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Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp)

Cancers, 2023-04, Vol.15 (9), p.2548

2023

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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Scientific reports, 2021-05, Vol.11 (1), p.11295-12, Article 11295

2021

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Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2

Cold Spring Harbor molecular case studies, 2021-12, Vol.7 (6), p.a006115

2021

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Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling

MicroRNA, 2020-01, Vol.9 (1), p.70-80

2020

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Pancreas divisum, an evidence-based review: part I, pathophysiology

Gastrointestinal endoscopy, 2004-09, Vol.60 (3), p.419-425

2004

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Overgrowth syndromes, diagnosis and management

Current opinion in pediatrics, 2023-12, Vol.35 (6), p.620-630

2023

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Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review

American journal of medical genetics. Part A, 2024-08, p.e63840

2024

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Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2517-2531

2019

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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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Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1381

2017

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Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

Molecular genetics & genomic medicine, 2019-02, Vol.7 (2), p.e00501-n/a

2019

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Pancreas divisum, an evidence-based review: part II, patient selection and treatment

Gastrointestinal endoscopy, 2004-10, Vol.60 (4), p.585-589

2004

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Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific MicroRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling

MicroRNA, 2020, Vol.9 (1), p.70-80

Klein, Steven D.

2020

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Response

Gastrointestinal endoscopy, 2005-04, Vol.61 (4), p.637

2005

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Results of surgical treatment for unstable distal clavicular fractures

Journal of shoulder and elbow surgery, 2010-10, Vol.19 (7), p.1049-1055

2010

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Pancreas divisum as the etiology of acute pancreatitis in children

Gastrointestinal endoscopy, 2005-04, Vol.61 (4), p.637-637

DeBanto, John R.

2005

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Wireless capsule endoscopy (CE) is more informative than ileoscopy and SBFT for the evaluation of the small intestine (SI) in patients with known or suspected Crohn's disease

Gastroenterology (New York, N.Y. 1943), 2003-04, Vol.124 (4), p.A203-A204

2003

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Quantitative Optical Coherence Tomography Angiography of Choroidal Neovascularization in Age-Related Macular Degeneration

Ophthalmology (Rochester, Minn.), 2014-07, Vol.121 (7), p.1435-1444

2014

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Behavioral modeling of human choices reveals dissociable effects of physical effort and temporal delay on reward devaluation

PLoS computational biology, 2015-03, Vol.11 (3), p.e1004116-e1004116

2015

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Risk of anaphylaxis after vaccination in children and adults

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.868-878

2016

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Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy

Clinical pharmacology and therapeutics, 2021-10, Vol.110 (4), p.888-896

2021

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Donor selection for natural killer cell receptor genes leads to superior survival after unrelated transplantation for acute myelogenous leukemia

Blood, 2010-10, Vol.116 (14), p.2411-2419

2010

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Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes

Journal of allergy and clinical immunology, 2016-05, Vol.137 (5), p.1498-1505.e1

2016

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Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Journal of allergy and clinical immunology, 2009-12, Vol.124 (6), p.1289-1302.e4

2009

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Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of clinical immunology, 2020, Vol.40 (1), p.24-64

2020

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Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp)

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling

Pancreas divisum, an evidence-based review: part I, pathophysiology

Overgrowth syndromes, diagnosis and management

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review

Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

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

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

Pancreas divisum, an evidence-based review: part II, patient selection and treatment

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific MicroRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling

Response

Results of surgical treatment for unstable distal clavicular fractures

Pancreas divisum as the etiology of acute pancreatitis in children

Wireless capsule endoscopy (CE) is more informative than ileoscopy and SBFT for the evaluation of the small intestine (SI) in patients with known or suspected Crohn's disease

Quantitative Optical Coherence Tomography Angiography of Choroidal Neovascularization in Age-Related Macular Degeneration

Behavioral modeling of human choices reveals dissociable effects of physical effort and temporal delay on reward devaluation

Risk of anaphylaxis after vaccination in children and adults

Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy

Donor selection for natural killer cell receptor genes leads to superior survival after unrelated transplantation for acute myelogenous leukemia

Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

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