Natasha E. Shur

发表

Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach

N. Robin, Tanya S. Hinds, N. Shur, 2020, Current opinion in pediatrics.

Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse

D. Bulas, B. Tinkle, Tanya S. Hinds, 2019, American journal of medical genetics. Part A.

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Matthew J. Nichols, J. Kurtzberg, P. Galvin-Parton, 2016, Genetics in Medicine.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

W. Chung, Yvonne W Wu, D. Petrey, 2015, neurogenetics.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

Genetic syndromes: from clinical suspicion to referral to diagnosis.

N. Shur, D. Abuelo, Natasha E. Shur, 2009, Pediatric annals.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Donna M. Martin, B. Coe, J. Rosenfeld, 2012, The New England journal of medicine.

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Nasim Vasli, Jocelyn Laporte, Alan H Beggs, 2013, Neurology.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

R. Pfundt, A. Wilkie, K. Gripp, 2021, Human mutation.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15‐22.1

P. Wheeler, J. Cowan, N. Shur, 2003, American journal of medical genetics. Part A.

The past, present, and future of child growth monitoring: A review and primer for clinical genetics

C. Daymont, D. Regier, M. Summar, 2023, American journal of medical genetics. Part A.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

J. Rosenfeld, Hyung-Goo Kim, T. Haaf, 2022, Human mutation.

Genetic causes of fractures and subdural hematomas: fact versus fiction

Tanya S. Hinds, B. McIntosh, N. Shur, 2021, Pediatric Radiology.

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis

N. Ah Mew, N. Shur, D. Regier, 2020, American journal of medical genetics. Part A.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

S. Mane, I. So, Hee-Jung Choi, 2017, Annals of neurology.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, E. Eichler, 2011, Journal of Medical Genetics.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Ehlers–Danlos syndrome: what the radiologist needs to know

Jeannette M. Perez-Rossello, N. Shur, Michael P. George, 2021, Pediatric Radiology.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

G. Raymond, J. Orsini, M. Caggana, 2015, Molecular genetics and metabolism.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

D. Schneidman-Duhovny, S. Dunwoodie, N. Pachter, 2017, Human molecular genetics.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

From new screens to discovered genes: The successful past and promising present of single gene disorders

N. Shur, A. Roe, Natasha E. Shur, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

C. Ferreira, N. Shur, Firas Alqarajeh, 2019, Translational science of rare diseases.

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation

B. L. de Groot, R. Ganetzky, J. Vockley, 2019, Human mutation.

Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom.

N. Robin, N. Shur, Natasha E. Shur, 2020, Current opinion in pediatrics.

Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub’s flawed theories about child abuse and metabolic bone disease

S. Servaes, Stephen D. Brown, J. A. Moreno, 2020, Journal of Pediatric Endocrinology & Metabolism (JPEM).

Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule

B. Tinkle, M. Summar, B. McIntosh, 2019, American journal of medical genetics. Part A.

A case of broken bones and systems: The threat of irresponsible testimony

Natasha E. Shur, 2019, American Journal of Medical Genetics. Part A.

Genetic differentials of child abuse: Is your case rare or real?

N. Shur, J. C. Carey, Natasha E. Shur, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations

N. Shur, D. Regier, Rebecca A. Hicks, 2020, American journal of medical genetics. Part A.

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p

G. B. Schaefer, A. Garnica, N. Shur, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Mahshid S. Azamian, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.

Hope, Hype, and Genotype: Genetic Testing in Dermatological Diseases

Natasha E. Shur, 2012 .

Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers

N. Shur, E. Macleod, D. Regier, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19

M. Summar, N. Shur, S. Atabaki, 2020, American journal of medical genetics. Part A.

The role of new genetic technology in investigating autism and developmental delay.

S. Gunn, N. Shur, A. Oh, 2011, Medicine and health, Rhode Island.

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.

B. Schweighardt, K. Larimore, N. Longo, 2018, Molecular genetics and metabolism.

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

S. Gunn, E. Morrow, N. Shur, 2012, American journal of medical genetics. Part A.

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

C. Phornphutkul, E. Morrow, B. Jerskey, 2014, Journal of Medical Genetics.

The genetics of twinning: From splitting eggs to breaking paradigms

N. Shur, Natasha E. Shur, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.