Hopkin R - Search Results

1

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K. Valencia CA, et al. Among authors: hopkin r. Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067. eCollection 2015. Front Pediatr. 2015. PMID: 26284228 Free PMC article.

2

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.

Hopkin RJ, Schorry EK, Bofinger M, Saal HM. Hopkin RJ, et al. J Pediatr. 2000 Aug;137(2):247-9. doi: 10.1067/mpd.2000.108272. J Pediatr. 2000. PMID: 10931419

3

Long-term survival in a patient with del(18)(q12.2q21.1).

Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ. Tinkle BT, et al. Am J Med Genet A. 2003 May 15;119A(1):66-70. doi: 10.1002/ajmg.a.10217. Am J Med Genet A. 2003. PMID: 12707962

4

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.

Sebold CD, Lovell A, Hopkin R, Noll R, Schorry E. Sebold CD, et al. Among authors: hopkin r. J Adolesc Health. 2004 Oct;35(4):297-302. doi: 10.1016/j.jadohealth.2003.10.003. J Adolesc Health. 2004. PMID: 15450543

5

Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1.

Tang Y, Lu A, Ran R, Aronow BJ, Schorry EK, Hopkin RJ, Gilbert DL, Glauser TA, Hershey AD, Richtand NW, Privitera M, Dalvi A, Sahay A, Szaflarski JP, Ficker DM, Ratner N, Sharp FR. Tang Y, et al. Among authors: hopkin rj. Brain Res Mol Brain Res. 2004 Dec 20;132(2):155-67. doi: 10.1016/j.molbrainres.2003.10.014. Brain Res Mol Brain Res. 2004. PMID: 15582155

6

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Burrow TA, et al. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. Am J Med Genet A. 2006. PMID: 16528737

7

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2007 Feb 1;143A(3):265-70. doi: 10.1002/ajmg.a.31519. Am J Med Genet A. 2007. PMID: 17219392 Review.

8

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Burrow TA, et al. Curr Opin Pediatr. 2007 Dec;19(6):628-35. doi: 10.1097/MOP.0b013e3282f161f2. Curr Opin Pediatr. 2007. PMID: 18025928 Review.

9

Characterization of congenital anomalies in individuals with choanal atresia.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Burrow TA, et al. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7. doi: 10.1001/archoto.2009.53. Arch Otolaryngol Head Neck Surg. 2009. PMID: 19528400

10

Acute progression of neuromuscular findings in infantile Pompe disease.

Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. Burrow TA, et al. Pediatr Neurol. 2010 Jun;42(6):455-8. doi: 10.1016/j.pediatrneurol.2010.02.006. Pediatr Neurol. 2010. PMID: 20472203

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