Research Publications
Research Publications
- Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.; Journal of the American Heart Association. 2024 Oct 18.
- Bardet-biedl syndrome with chorioretinal coloboma: a case series and review of literature.; Ophthalmic genetics. 2024 Oct 15.
- The Robison D. Harley, MD Childhood Glaucoma Research Network International Pediatric Glaucoma Registry: The First 872 Cases.; Ophthalmology. Glaucoma. 2024 Oct 08.
- Development and Validation of a Prognostic Clinical Risk Score for Subsequent Atopic Dermatitis Risk.; Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology. 2024 Sep 24.
- Does COVID-19 cause retinal hemorrhage?; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2024 Sep 23.
- Ophthalmic findings in Alström syndrome.; Ophthalmic genetics. 2024 Sep 12.
- Clinical outcomes in paediatric tubulointerstitial nephritis and uveitis syndrome (TINU).; Eye (London, England). 2024 Jul 31.
- Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.; Genetics in medicine : official journal of the American College of Medical Genetics. 2024 Jul 17.
- DEVELOPMENT OF A PREDICTIVE MODEL FOR PEDIATRIC ATOPIC DERMATITIS - A RETROSPECTIVE CROSS-SECTIONAL NATIONWIDE DATABASE STUDY.; Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology. 2024 Jun 18.
- Role of CAMK2D in neurodevelopment and associated conditions.; American journal of human genetics; Vol 111(2), pp. 364-382. 2024 Jan 24.
- TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES.; Retinal cases & brief reports; Vol 17(6), pp. 714-718. 2023 Nov 01.
- Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.; Molecular vision; Vol 29, pp. 217-233. 2023 Oct 25.
- Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.; Cornea. 2023 Sep 15.
- Genetics of the anterior segment dysgenesis.; Taiwan journal of ophthalmology; Vol 13(4), pp. 500-504. 2023 Jul 18.
- SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.; American journal of medical genetics. Part A. 2023 May 10.
- Changes in nascent chromatin structure regulate activation of the pro-fibrotic transcriptome and myofibroblast emergence in organ fibrosis.; iScience; Vol 26(5), pp. 106570. 2023 Apr 06.
- A study of disparities in access to genetic care pre- and post-pandemic.; American journal of medical genetics. Part A. 2023 Mar 27.
- Ophthalmic imaging in abusive head trauma.; Child abuse & neglect; Vol 139, pp. 106106. 2023 Mar 01.
- Genetic testing: Getting it right.; Oman journal of ophthalmology; Vol 16(1), pp. 1-3. 2023 Feb 21.
- Clinical outcomes in children and adolescents referred for increased cup:disk ratio at a tertiary referral center.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2023 Feb 15.
- Retinal hemorrhage variation in inertial versus contact head injuries.; Child abuse & neglect; Vol 149, pp. 106606. 2023 Jan 21.
- Use of the World Health Organization primary eye care protocol to investigate the ocular health status of school children in Rwanda.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2023 Jan 13.
- Deep Learning Approach for Differentiating Etiologies of Pediatric Retinal Hemorrhages: A Multicenter Study.; International journal of molecular sciences; Vol 24(20). 2023 Jan 12.
- Mutations in AGBL5 associated with Retinitis pigmentosa.; Ophthalmic genetics. 2023 Jan 11.
- Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.; American journal of medical genetics. Part A. 2023 Jan 03.
- Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma.; Pediatric hematology and oncology. 2022 Sep 20.
- Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.; JAMA ophthalmology. 2022 Aug 11.
- Axenfeld-Rieger syndrome: more than meets the eye.; Journal of medical genetics. 2022 Jul 26.
- Experiences of genetic testing among individuals with retinitis pigmentosa.; Ophthalmic genetics. 2022 Jul 07.
- Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.; JIMD reports; Vol 63(4), pp. 309-315. 2022 May 22.
- The risk of uveitis due to prostaglandin analogs in pediatric glaucoma.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2022 May 09.
- Retinal hemorrhage after pediatric neurosurgical procedures.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2022 Mar 15.
- Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.; Pediatric hematology and oncology; Vol 39(8), pp. 747-754. 2022 Mar 11.
- Evolution of germline TP53 variant classification in children with cancer.; Cancer genetics; Vol 264-265, pp. 29-32. 2022 Mar 03.
- Congenital primary aphakia.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2022 Jan 17.
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.; NPJ genomic medicine; Vol 6(1), pp. 104. 2021 Dec 07.
- Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.; Genetics in medicine : official journal of the American College of Medical Genetics. 2021 Nov 30.
