2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes
Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.Peer-Reviewed Original ResearchSyndromic forms of short statureFamilies of Pakistani originDisease-causing gene variantsSyndromic formsWhole-exome sequencingSequence variantsHomozygosity mappingIdentified genesExome sequencingAutosomal dominant mannerSanger sequencingXRCC4 geneMutation spectrumGenetic etiologyGenetic investigationsLethal defectShort statureGene variantsGenesDominant mannerReduced growthShort stature syndromeHeterogeneous group of disordersSequenceGroup of disorders
2023
Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit
Chandran M, Alves I, Carpenter T, Davis M, Hsiao E, Petryk A, Semler J, Sleiman M. Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit. Osteoporosis International 2023, 34: 1301-1310. PMID: 37294334, PMCID: PMC10382343, DOI: 10.1007/s00198-023-06791-x.Peer-Reviewed Original ResearchConceptsCare pathwaysRare bone diseasesImprove care pathwaysImprove patient outcomesObstacles to diagnosisCare providersHealthcare professionalsExpert carePatient communityUnmet needsImprove awarenessPatient outcomesDiagnostic delayAction planCareBone diseaseCommunication gapHeterogeneous group of disordersVirtual meetingsGroup of disordersOutcomesPeopleHealthcareInformation exchangeSpecial treatment
2014
Chapter 6 Pathophysiology of Cardiomyopathies
Saini H, Tabtabai S, Stone J, Ellinor P. Chapter 6 Pathophysiology of Cardiomyopathies. 2014, 101-119. DOI: 10.1016/b978-0-12-405206-2.00006-5.Peer-Reviewed Original ResearchHeterogeneous group of disordersMolecular pathwaysCongestive heart failureLife-threatening arrhythmiasGroup of disordersIschemic heart diseaseMyocardial dysfunctionHeart failureTherapeutic modalitiesClinical symptomsCardiomyopathyMolecular basisGenetic mutationsSudden deathExtrinsic insultsHeart diseaseHeterogeneous groupCardiovascular conditionsDisease mechanismsFamily studiesDisease
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