I. López - Concepedia

Author

I. López

Hospital Universitario Virgen de la Arrixaca ORCID

Also Known As

Constantijne Mom, I Lopez, I López, I. Lopez, I. Lopez Expósito, I. López, I. López-Exposito, I. López-Expósito, I. Lopez, Ignacio Javier López

Publications

779

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario Virgen de la Arrixaca McGill University McGill University Health Centre Instituto de Investigación de Enfermedades Raras Universitat Autònoma de Barcelona

About

I. López is an author at Hospital Universitario Virgen de la Arrixaca specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	261
2	Public Health	1	1	10
3	Social Sciences	1	1	135
4	Cell Biology	1	1	70
5	Genetic Medicine	1	1	70

I. López

Publications

682

Citations

H-Index

Page 1

	Year	Citations
FRAXE and mental retardation. John C. Mulley, Shuancang Yu, Danuta Z. Loesch, Journal of Medical Genetics CytogeneticsGeneticsGenetic EpidemiologyNeuropsychiatryEpigenetics	1995	135
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, Nature Communications	2015	93
Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect I. López, Juan Antonio Bafallíu, Mònica Santos, American Journal of Medical Genetics Part A	2008	76
<i>WDR19</i> : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome Razek Georges Coussa, Edgar A. Otto, Heon Yung Gee, Clinical Genetics GeneticsRenal PathologyPathologyMolecular GeneticsDisease Gene Identification	2013	70
Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies Ascensión Vera‐Carbonell, Vanesa López‐González, Juan Antonio Bafallíu, American Journal of Medical Genetics Part A	2015	57
<i>GPR98</i> mutations cause Usher syndrome type 2 in males Inga Ebermann, Martin H. J. Wiesen, Eberhart Zrenner, Journal of Medical Genetics	2009	42
Prenatal diagnosis of <i>de novo</i> deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects I. López, Juan Antonio Bafallíu, Maldonado Bernabé, Prenatal Diagnosis	2006	39
A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis Malik Ibrahim, Tuğba Alarcon-Martinez, I. López, Scientific Reports	2018	39
Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome Ascensión Vera‐Carbonell, Vanesa López‐González, Juan Antonio Bafallíu, American Journal of Medical Genetics Part A	2013	38
FRAXE mutation analysis in three spanish families Pablo Carbonell, I. López, J. Gabarrón, American Journal of Medical Genetics	1996	26

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