- Novel myeloperoxidase-derived HLA-A2-restricted peptides as therapeutic targets against myeloid leukemia.; Cytotherapy; Vol 23(9), pp. 793-798. 2021 Jun 30.
- Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.; Human molecular genetics. 2021 May 27.
- A review on clotting disorders and retinal hemorrhages: Can they mimic abuse?; Child abuse & neglect; Vol 118. 2021 May 25.
- A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.; American journal of medical genetics. Part A. 2021 May 05.
- Falsely high rebound tonometry.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2021 Apr 23.
- Persistent epithelial defect after photorefractive keratectomy in a patient with autism.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2021 Apr 22.
- Optic Nerve Aplasia.; Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 2021 Apr 14.
- CNGB1-related rod-cone dystrophy: a mutation review and update.; Human mutation. 2021 Apr 12.
- Resident immune cells of the avascular lens: Mediators of the injury and fibrotic response of the lens.; FASEB journal : official publication of the Federation of American Societies for Experimental Biology; Vol 35(4). 2021 Apr.
- Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.; Pediatric neurology; Vol 119. 2021 Mar 05.
- Reducing the Costs of an Eye Care Adherence Program for Underserved Children Referred Through Inner-City Vision Screenings.; American journal of ophthalmology. 2021 Feb 11.
- Retinal hemorrhage and bleeding disorders in children: A review.; Child abuse & neglect; Vol 112. 2021 Jan 02.
- Stargardt misdiagnosis: How ocular genetics helps.; American journal of medical genetics. Part A. 2020 Dec 24.
- Early Experience with Netarsudil in Pediatric Patients: A Retrospective Case Series.; Ophthalmology. Glaucoma. 2020 Oct 13.
- Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.; Molecular cytogenetics; Vol 13(1). 2020 Sep 03.
- Referral outcomes from a vision screening program for school-aged children.; Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. 2020 Aug 06.
- Treatment of Port Wine Birthmarks in Sturge-Weber Syndrome Using Topical Timolol.; Journal of pediatric ophthalmology and strabismus; Vol 58. 2020 Feb 22.
- Impact of eyeglasses on academic performance in primary school children.; Canadian journal of ophthalmology. Journal canadien d'ophtalmologie; Vol 55(1). 2020 Feb.
- PATHOLOGY OF PERIMACULAR FOLDS DUE TO VITREORETINAL TRACTION IN ABUSIVE HEAD TRAUMA.; Retina (Philadelphia, Pa.); Vol 39(11). 2019 Nov.
- Ocular hypotony: A comprehensive review.; Survey of ophthalmology; Vol 64(5). 2019 Sep.
- Central Corneal Thickness in Childhood Cataract.; Cornea; Vol 38(8). 2019 Aug.
- Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 23(4). 2019 Aug.
- Optical Coherence Tomography in Knobloch Syndrome.; Ophthalmic surgery, lasers & imaging retina; Vol 50(8). 2019 Aug 01.
- Association of Preoperative Disclosure of Resident Roles With Informed Consent for Cataract Surgery in a Teaching Program.; JAMA ophthalmology. 2019 Jul 25.
- Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.; Pediatric neurology; Vol 96. 2019 Jul.
- Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces.; Ophthalmic genetics; Vol 40(3). 2019 Jun.
- Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 23(3). 2019 Jun.
- Patient with mixed-phenotype acute leukemia with CBFB rearrangement.; Leukemia & lymphoma; Vol 60(11), pp. 2829-2831. 2019 Apr 23.
- An update of ophthalmic management in craniosynostosis.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 23(2). 2019 Apr.
- Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes.; Pediatrics; Vol 143(2). 2019 Feb.
- Ophthalmologic findings in the Cornelia de Lange syndrome.; Ophthalmic genetics; Vol 40(1). 2019 Feb.
- Ophthalmic manifestations associated with RARB mutations.; Clinical dysmorphology; Vol 28(1). 2019 Jan.
- Robert Reinecke obituary; J AAPOS; Vol 22(6). 2018 Jan 01.
- New classification system for pediatric glaucoma: implications for clinical care and a research registry.; Current opinion in ophthalmology; Vol 29(5). 2018 Sep.
- Ocular manifestations of Emanuel syndrome.; American journal of medical genetics. Part A; Vol 176(9). 2018 Sep.
- Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.; Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Aug 30.
- Ocular manifestations of PACS1 mutation.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(4). 2018 Aug.
- Efficacy and outcomes of a summer-based pediatric vision screening program.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(4). 2018 Aug.
