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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Genetics in medicine, 2020-03, Vol.22 (3), p.490-499

2020

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Reciprocal Requirements for EDA/EDAR/NF-κB and Wnt/β-Catenin Signaling Pathways in Hair Follicle Induction

Developmental cell, 2009-07, Vol.17 (1), p.49-61

2009

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P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies

Genetics in Medicine Open, 2024, Vol.2, p.101184, Article 101184

2024

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ALG11‐CDG syndrome: Expanding the phenotype

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.498-502

2019

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Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child

Journal of pediatric hematology/oncology, 2020-03, Vol.42 (2), p.e114

2020

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De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1319-1327

2017

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The protective effect of SARS-CoV-2 antibodies in Scottish healthcare workers

ERJ open research, 2021-04, Vol.7 (2), p.80

2021

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Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database

Molecular genetics and metabolism, 2013-12, Vol.110 (4), p.477-483

2013

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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

Molecular genetics and metabolism, 2012-05, Vol.106 (1), p.55-61

2012

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Wnt-β-catenin signaling initiates taste papilla development

Nature genetics, 2007-01, Vol.39 (1), p.106-112

2007

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Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations

BMJ case reports, 2018-01, Vol.2018, p.bcr-2017-222614

2018

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Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion

Gene, 2015-02, Vol.556 (2), p.249-253

2015

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When moments matter: Finding answers with rapid exome sequencing

Molecular genetics & genomic medicine, 2020-02, Vol.8 (2), p.e1027-n/a

2020

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Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2871-2878

2011

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Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107696-107696, Article 107696

2023

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Cover Image, Volume 179A, Number 3, March 2019

American journal of medical genetics. Part A, 2019-03, Vol.179 (3)

2019

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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

Genetics in medicine, 2016-02, Vol.18 (2), p.162-167

2016

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A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

JIMD Reports - Volume 11, 2013, Vol.11, p.99-106

2013

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Wnt-[beta]-catenin signaling initiates taste papilla development

Nature genetics, 2007-01, Vol.39 (1), p.106-112

2007

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Wnt-b-catenin signaling initiates taste papilla development

Nature genetics, 2007-01, Vol.39 (1), p.106-112

2007

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Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction

Developmental cell, 2009-07, Vol.17 (1), p.49-61

2009

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Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

American Journal of Medical Genetics Part A, 2011, Vol.155A (11), p.2871-2878

2011

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Sofosbuvir and Velpatasvir for HCV in Patients with Decompensated Cirrhosis

The New England journal of medicine, 2015-12, Vol.373 (27), p.2618-2628

2015

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Mepitel Film for the Prevention of Acute Radiation Dermatitis in Breast Cancer: A Randomized Multicenter Open-Label Phase III Trial

Journal of clinical oncology, 2023-02, Vol.41 (6), p.1250-1264

2023

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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Reciprocal Requirements for EDA/EDAR/NF-κB and Wnt/β-Catenin Signaling Pathways in Hair Follicle Induction

P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies

ALG11‐CDG syndrome: Expanding the phenotype

Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child

De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies

The protective effect of SARS-CoV-2 antibodies in Scottish healthcare workers

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

Wnt-β-catenin signaling initiates taste papilla development

Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations

Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion

When moments matter: Finding answers with rapid exome sequencing

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Cover Image, Volume 179A, Number 3, March 2019

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

Wnt-[beta]-catenin signaling initiates taste papilla development

Wnt-b-catenin signaling initiates taste papilla development

Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

Sofosbuvir and Velpatasvir for HCV in Patients with Decompensated Cirrhosis

Mepitel Film for the Prevention of Acute Radiation Dermatitis in Breast Cancer: A Randomized Multicenter Open-Label Phase III Trial

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