PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Marta Gîrdea, Sergiu Dumitriu, Marc Fiume, +10

Human Mutation

Patient SelectionGenetic EpidemiologySemantic WebData ScienceEntire Ontology +17

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Sébastien Chénier, Grace Yoon, Bob Argiropoulos, +15

Journal of Neurodevelopmental Disorders

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, +57

Human Mutation

Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation +23

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

Samantha Hershenfeld, Syed Wasim, Vanda McNiven, +4

Rheumatology International

Clinical DisordersMental DisordersPain DisordersPain SyndromePsychiatric Disease +12

Mild phenotypes in a series of patients with Opitz GBBB syndrome with <i>MID1</i> mutations

Joyce So, Vanessa Suckow, Zofia Kijas, +23

American Journal of Medical Genetics Part A

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +22

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

Bita Hashemi, Anne S. Bassett, David Chitayat, +13

American Journal of Medical Genetics Part A

Further EvidenceBp1-bp2 RegionPediatric HematologyGenetic DisorderGenetics +13

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, +13

Journal of Medical Genetics

Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a retrospective study

Syed Wasim, Jessica S. Suddaby, Manasi Parikh, +4

Rheumatology International

Mental DisordersHypermobility Spectrum DisordersPain DisordersFunctional Gastrointestinal DisorderHealth Sciences +12

Encoding of human basic and glycosylated proline-rich proteins by the PRB gene complex and proteolytic processing of their precursor proteins

Marlene Stubbs, John Chan, Anita Y. M. Kwan, +5

Archives of Oral Biology

Protein FunctionProtein ExpressionBiochemistryPrb Gene ComplexProtein Folding +8

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

Asif Mir, Kumudesh Sritharan, Kirti Mittal, +14

Human Genetics

Intellectual ImpairmentDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +5