Takip et
Kyle Retterer
Kyle Retterer
geisinger.edu üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Clinical application of whole-exome sequencing across clinical indications
K Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ...
Genetics in Medicine 18 (7), 696-704, 2016
9962016
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ...
New England Journal of Medicine 383 (27), 2628-2638, 2020
6892020
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
4002017
Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Nature, 1-7, 2020
3812020
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
2702015
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
AS Lindy, MB Stosser, E Butler, C Downtain‐Pickersgill, A Shanmugham, ...
Epilepsia 59 (5), 1062-1071, 2018
2522018
Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss
AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ...
The American Journal of Human Genetics 97 (3), 457-464, 2015
1732015
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
MB Stosser, AS Lindy, E Butler, K Retterer, CM Piccirillo-Stosser, ...
Genetics in Medicine 20 (4), 403-410, 2018
1702018
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1462017
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
CL Yates, KG Monaghan, D Copenheaver, K Retterer, J Scuffins, ...
Genetics in Medicine 19 (10), 1171-1178, 2017
1402017
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
K Retterer, J Scuffins, D Schmidt, R Lewis, D Pineda-Alvarez, A Stafford, ...
Genetics in Medicine 17 (8), 623-629, 2015
1372015
Global Imaging of O+ from IMAGE/HENA
DG Mitchell, PCS Brandt, EC Roelof, DC Hamilton, KC Retterer, S Mende
Magnetospheric imaging—The image prime mission, 63-75, 2003
1362003
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ...
Nature genetics 52 (10), 1046-1056, 2020
1232020
Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome
NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, ...
The American Journal of Human Genetics 101 (2), 239-254, 2017
1182017
A dyadic approach to the delineation of diagnostic entities in clinical genomics
LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ...
The American Journal of Human Genetics 108 (1), 8-15, 2021
1162021
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ...
The American Journal of Human Genetics 100 (2), 352-363, 2017
1152017
Sex-based analysis of de novo variants in neurodevelopmental disorders
TN Turner, AB Wilfert, TE Bakken, RA Bernier, MR Pepper, Z Zhang, ...
The American Journal of Human Genetics 105 (6), 1274-1285, 2019
992019
Molecular diagnostic yield of exome sequencing in patients with cerebral palsy
A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ...
Jama 325 (5), 467-475, 2021
822021
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
N Damseh, A Simonin, C Jalas, JA Picoraro, A Shaag, MT Cho, B Yaacov, ...
Journal of medical genetics 52 (8), 541-547, 2015
812015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
L Shang, LB Henderson, MT Cho, DS Petrey, CT Fong, KM Haude, ...
Neurogenetics 17, 43-49, 2016
762016
Sistem, işlemi şu anda gerçekleştiremiyor. Daha sonra yeniden deneyin.
Makaleler 1–20