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Salience in Second Language Acquisition

1st edition., 2018

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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

American journal of human genetics, 2018-04, Vol.102 (4), p.696-705

2018

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Cisplatin induced Mitochondrial DNA damage in dorsal root ganglion neurons

Neurobiology of disease, 2011-03, Vol.41 (3), p.661-668

2011

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PIK3R1 , HRAS and AR Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland

Current issues in molecular biology, 2023-01, Vol.45 (2), p.954-962

2023

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Maple syrup urine disease: mechanisms and management

Application of clinical genetics, 2017-01, Vol.10, p.57-66

2017

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Twelve-Year Survival in a Patient With Systemic Sclerosis–Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy

Mayo Clinic proceedings. Innovations, quality & outcomes, 2019-09, Vol.3 (3), p.376-379

2019

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Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1

Hereditary cancer in clinical practice, 2017-07, Vol.15 (1), p.10-4, Article 10

2017

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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

Human molecular genetics, 2023-04, Vol.32 (9), p.1457-1465

2023

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Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

Case reports in genetics, 2018, Vol.2018 (2018), p.1-6

2018

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Histone Deacetylase Inhibitors Enhance Paclitaxel-induced Cell Death in Ovarian Cancer Cell Lines Independent of p53 Status

Anticancer research, 2004-03, Vol.24 (2B), p.539-545

2004

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Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor

The Neurologist (Baltimore, Md.), 2017-11, Vol.22 (6), p.247-248

2017

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Hydrocephaly associated with compound heterozygous alterations in TRAPPC12

Birth defects research, 2020-08, Vol.112 (13), p.1028-1034

2020

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A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

BMC medical genetics, 2016-12, Vol.17 (1), p.93-93, Article 93

2016

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A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Molecular genetics & genomic medicine, 2017-11, Vol.5 (6), p.781-787

2017

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Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

Clinical case reports, 2018-01, Vol.6 (1), p.8-13

2018

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A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8

Movement disorders clinical practice (Hoboken, N.J.), 2017-03, Vol.4 (2), p.270-272

2017

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A novel splice site variant in CYP 11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Molecular genetics & genomic medicine, 2017-11, Vol.5 (6), p.781-787

2017

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Loss of progranulin and its impact on neuronal function

Alzheimer's & dementia, 2010-07, Vol.6 (4), p.S83-S83

2010

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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.295-302

2017

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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR 1

Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.295-302

2017

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Using pyrosequencing to determine the allele origin of 15q duplication syndrome

Molecular genetics and metabolism, 2021-04, Vol.132, p.S256-S257

2021

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eP396 - Using pyrosequencing to determine the allele origin of 15q duplication syndrome

Molecular genetics and metabolism, 2021-04, Vol.132, p.S256-S257

2021

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19. De novo homozygous variant due to uniparental isodisomy results in a recessive disorder

Cancer genetics, 2021-04, Vol.252-253, p.S7-S7

2021

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eP373 - Analysis of X-inactivation status in a Rett syndrome natural history study cohort

Molecular genetics and metabolism, 2021-04, Vol.132, p.S239-S239

2021

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Salience in Second Language Acquisition

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Cisplatin induced Mitochondrial DNA damage in dorsal root ganglion neurons

PIK3R1 , HRAS and AR Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland

Maple syrup urine disease: mechanisms and management

Twelve-Year Survival in a Patient With Systemic Sclerosis–Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

Histone Deacetylase Inhibitors Enhance Paclitaxel-induced Cell Death in Ovarian Cancer Cell Lines Independent of p53 Status

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor

Hydrocephaly associated with compound heterozygous alterations in TRAPPC12

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8

A novel splice site variant in CYP 11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Loss of progranulin and its impact on neuronal function

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR 1

Using pyrosequencing to determine the allele origin of 15q duplication syndrome

eP396 - Using pyrosequencing to determine the allele origin of 15q duplication syndrome

19. De novo homozygous variant due to uniparental isodisomy results in a recessive disorder

eP373 - Analysis of X-inactivation status in a Rett syndrome natural history study cohort

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