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Francisca Millán Zamora
Francisca Millán Zamora
Clinical Molecular Geneticist
在 external.unilabs.com 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
10602016
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
1792015
Monogenic variants in dystonia: an exome-wide sequencing study
M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ...
The Lancet Neurology 19 (11), 908-918, 2020
1752020
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
1422020
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features
E Tham, A Lindstrand, A Santani, H Malmgren, A Nesbitt, HA Dubbs, ...
The American Journal of Human Genetics 96 (3), 507-513, 2015
1362015
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
1002021
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
P Huppke, S Weissbach, JA Church, R Schnur, M Krusen, ...
Nature communications 8 (1), 818, 2017
812017
Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy
DT Burns, S Donkervoort, JS Müller, E Knierim, D Bharucha-Goebel, ...
The American Journal of Human Genetics 102 (5), 858-873, 2018
782018
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
CA Chen, DGM Bosch, MT Cho, JA Rosenfeld, M Shinawi, RA Lewis, ...
Genetics in Medicine 18 (11), 1143-1150, 2016
782016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
Y Ye, MT Cho, K Retterer, N Alexander, T Ben-Omran, M Al-Mureikhi, ...
Molecular Case Studies 1 (1), a000455, 2015
712015
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
JN Dines, K Golden-Grant, A LaCroix, AM Muir, DL Cintrón, K McWalter, ...
Genetics in Medicine 21 (3), 601-607, 2019
652019
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features
G Kellaris, K Khan, SM Baig, IC Tsai, FM Zamora, P Ruggieri, ...
Human Genomics 12, 1-9, 2018
652018
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
ER Berko, MT Cho, C Eng, Y Shao, DA Sweetser, J Waxler, NH Robin, ...
Journal of medical genetics 54 (2), 84-86, 2017
622017
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
F Millan, MT Cho, K Retterer, KG Monaghan, R Bai, P Vitazka, ...
American journal of medical genetics Part A 170 (7), 1791-1798, 2016
612016
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
MD Fountain, DS Oleson, ME Rech, L Segebrecht, JV Hunter, ...
Genetics in medicine 21 (8), 1797-1807, 2019
582019
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
P Hemati, A Revah‐Politi, H Bassan, S Petrovski, CG Bilancia, K Ramsey, ...
American journal of medical genetics Part A 176 (11), 2259-2275, 2018
582018
A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay
K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ...
The American Journal of Human Genetics 100 (2), 343-351, 2017
552017
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ...
The American Journal of Human Genetics 108 (6), 1053-1068, 2021
522021
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
Y Peng, DN Shinde, CA Valencia, JS Mo, J Rosenfeld, M Truitt Cho, ...
Human molecular genetics 26 (24), 4937-4950, 2017
482017
Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome
YA Zarate, L Kalsner, A Basinger, JR Jones, C Li, M Szybowska, ZL Xu, ...
Clinical genetics 92 (4), 423-429, 2017
462017
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