-to-consumer genetic testing

Medical students’ knowledge of, experiences with, and attitudes towards direct-to-consumer genetic testing

eP202: A new pathologic KMT2B variant associated with childhood onset dystonia presenting as variable phenotypes among family members

eP181: Expanding the phenotype of LMNB1 duplication: Three generation family with microcephalic infant, asymptomatic individual, and eldest member without leukodystrophy

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

Recommendations for the integration of genomics into clinical practice

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Offering preimplantation genetic testing for monogenic disorders (PGT‐M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors

Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Abstract 16899: Exome Sequencing for Genetic Etiology in Families With Sudden Cardiac Death or Arrest

Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members

Targeting Wnt-driven cancer through the inhibition of Porcupine by LGK974

Small Molecule Inhibition of the Ubiquitin-specific Protease USP2 Accelerates cyclin D1 Degradation and Leads to Cell Cycle Arrest in Colorectal Cancer and Mantle Cell Lymphoma Models

Emerging New Crop Pests: Ecological Modelling and Analysis of the South American Potato Psyllid Russelliana solanicola (Hemiptera: Psylloidea) and Its Wild Relatives

Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease

Expression Quantitative Trait Loci Analysis in Multiple Tissues

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