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Development and Validation of a Measure of Birth-Related PTSD for Fathers and Birth Partners: The City Birth Trauma Scale (Partner Version)

Frontiers in psychology, 2021-03, Vol.12, p.596779-596779

2021

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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Human genetics, 2017-04, Vol.136 (4), p.409-420

2017

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Variegation of autism related traits across seven neurogenetic disorders

Translational psychiatry, 2022-04, Vol.12 (1), p.149-149, Article 149

2022

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

PloS one, 2011-08, Vol.6 (8), p.e22861

2011

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Investigation and verification of a bioluminescent biosensor for the quantitation of ara-CTP generation: A biomarker for cytosine arabinoside sensitivity in acute myeloid leukaemia

Biosensors & bioelectronics, 2014-02, Vol.52, p.345-353

2014

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Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome

Journal of autism and developmental disorders, 2006-05, Vol.36 (4), p.541-552

2006

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Auditory Phenotype of Smith-Magenis Syndrome

Journal of speech, language, and hearing research, 2017-04, Vol.60 (4), p.1076-1087

2017

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Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome

Pediatric neurology, 2009-10, Vol.41 (4), p.250-258

2009

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Regarding Statement from FDA Commissioner on New FDA Actions to Keep Consumers Safe from the Harmful Effects of Sun Exposure, and Ensure the Long-Term Safety and Benefits of Sunscreens

The Journal of clinical and aesthetic dermatology, 2018-07, Vol.11 (7), p.18-18

Smith, Ann M

2018

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Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene

The American journal of pathology, 2009-02, Vol.174 (2), p.534-540

2009

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Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

Pediatric neurology, 2006-05, Vol.34 (5), p.337-350

2006

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Visual Outcomes in Presumed Congenital Foveal Toxoplasmosis

American journal of ophthalmology, 2020-06, Vol.214, p.9-13

2020

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Discriminating Power of Localized Three-Dimensional Facial Morphology

American journal of human genetics, 2005-12, Vol.77 (6), p.999-1010

2005

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Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia

Ophthalmic plastic and reconstructive surgery, 2019-07, Vol.35 (4), p.374-377

2019

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Etiology and Management of Allergic Eyelid Dermatitis

Ophthalmic plastic and reconstructive surgery, 2017-07, Vol.33 (4), p.248-250

2017

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Opposite effects on facial morphology due to gene dosage sensitivity

Human genetics, 2014-09, Vol.133 (9), p.1117-1125

2014

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.161-170

2014

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Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2383-2388

2016

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Characterisation of cultivars of Jamaican ginger (Zingiber officinale Roscoe) by HPTLC and HPLC

Food chemistry, 2012-04, Vol.131 (4), p.1517-1522

2012

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Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome

The Laryngoscope, 2011-10, Vol.121 (10), p.2250-2255

2011

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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

American journal of human genetics, 2020-09, Vol.107 (3), p.564-574

2020

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Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1382-1391

2009

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Visual outcomes in congenital foveal toxoplasmosis

Journal of AAPOS, 2015-08, Vol.19 (4), p.e20-e21

2015

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New developments in Smith-Magenis syndrome (del 17p11.2)

Current opinion in neurology, 2007-04, Vol.20 (2), p.125-134

2007

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Analysis of the Sensory Profile in Children with Smith-Magenis Syndrome

Physical & occupational therapy in pediatrics, 2012-02, Vol.32 (1), p.48-65

2012

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Development and Validation of a Measure of Birth-Related PTSD for Fathers and Birth Partners: The City Birth Trauma Scale (Partner Version)

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Variegation of autism related traits across seven neurogenetic disorders

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

Investigation and verification of a bioluminescent biosensor for the quantitation of ara-CTP generation: A biomarker for cytosine arabinoside sensitivity in acute myeloid leukaemia

Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome

Auditory Phenotype of Smith-Magenis Syndrome

Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome

Regarding Statement from FDA Commissioner on New FDA Actions to Keep Consumers Safe from the Harmful Effects of Sun Exposure, and Ensure the Long-Term Safety and Benefits of Sunscreens

Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene

Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

Visual Outcomes in Presumed Congenital Foveal Toxoplasmosis

Discriminating Power of Localized Three-Dimensional Facial Morphology

Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia

Etiology and Management of Allergic Eyelid Dermatitis

Opposite effects on facial morphology due to gene dosage sensitivity

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

Characterisation of cultivars of Jamaican ginger (Zingiber officinale Roscoe) by HPTLC and HPLC

Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

Visual outcomes in congenital foveal toxoplasmosis

New developments in Smith-Magenis syndrome (del 17p11.2)

Analysis of the Sensory Profile in Children with Smith-Magenis Syndrome

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