S. Shankar

发表

Costello syndrome: Clinical phenotype, genotype, and management guidelines

D. Schwartz, K. Gripp, W. Dobyns, 2019, American journal of medical genetics. Part A.

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

S. Kingsmore, R. H. Kaplan, Bryce Waldman, 2021, American journal of human genetics.

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

E. I. Pierpont, A. Roberts, G. Neri, 2014, Pediatrics.

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

N. Newman, M. Hegde, P. Yu-Wai-Man, 2011, Ophthalmology.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Hatice Duzkale, Hope Northrup, R. Lewis, 2006, Investigative ophthalmology & visual science.

No association between variations in the WDR36 gene and primary open-angle glaucoma.

Young H. Kwon, V. Sheffield, D. Mackey, 2007, Archives of ophthalmology.

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

M. Hegde, A. Ganguly, R. Mao, 2021, Genetics in Medicine.

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia

A. Slavotinek, K. Vargervik, S. Shankar, 2010, American journal of medical genetics. Part A.

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

K. Conneely, E. Stone, S. Daiger, 2016, Investigative ophthalmology & visual science.

Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa.

P. Chang, O. Goker-Alpan, Y. Lien, 2015, JIMD reports.

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

F. Pieruzzi, C. Wanner, F. Cecchi, 2018, Molecular genetics & genomic medicine.

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

A. Fellgiebel, R. Hopkin, B. Bénichou, 2015, PloS one.

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature

K. Coleman, B. Loeys, B. Kogon, 2013, European Journal of Pediatrics.

Retinal dystrophies: A look beyond the eyes

S. Shankar, A. Moshiri, G. Yiu, 2022, American journal of ophthalmology case reports.

Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell–Silver syndrome

M. K. Rudd, Z. Dai, Yuan Xue, 2015, American journal of medical genetics. Part A.

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.

O. Goker-Alpan, N. Belmatoug, P. Deegan, 2018, Blood cells, molecules & diseases.

Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.

I. Olivotto, Damara N. Ortiz, K. Nicholls, 2020, Molecular genetics and metabolism.

Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8

C. Murphy, Jiong Yan, D. Imai, 2021, Annals of translational medicine.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

A. Fellgiebel, R. Hopkin, B. Bénichou, 2019, Molecular genetics and metabolism.

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

D. Lockhart, J. Flanagan, C. Barlow, 2015, PloS one.

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

R. Schiffmann, P. Chang, N. Longo, 2016, Drug design, development and therapy.

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

Jiong Yan, E. Wartchow, S. Shankar, 2016, American journal of ophthalmology case reports.

Fabry disease in infancy and early childhood: a systematic literature review

R. Hopkin, W. Wilcox, Andrea M. Atherton, 2014, Genetics in Medicine.

The evolving role of genetics in ophthalmology

B. Brooks, A. Drack, S. Shankar, 2021, Ophthalmic genetics.

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.

Tina Rutar, E. Stone, J. Duncan, 2010, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results

S. Packman, A. Mehta, M. Balwani, 2021, American journal of hematology.

Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome.

J. Visootsak, S. Shankar, H. Mroczkowski, 2013, Annals of paediatric rheumatology.

Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.

M. O'hara, S. Shankar, Mustafa Safi, 2019, Journal of pediatric ophthalmology and strabismus.

Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

E. Feingold, D. Finegold, S. Shankar, 2015, Orphanet Journal of Rare Diseases.

Neurocutaneous Syndromes (Phakomatoses)

J. Humberson, S. Shankar, N. Couser, 2019, Ophthalmic Genetic Diseases.

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India

S. Kapoor, R. Hagerman, A. Sachdeva, 2019, Indian Pediatrics.

Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

S. Packman, H. Baris, A. Mehta, 2017, American journal of hematology.

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease

Laurie D. Smith, T. Hangartner, J. Charrow, 2015, American journal of hematology.

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

B. Korf, E. I. Pierpont, B. Gelb, 2022, American journal of medical genetics. Part A.

Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome

F. Tassone, R. Hagerman, S. Shankar, 2022, BMJ Case Reports.

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.

