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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1117-1124

2023

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Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1565-1569

2019

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Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome

The Journal of pediatrics, 2017-02, Vol.181, p.261-266

2017

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Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

The Journal of pediatrics, 2018-05, Vol.196, p.270-274.e1

2018

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P321: Atypical presentation of vascular Ehlers-Danlos syndrome (vEDS)

Genetics in Medicine Open, 2024, Vol.2, p.101215, Article 101215

2024

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Prenatal and Postnatal Genetic Testing: Why, How, and When?

Pediatric annals, 2017-11, Vol.46 (11), p.e423

Stoler, Joan M

2017

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Recent developments in fetal alcohol spectrum disorder

Current opinion in endocrinology, diabetes, and obesity, 2020-02, Vol.27 (1), p.77

2020

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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

American journal of human genetics, 2024-04, Vol.111 (4), p.761-777

2024

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Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Neurology, 2013-10, Vol.81 (16), p.1378

2013

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Leukodystrophies in Children: Diagnosis, Care, and Treatment

Pediatrics (Evanston), 2021-09, Vol.148 (3), p.1

2021

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Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications

Journal of allergy and clinical immunology, 2012-01, Vol.129 (1), p.251-254.e6

2012

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Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pediatrics (Evanston), 2021-01, Vol.147 (1), p.1

2021

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Pulmonary Vasculopathy Associated with FIGF Gene Mutation

The American journal of pathology, 2017-01, Vol.187 (1), p.25-32

2017

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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.435-440

2016

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Progressive Postnatal Pansynostosis

The Cleft palate-craniofacial journal, 2015-11, Vol.52 (6), p.751-757

2015

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Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1747-1757

2015

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Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

The Journal of pediatrics, 2013-01, Vol.162 (1), p.202-204.e1

2013

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Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview

American journal of obstetrics and gynecology, 2007-07, Vol.197 (1), p.12-25

2007

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Bupropion in pregnancy and the prevalence of congenital malformations

Pharmacoepidemiology and drug safety, 2007-05, Vol.16 (5), p.474-484

2007

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Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1400-1405

2015

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Patients with Ehlers Danlos syndrome and CRPS: A possible association?

Pain (Amsterdam), 2006-07, Vol.123 (1), p.204-209

2006

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Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.3122-3124

2011

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ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

Human mutation, 2012-12, Vol.33 (12), p.1626-1629

2012

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The Frequency of Palatal Anomalies in Saethre-Chotzen Syndrome

The Cleft palate-craniofacial journal, 2009-05, Vol.46 (3), p.280-284

2009

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Comprehensive evaluation of the child with intellectual disability or global developmental delays

Pediatrics (Evanston), 2014-09, Vol.134 (3), p.e903

2014

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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

P321: Atypical presentation of vascular Ehlers-Danlos syndrome (vEDS)

Prenatal and Postnatal Genetic Testing: Why, How, and When?

Recent developments in fetal alcohol spectrum disorder

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pulmonary Vasculopathy Associated with FIGF Gene Mutation

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

Progressive Postnatal Pansynostosis

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview

Bupropion in pregnancy and the prevalence of congenital malformations

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

Patients with Ehlers Danlos syndrome and CRPS: A possible association?

Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

The Frequency of Palatal Anomalies in Saethre-Chotzen Syndrome

Comprehensive evaluation of the child with intellectual disability or global developmental delays

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