- The Eye Examination in the Evaluation of Child Abuse.; Pediatrics; Vol 142(2). 2018 Aug.
- Prevalence of uncorrected refractive errors among school-age children in the School District of Philadelphia.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(3). 2018 Jun.
- Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.; Ophthalmic genetics; Vol 39(3). 2018 Jun.
- Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.; The Journal of clinical investigation; Vol 128(1). 2018 Jan 02.
- Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing.; European journal of ophthalmology; Vol 28(1). 2018 Jan.
- Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.; Nature reviews. Genetics; Vol 19(10). 2018 Jan.
- Traumatic macular retinoschisis in infants and children.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(6). 2018 Jan.
- Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.; Current opinion in cardiology; Vol 33(1), pp. 78-86. 2018 Jan.
- Expanding the neurodevelopmental phenotype of PURA syndrome.; American journal of medical genetics. Part A. 2017 Nov 17.
- Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.; Human molecular genetics; Vol 26(18). 2017 Sep 15.
- Spectral-domain optical coherence tomography findings in Alström syndrome.; Ophthalmic genetics; Vol 38(5). 2017 Sep.
- Effect of anesthesia on intraocular pressure measurement in children.; Survey of ophthalmology; Vol 62(5). 2017 Sep.
- The SBU report: a different view.; Acta paediatrica (Oslo, Norway : 1992); Vol 106(7). 2017 Jul.
- Autoimmune retinopathy associated with systemic lupus erythematosus: A diagnostic dilemma.; Taiwan journal of ophthalmology; Vol 7(3). 2017 Jul.
- Pediatric ophthalmology and strabismus fellowship Match outcomes, 2000-2015.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 21(3). 2017 Jun.
- Giant Ocular Horn Occurring in a 10-Year-Old Female.; Ophthalmic plastic and reconstructive surgery; Vol 33(3S Suppl 1). 2017 May.
- Marfan Syndrome: Staging Nonsurgical vs Surgical Treatments in Children With Subluxated Lenses and Refractive Problems.; Journal of pediatric ophthalmology and strabismus; Vol 54(2). 2017 Mar 01.
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.; Nature genetics; Vol 49(1). 2017 Jan.
- De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.; American journal of human genetics; Vol 99(4). 2016 Oct 06.
- Anterior Chamber Pathology in Alagille Syndrome.; Ocular oncology and pathology; Vol 2(4). 2016 Oct.
- Ethical considerations in gene therapy.; Ophthalmic genetics; Vol 37(3). 2016 Sep.
- A novel TCR-like CAR with specificity for PR1/HLA-A2 effectively targets myeloid leukemia in vitro when expressed in human adult peripheral blood and cord blood T cells.; Cytotherapy; Vol 18(8), pp. 985-994. 2016 Jun 02.
- A culinary laboratory for nutrition education.; The clinical teacher; Vol 13(3). 2016 Jun.
- Teaching ethics to ophthalmology residents: the Halifax Symposium.; Canadian journal of ophthalmology. Journal canadien d'ophtalmologie; Vol 51(3). 2016 Jun.
- Use of the Delphi process in paediatric cataract management.; The British journal of ophthalmology; Vol 100(5). 2016 May.
- Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.; Pediatric neurology; Vol 58. 2016 May.
- How genetics works? An illustrative case report.; Indian journal of ophthalmology; Vol 64(5). 2016 May.
- Retinal hemorrhage: science versus speculation.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 20(2). 2016 Apr.
- Technique for Tube Extender Implantation.; Journal of glaucoma; Vol 25(3). 2016 Mar.
- De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.; Neurogenetics; Vol 17(1). 2016 Jan.
- A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia.; HeartRhythm case reports; Vol 2(1). 2016 Jan.
- Organophosphate retinopathy.; Oman journal of ophthalmology; Vol 9(1). 2016 Jan.
- Improving access to vision screening in urban Philadelphia elementary schools.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 20(5). 2016 Jan.
- Acute Bilateral Leber Hereditary Optic Neuropathy.; Journal of pediatric ophthalmology and strabismus; Vol 52(4). 2015 Jul.
- Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.; Ophthalmic genetics; Vol 36(2). 2015 Jun.
- Cost and effectiveness of an eye care adherence program for Philadelphia children with significant visual impairment.; Population health management; Vol 18(3). 2015 Jun.
- Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.; American journal of medical genetics. Part A; Vol 167(6). 2015 Jun.
- Peters anomaly in cri-du-chat syndrome.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 19(3). 2015 Jun.
