Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

William Sullivan; Benjamin C. Reeves; Phan Q. Duy; Carol Nelson-Williams; Weilai Dong; Sheng Chih Jin; Kristopher T. Kahle

doi:10.1001/jamapediatrics.2020.4878

Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

William Sullivan, Benjamin C. Reeves, Phan Q. Duy, Carol Nelson-Williams, Weilai Dong, Sheng Chih Jin, Kristopher T. Kahle

Research output: Contribution to journal › Letter › peer-review

11 Scopus citations

Original language	English
Pages (from-to)	310-313
Number of pages	4
Journal	JAMA Pediatrics
Volume	175
Issue number	3
DOIs	https://doi.org/10.1001/jamapediatrics.2020.4878
State	Published - Mar 2021

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10.1001/jamapediatrics.2020.4878

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@article{9941932f410640608f3b174fc2d9efe2,

title = "Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus",

author = "William Sullivan and Reeves, {Benjamin C.} and Duy, {Phan Q.} and Carol Nelson-Williams and Weilai Dong and Jin, {Sheng Chih} and Kahle, {Kristopher T.}",

note = "Funding Information: Funding/Support: Dr Kahle is supported by the Yale–National Institutes of Health Center for Mendelian Genomics (5U54HG006504); R01 NS111029-01A1, R01 NS109358, K12 228168, and the Rudi Schulte Research Institute. Dr Jin was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, an American Heart Association Postdoctoral Fellowship, and the National Heart, Lung, and Blood Institute of the National Institutes of Health under award number K99HL143036 and R00HL143036-02. Messrs Reeves and Duy are supported by the National Institutes of Health Medical Scientist Training Program Training Grant T32GM136651.",

year = "2021",

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doi = "10.1001/jamapediatrics.2020.4878",

language = "English",

volume = "175",

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T1 - Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

AU - Sullivan, William

AU - Reeves, Benjamin C.

AU - Duy, Phan Q.

AU - Nelson-Williams, Carol

AU - Dong, Weilai

AU - Jin, Sheng Chih

AU - Kahle, Kristopher T.

N1 - Funding Information: Funding/Support: Dr Kahle is supported by the Yale–National Institutes of Health Center for Mendelian Genomics (5U54HG006504); R01 NS111029-01A1, R01 NS109358, K12 228168, and the Rudi Schulte Research Institute. Dr Jin was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, an American Heart Association Postdoctoral Fellowship, and the National Heart, Lung, and Blood Institute of the National Institutes of Health under award number K99HL143036 and R00HL143036-02. Messrs Reeves and Duy are supported by the National Institutes of Health Medical Scientist Training Program Training Grant T32GM136651.

PY - 2021/3

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U2 - 10.1001/jamapediatrics.2020.4878

DO - 10.1001/jamapediatrics.2020.4878

M3 - Letter

C2 - 33196764

AN - SCOPUS:85096180396

SN - 2168-6203

VL - 175

SP - 310

EP - 313

JO - JAMA Pediatrics

JF - JAMA Pediatrics

IS - 3

ER -

Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

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