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The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature

Human Genetics, 2016-08, Vol.135 (8), p.841-850

2016

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Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

Genetics in medicine, 2015-02, Vol.17 (2), p.149-157

2015

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Place-provider-matrix of bystander cardiopulmonary resuscitation and outcomes of out-of-hospital cardiac arrest: A nationwide observational cross-sectional analysis

PloS one, 2020-05, Vol.15 (5), p.e0232999-e0232999

2020

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RARE OR RARELY DIAGNOSED? TREATABLE GENETIC SYNDROMES IN ADULT NEUROPSYCHIATRIC PATIENTS

European neuropsychopharmacology, 2023-10, Vol.75, p.S3-S3

So, Joyce

2023

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The Diagnostic Landscape of Adult Neurogenetic Disorders

Biology (Basel, Switzerland), 2023-11, Vol.12 (12), p.1459

2023

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Learning From a Massive Open Online COVID-19 Vaccination Training Experience: Survey Study

JMIR public health and surveillance, 2021-12, Vol.7 (12), p.e33455-e33455

2021

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Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

Journal of human genetics, 2016-10, Vol.61 (10), p.867-872

2016

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Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2098-2102

2015

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Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

Human genetics, 2014-08, Vol.133 (8), p.975-984

2014

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An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum

Clinical genetics, 2022-04, Vol.101 (4), p.472-473

2022

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Effect of real-time feedback during cardiopulmonary resuscitation training on quality of performances: A prospective cluster-randomized trial

Hong Kong journal of emergency medicine, 2020-07, Vol.27 (4), p.187-196

2020

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Fractionated Carbon Dioxide Laser for the Treatment of Vulvar Lichen Sclerosus: A Randomized Controlled Trial

Obstetrics and gynecology (New York. 1953), 2021-06, Vol.137 (6), p.979-987

2021

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Point mutations in GLI3 lead to misregulation of its subcellular localization

PloS one, 2009-10, Vol.4 (10), p.e7471-e7471

2009

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Changes in the healthcare utilization after establishment of emergency centre in Yaoundé, Cameroon: A before and after cross-sectional survey analysis

PloS one, 2019-02, Vol.14 (2), p.e0211777-e0211777

2019

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Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants

American journal of medical genetics. Part A, 2024-08, p.e63846

2024

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When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63609-n/a

2024

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Psychiatric disorders in Ehlers–Danlos syndrome are frequent, diverse and strongly associated with pain

Rheumatology international, 2016-03, Vol.36 (3), p.341-348

2016

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Mothers' acceptability of using novel technology with video and audio recording during newborn resuscitation: A cross-sectional survey

PLOS digital health, 2024-04, Vol.3 (4), p.e0000471-e0000471

2024

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Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum

Psychiatric genetics, 2019-06, Vol.29 (3), p.91-94

2019

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The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor

The journal of nervous and mental disease, 2019-03, Vol.207 (3), p.145-151

2019

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"Needed but lacked": Exploring demand- and supply-side determinants of access to cardiopulmonary resuscitation training for the lay public in China

Frontiers in public health, 2023-04, Vol.11, p.1164744-1164744

2023

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S191. INVESTIGATION OF THE PREVALENCE OF COPY NUMBER VARIANT SYNDROMES IN A LARGE SCHIZOPHRENIA COHORT

Schizophrenia bulletin, 2018-04, Vol.44 (suppl_1), p.S399-S400

2018

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F195. ENRICHMENT OF PATHOGENIC VARIANTS ASSOCIATED WITH TREATABLE GENETIC DISEASES IN LARGE SCHIZOPHRENIA, BIPOLAR AND DEPRESSION COHORTS

Schizophrenia bulletin, 2018-04, Vol.44 (suppl_1), p.S296-S297

2018

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PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Human mutation, 2013-08, Vol.34 (8), p.1057-1065

2013

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Usability, acceptability and feasibility of a novel technology with visual guidance with video and audio recording during newborn resuscitation: a pilot study

BMJ health & care informatics, 2022-12, Vol.29 (1), p.e100667

2022

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The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

Place-provider-matrix of bystander cardiopulmonary resuscitation and outcomes of out-of-hospital cardiac arrest: A nationwide observational cross-sectional analysis

RARE OR RARELY DIAGNOSED? TREATABLE GENETIC SYNDROMES IN ADULT NEUROPSYCHIATRIC PATIENTS

The Diagnostic Landscape of Adult Neurogenetic Disorders

Learning From a Massive Open Online COVID-19 Vaccination Training Experience: Survey Study

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum

Effect of real-time feedback during cardiopulmonary resuscitation training on quality of performances: A prospective cluster-randomized trial

Fractionated Carbon Dioxide Laser for the Treatment of Vulvar Lichen Sclerosus: A Randomized Controlled Trial

Point mutations in GLI3 lead to misregulation of its subcellular localization

Changes in the healthcare utilization after establishment of emergency centre in Yaoundé, Cameroon: A before and after cross-sectional survey analysis

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Psychiatric disorders in Ehlers–Danlos syndrome are frequent, diverse and strongly associated with pain

Mothers' acceptability of using novel technology with video and audio recording during newborn resuscitation: A cross-sectional survey

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum

The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor

"Needed but lacked": Exploring demand- and supply-side determinants of access to cardiopulmonary resuscitation training for the lay public in China

S191. INVESTIGATION OF THE PREVALENCE OF COPY NUMBER VARIANT SYNDROMES IN A LARGE SCHIZOPHRENIA COHORT

F195. ENRICHMENT OF PATHOGENIC VARIANTS ASSOCIATED WITH TREATABLE GENETIC DISEASES IN LARGE SCHIZOPHRENIA, BIPOLAR AND DEPRESSION COHORTS

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Usability, acceptability and feasibility of a novel technology with visual guidance with video and audio recording during newborn resuscitation: a pilot study

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