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Kandamurugu Manickam
Kandamurugu Manickam
Nationwide Children's Hospital
在 nationwidechildrens.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
Genetic identification of familial hypercholesterolemia within a single US health care system
NS Abul-Husn, K Manickam, LK Jones, EA Wright, DN Hartzel, ...
Science 354 (6319), aaf7000, 2016
4242016
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical …
K Manickam, MR McClain, LA Demmer, S Biswas, HM Kearney, ...
Genetics in Medicine 23 (11), 2029-2037, 2021
3262021
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
N Gomez-Ospina, CJ Potter, R Xiao, K Manickam, MS Kim, KH Kim, ...
Nature communications 7 (1), 10713, 2016
2962016
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
KL McBride, EA Varga, MT Pastore, TW Prior, K Manickam, JF Atkin, ...
Autism Research 3 (3), 137-141, 2010
2782010
Exome sequencing–based screening for BRCA1/2 expected pathogenic variants among adult biobank participants
K Manickam, AH Buchanan, MLB Schwartz, MLG Hallquist, JL Williams, ...
JAMA Network Open 1 (5), e182140-e182140, 2018
2002018
A model for genome-first care: returning secondary genomic findings to participants and their healthcare providers in a large research cohort
MLB Schwartz, CZ McCormick, AL Lazzeri, ML D’Andra, MLG Hallquist, ...
The American Journal of Human Genetics 103 (3), 328-337, 2018
1532018
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
S Byrne, L Jansen, JM U-King-Im, A Siddiqui, HGW Lidov, I Bodi, L Smith, ...
Brain 139 (3), 765-781, 2016
1102016
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
WL Charng, E Karaca, Z Coban Akdemir, T Gambin, MM Atik, S Gu, ...
BMC medical genomics 9, 1-14, 2016
1072016
Validation of My Family Health Portrait for six common heritable conditions
FM Facio, WG Feero, A Linn, N Oden, K Manickam, LG Biesecker
Genetics in Medicine 12 (6), 370-375, 2010
882010
Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases
JA Rosenfeld, D Amrom, E Andermann, F Andermann, M Veilleux, ...
Neurogenetics 13, 31-47, 2012
652012
Reciprocal deletion and duplication at 2q23. 1 indicates a role for MBD5 in autism spectrum disorder
SV Mullegama, JA Rosenfeld, C Orellana, BWM Van Bon, S Halbach, ...
European Journal of Human Genetics 22 (1), 57-63, 2014
602014
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
AH Buchanan, K Manickam, MN Meyer, JK Wagner, MLG Hallquist, ...
Genetics in Medicine 20 (5), 554-558, 2018
582018
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
SL Santoro, S Cannon, G Capone, C Franklin, SJ Hart, V Hobensack, ...
Genetics in Medicine 22 (4), 767-776, 2020
512020
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics …
MF Murray, MA Giovanni, DL Doyle, SM Harrison, E Lyon, K Manickam, ...
Genetics in Medicine 23 (6), 989-995, 2021
492021
Psychiatric conditions prevalent among adults with Down syndrome
MJ Tassé, P Navas Macho, SM Havercamp, BA Benson, DC Allain, ...
Journal of Policy and Practice in Intellectual Disabilities 13 (2), 173-180, 2016
462016
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ...
American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021
422021
Medication therapy disease management: Geisinger’s approach to population health management
LK Jones, G Greskovic, DM Grassi, J Graham, H Sun, MR Gionfriddo, ...
American journal of health-system pharmacy 74 (18), 1422-1435, 2017
342017
Direct-to-consumer personal genomic testing: a case study and practical recommendations for “genomic counseling”
AC Sturm, K Manickam
Journal of genetic counseling 21, 402-412, 2012
332012
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
A Morgan, DC Koboldt, ES Barrie, ER Crist, G García García, ...
Human mutation 40 (12), 2286-2295, 2019
292019
COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis
S Durrani-Kolarik, K Manickam, B Chen
Pediatric Neurology 66, 100-103, 2017
292017
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