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Limitations and recommendations for use of secondary data analysis in pediatric research

Children's Health Care, 2024-10, Vol.53 (4), p.488-504

2024

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Arab, Middle Eastern, and North African Health Disparities Research: A Scoping Review

Journal of racial and ethnic health disparities, 2024-03

2024

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No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.98-98, Article 98

2021

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But what will the results be?: Learning to tolerate uncertainty is associated with treatment-produced gains

Journal of anxiety disorders, 2019-12, Vol.68, p.102146-102146, Article 102146

2019

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Asthma and anxiety in children and adolescents: characteristics and treatment outcomes

The Journal of asthma, 2024-05, Vol.61 (5), p.396-404

2024

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Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.533-539

2018

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The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

Journal of human genetics, 2019-08, Vol.64 (8), p.721-728

2019

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Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2021-2026

2020

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Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs

Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1785-n/a

2021

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The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

Genes, 2020-04, Vol.11 (4), p.420

2020

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Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders

Journal of neurodevelopmental disorders, 2024-06, Vol.16 (1), p.35-12, Article 35

2024

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Vici syndrome in Israel: Clinical and molecular insights

Frontiers in genetics, 2022-09, Vol.13, p.991721-991721

2022

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P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs

Genetics in Medicine Open, 2023, Vol.1 (1), p.100266, Article 100266

2023

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Arbeitsmarkt in Kürze: Fluchtmigration: [Stand:] August 2016

2016

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Identifying facial phenotypes of genetic disorders using deep learning

Nature medicine, 2019-01, Vol.25 (1), p.60-64

2019

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The natural history of facial features observed in Sanfilippo syndrome (MPS IIIB) using a next generation phenotyping tool

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S112-S112

2019

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Patient advocacy groups and industry collaborate to establish a distinct Sanfilippo syndrome (MPS III) facial phenotype for use in visual diagnostic tool

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S110-S111

2018

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Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3

Molecular genetics and metabolism, 2021-11, Vol.134 (3), p.274-280

2021

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Nature genetics, 2022-03, Vol.54 (3), p.349-357

2022

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DeepGestalt as a potential novel method to help discriminate between the Gaucher disease subtypes

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S32-S32

2021

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A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1791-1795

2020

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Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping

European journal of medical genetics, 2020-07, Vol.63 (7), p.103927-103927, Article 103927

2020

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Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion

European journal of medical genetics, 2020-03, Vol.63 (3), p.103739, Article 103739

2020

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Limitations and recommendations for use of secondary data analysis in pediatric research

Arab, Middle Eastern, and North African Health Disparities Research: A Scoping Review

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

But what will the results be?: Learning to tolerate uncertainty is associated with treatment-produced gains

Asthma and anxiety in children and adolescents: characteristics and treatment outcomes

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders

Vici syndrome in Israel: Clinical and molecular insights

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs

Arbeitsmarkt in Kürze: Fluchtmigration: [Stand:] August 2016

Identifying facial phenotypes of genetic disorders using deep learning

The natural history of facial features observed in Sanfilippo syndrome (MPS IIIB) using a next generation phenotyping tool

Patient advocacy groups and industry collaborate to establish a distinct Sanfilippo syndrome (MPS III) facial phenotype for use in visual diagnostic tool

Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

DeepGestalt as a potential novel method to help discriminate between the Gaucher disease subtypes

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion

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