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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2013-04, Vol.92 (4), p.632-636

2013

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Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion

Frontiers in endocrinology (Lausanne), 2018-11, Vol.9, p.641

2018

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Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy

Journal of dermatology, 2020-08, Vol.47 (8), p.898-902

2020

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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1833-1852

2013

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Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Circulation (New York, N.Y.), 2018-09, Vol.138 (12), p.1195-1205

2018

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Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1994-1995

2017

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Role of signal transducer and activator of transcription 3 (STAT3) in stretch injury to bladder smooth muscle cells

Cell and tissue research, 2006-10, Vol.326 (1), p.149-158

2006

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Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway

Endocrine pathology, 2019-09, Vol.30 (3), p.237-245

2019

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Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services

European journal of medical genetics, 2020-04, Vol.63 (4), p.103818-103818, Article 103818

2020

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A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2939-2941

2010

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Germline whole genome sequencing in adults with multiple primary tumors

Familial cancer, 2023-10, Vol.22 (4), p.513-520

2023

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Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

Journal of bone and mineral research, 2018-07, Vol.33 (7), p.1260-1271

2018

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A novel mutation c.4003 GC in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2939-2941

2010

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MATRIX METALLOPROTEINASE-7 AND EPIDERMAL GROWTH FACTOR RECEPTOR MEDIATE HYPOXIA-INDUCED EXTRACELLULAR SIGNAL-REGULATED KINASE 1/2 MITOGEN-ACTIVATED PROTEIN KINASE ACTIVATION AND SUBSEQUENT PROLIFERATION IN BLADDER SMOOTH MUSCLE CELLS

In vitro cellular & developmental biology. Animal, 2006-05, Vol.42 (5), p.124-133

2006

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Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome

Clinical dysmorphology, 2009-07, Vol.18 (3), p.149

2009

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A Novel Mutation c.4003 G>C in the CREBBP Gene in an Adult Female With Rubinstein-Taybi Syndrome Presenting With Subtle Dimorphic Features

American journal of medical genetics. Part A, 2010, Vol.152 (11), p.2939-2941

2010

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Mechanotransduction of Extracellular Signal-Regulated Kinases 1 and 2 Mitogen-Activated Protein Kinase Activity in Smooth Muscle Is Dependent on the Extracellular Matrix and Regulated by Matrix Metalloproteinases

The American journal of pathology, 2006-08, Vol.169 (2), p.459-470

2006

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Cover Image, Volume 176A, Number 4, April 2018

American journal of medical genetics. Part A, 2018-04, Vol.176 (4)

2018

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Assessing the Informational Needs of Adolescents with a Genetic Condition: What Do They Want to Know?

Journal of genetic counseling, 2007-04, Vol.16 (2), p.201-210

2007

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Carbachol injections into the intergeniculate leaflet induce nonphotic phase shifts

Brain research, 2007-10, Vol.1177, p.59-65

2007

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MMP-7 And EGF Receptor Mediate Hypoxia-Induced Erk1/2 MAPK Activation And Subsequent Proliferation in Bladder Smooth Muscle Cells

In vitro cellular & developmental biology. Animal, 2006

2006

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A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

American journal of medical genetics. Part A, 2010, Vol.152A (11), p.2939-2941

2010

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Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion

Frontiers in endocrinology, 2018, Vol.9, p.641-641

2018

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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion

Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing

Role of signal transducer and activator of transcription 3 (STAT3) in stretch injury to bladder smooth muscle cells

Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway

Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

Germline whole genome sequencing in adults with multiple primary tumors

Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

A novel mutation c.4003 GC in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

MATRIX METALLOPROTEINASE-7 AND EPIDERMAL GROWTH FACTOR RECEPTOR MEDIATE HYPOXIA-INDUCED EXTRACELLULAR SIGNAL-REGULATED KINASE 1/2 MITOGEN-ACTIVATED PROTEIN KINASE ACTIVATION AND SUBSEQUENT PROLIFERATION IN BLADDER SMOOTH MUSCLE CELLS

Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients

Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome

A Novel Mutation c.4003 G>C in the CREBBP Gene in an Adult Female With Rubinstein-Taybi Syndrome Presenting With Subtle Dimorphic Features

Mechanotransduction of Extracellular Signal-Regulated Kinases 1 and 2 Mitogen-Activated Protein Kinase Activity in Smooth Muscle Is Dependent on the Extracellular Matrix and Regulated by Matrix Metalloproteinases

Cover Image, Volume 176A, Number 4, April 2018

Assessing the Informational Needs of Adolescents with a Genetic Condition: What Do They Want to Know?

Carbachol injections into the intergeniculate leaflet induce nonphotic phase shifts

MMP-7 And EGF Receptor Mediate Hypoxia-Induced Erk1/2 MAPK Activation And Subsequent Proliferation in Bladder Smooth Muscle Cells

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion

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