- Outcomes of an inner-city vision outreach program: give kids sight day.; JAMA ophthalmology; Vol 133(5). 2015 May.
- Anirdia-like phenotype caused by 6p25 dosage aberrations.; American journal of medical genetics. Part A; Vol 167A(3). 2015 Mar.
- The Eagles Eye Mobile: assessing its ability to deliver eye care in a high-risk community.; Journal of pediatric ophthalmology and strabismus; Vol 52(2). 2015 Mar.
- Sector iris hemangioma in association with diffuse choroidal hemangioma.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 19(1). 2015 Feb.
- Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.; Ophthalmic genetics; Vol 36(3). 2015.
- Whole exome sequence analysis of Peters anomaly.; Human genetics; Vol 133(12). 2014 Dec.
- Unusual retinal abnormalities in sisters with tetralogy of Fallot.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 18(6). 2014 Dec.
- Retinal hemorrhages: what are we talking about?; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 18(6). 2014 Dec.
- Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.; American journal of human genetics; Vol 95(5). 2014 Nov 06.
- In memoriam Maria Musarella.; Ophthalmic genetics; Vol 35(3). 2014 Sep.
- Should patients with ocular genetic disorders have genetic testing?; Current opinion in ophthalmology; Vol 25(5). 2014 Sep.
- Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.; JAMA; Vol 312(7). 2014 Aug 20.
- Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.; American journal of medical genetics. Part A; Vol 164A(6). 2014 Jun.
- Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.; Molecular genetics and metabolism; Vol 112(1). 2014 May.
- Anterior lentiplane associated with posterior lenticonus and microcornea.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 18(2). 2014 Apr.
- Red reflex: Procedures and assessments video series.; Canadian family physician Medecin de famille canadien; Vol 60(3). 2014 Mar.
- Ocular manifestations of 22q11.2 microduplication.; Ophthalmology; Vol 121(1). 2014 Jan.
- Physician use of white coats in pediatric ophthalmology.; Journal of pediatric ophthalmology and strabismus; Vol 51(1). 2014 Jan.
- Retinal hemorrhage in abusive head trauma: finding a common language.; Transactions of the American Ophthalmological Society; Vol 112. 2014.
- Pediatric glaucoma terminology.; American journal of medical genetics. Part A; Vol 161A(12). 2013 Dec.
- Reply: To PMID 23622446.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 17(6). 2013 Dec.
- Lyonization in ophthalmology.; Current opinion in ophthalmology; Vol 24(5). 2013 Sep.
- Evaluation and management of nonaccidental head trauma.; Journal of pediatric ophthalmology and strabismus; Vol 50(5). 2013 Sep.
- Characteristics of femur fractures in ambulatory young children.; Emergency medicine journal : EMJ; Vol 30(9). 2013 Sep.
- Spontaneously resolving macular cyst in an infant.; Oman journal of ophthalmology; Vol 6(3). 2013 Sep.
- Patterns of retinal hemorrhage associated with increased intracranial pressure in children.; Pediatrics; Vol 132(2). 2013 Aug.
- No evidence for locus heterogeneity in Knobloch syndrome.; Journal of medical genetics; Vol 50(8). 2013 Aug.
- Retinal hemorrhage after cardiopulmonary resuscitation with chest compressions.; The American journal of forensic medicine and pathology; Vol 34(2). 2013 Jun.
- The challenges to ophthalmologic follow-up care in at-risk pediatric populations.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 17(2). 2013 Apr.
- Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.; European journal of medical genetics; Vol 56(2). 2013 Feb.
- GRM7 variants associated with age-related hearing loss based on auditory perception.; Hearing research; Vol 294(1-2). 2012 Dec.
- Ocular anomalies in an infant with Klinefelter Syndrome.; Ophthalmic genetics; Vol 33(4). 2012 Dec.
- PITX2 and FOXC1 spectrum of mutations in ocular syndromes.; European journal of human genetics : EJHG; Vol 20(12). 2012 Dec.
- Genetics for the ophthalmologist.; Oman journal of ophthalmology; Vol 5(3). 2012 Sep.
- Epiretinal membrane and retinal pigment epithelial lesions in a young child and detection of de novo APC mutation.; Archives of ophthalmology (Chicago, Ill. : 1960); Vol 130(8). 2012 Aug.
- Vertically oval corneas in a child with holoprosencephaly.; Journal of pediatric ophthalmology and strabismus; Vol 49 Online. 2012 Jul 17.
- Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.; American journal of human genetics; Vol 91(1). 2012 Jul 13.