K. Lim, J. Wozniak, J. Eisengart, 2015, Molecular genetics and metabolism.

Hereditary retinal and choroidal dystrophies

S. Shankar, Suma P. Shankar, 2013 .

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.

S. Packman, H. Baris, A. Mehta, 2015, JAMA.

Phase 3 study of migalastat HCl for Fabry disease: Stage 1 results

Salim Janmohamed, K. Nicholls, S. Sitaraman, 2013 .

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

R. Schiffmann, R. Colvin, D. Bichet, 2018, Orphanet Journal of Rare Diseases.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

D. Lockhart, R. Schiffmann, C. Barlow, 2016, Journal of Medical Genetics.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

D. Lockhart, S. Packman, R. Schiffmann, 2016, The New England journal of medicine.

Prioritizing Regions of Candidate Genes for Mutation Screening Running title : Prioritizing Regions of Candidate Genes

T. Casavant, T. Scheetz, T. Braun, 2004 .

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

V. Sheffield, E. Stone, R. Honkanen, 2007, American journal of ophthalmology.

Genetic factors modifying clinical expression of autosomal dominant RP.

E. Stone, S. Daiger, S. Bowne, 2006, Advances in experimental medicine and biology.

Prioritizing regions of candidate genes for efficient mutation screening

Brian O'Leary, V. Sheffield, T. Casavant, 2006, Human mutation.

Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development

Prabhu R. Shankar, K. Rauen, T. Young, 2021, Ophthalmic genetics.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Laurie D. Smith, T. Hangartner, J. Charrow, 2016, Molecular genetics and metabolism.

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

R. Mao, S. Shankar, D. Quigley, 2022, Molecular genetics & genomic medicine.

Enzyme replacement therapy with taliglucerase alfa: 36‐month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase

J. Szer, G. Pastores, A. Zimran, 2016, American journal of hematology.

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

J. Peragallo, M. S. van der Knaap, B. Soares, 2018, Ophthalmic genetics.

Reported outcomes of 453 pregnancies in patients with Gaucher disease: an analysis from the Gaucher Outcome Survey

O. Goker-Alpan, N. Belmatoug, P. Deegan, 2017 .

Plant cell-expressed recombinant glucocerebrosidase: Taliglucerase alfa as therapy for Gaucher disease in adults patients previously treated with imiglucerase: 24-month results

J. Szer, T. Cox, G. Pastores, 2013 .

Eye findings in Fabry disease and correlation with disease severity

Jiong Yan, Dawn A. Laney, S. Gillespie, 2016 .

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

B. Byrne, Y. Chien, D. Stockton, 2014, Journal of neuromuscular diseases.

Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two‐year‐old female

S. Aradhya, E. Huang, S. Shankar, 2019, Pediatric blood & cancer.

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

V. Sheffield, E. Stone, S. Daiger, 2008, Ophthalmic genetics.

The phenotypic characteristics of the p.N215S Fabry disease genotype in male and female patients: a multi-center Fabry Registry study

F. Pieruzzi, C. Wanner, F. Cecchi, 2017 .

Modifier genes in the phenotypic manifestation of primary disease-causing mutations

S. Shankar, 2005 .

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

E. Stone, S. Daiger, S. Bowne, 2015, JAMA ophthalmology.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

M. M. Morrow, M. Shinawi, D. Chitayat, 2021, Pediatric neurology.

Linkage Analysis of the X Chromosome in a Brazilian Family With Leber Hereditary Optic Neuropathy (LHON)

T. Braun, E. Stone, S. Daiger, 2005 .

U. Brinkmann, J. Stoler, F. Alkuraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome

A. Ankala, J. Alexander, Nieraj Jain, 2018, American Journal of Medical Genetics. Part A.

Chapter 3: Genetic Testing

Susanna S. Park, S. Shankar, 2015 .

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

S. Shvartsman, J. Albeck, M. Therrien, 2018, American Journal of Medical Genetics. Part A.

MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION.

Jiong Yan, S. Shankar, S. Lambert, 2016, Retinal cases & brief reports.

Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.

B. Mueller, K. Lim, J. Wozniak, 2022, Molecular genetics and metabolism.