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O. Mutchinick · SciRah

Researcher profile · Semantic Scholar

O. Mutchinick

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O. Mutchinick — researcher profile on SciRah

h-index: 29
Works: 127
Citations: 3,454

Most-cited papers

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
C. Cardoso, R. Leventer, Heather L. Ward, K. Toyo-oka +11 more
2003American Journal of Human Genetics240 citations Open access
Semantic Scholar
Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations.
R. Guéant-Rodriguez, J. Guéant, R. Debard, S. Thirion +15 more
2006American Journal of Clinical Nutrition215 citations Open access
Semantic Scholar
A Joint International Study on the Epidemiology of Hypospadias
Bengt Kallgn, R. Bertollini, E. Castilla, A. Czeizel +4 more
1986Acta paediatrica Scandinavica. Supplement191 citations
Semantic Scholar
Congenital malformations in twins: an international study.
P. Mastroiacovo, Eduardo E. Castilla, C. Arpino, B. Botting +8 more
1999American journal of medical genetics189 citations
Semantic Scholar
Failure of adjusted doses of subcutaneous heparin to prevent thromboembolic phenomena in pregnant patients with mechanical cardiac valve prostheses.
E. Salazar, R. Izaguirre, J. Verdejo, O. Mutchinick
1996Journal of the American College of Cardiology188 citations Open access
Semantic Scholar
Gastroschisis and associated defects: An international study
P. Mastroiacovo, Alessandra Lisi, Eduardo E. Castilla, M. Martinez-frias +24 more
2007American Journal of Medical Genetics. Part A158 citations
Semantic Scholar
Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010
Xiao Yu, N. Nassar, P. Mastroiacovo, M. Canfield +40 more
2019European Urology141 citations Open access
Semantic Scholar
International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies.
G. Cocchi, S. Gualdi, C. Bower, J. Halliday +20 more
2010Birth defects research. Clinical and molecular teratology141 citations Open access
Semantic Scholar
High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects.
O. Mutchinick, M. A. Lopez, Leonora Luna, J. Waxman +1 more
1999Molecular Genetics and Metabolism126 citations
Semantic Scholar
Prevalence and Mortality among Children with Congenital Diaphragmatic Hernia: A Multi-Country Analysis
M. Politis, E. Bermejo-Sánchez, M. Canfield, P. Contiero +26 more
2020Annals of Epidemiology106 citations Open access
Semantic Scholar
An international collaborative study of the epidemiology of esophageal atresia or stenosis.
E. Robert, O. Mutchinick, P. Mastroiacovo, L. Knudsen +5 more
1993Reproductive Toxicology86 citations
Semantic Scholar
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.
E. Leoncini, G. Baranello, I. Orioli, G. Annéren +25 more
2008Birth defects research. Clinical and molecular teratology85 citations
Semantic Scholar
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
A. Mensa-Vilaró, María Bravo García-Morato, O. de la Calle-Martin, C. Franco-Jarava +46 more
2019Journal of Allergy and Clinical Immunology73 citations Open access
Semantic Scholar
Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients.
J. P. Méndez, A. Ulloa-Aguirre, S. Kofman-Alfaro, O. Mutchinick +3 more
1993American journal of medical genetics67 citations
Semantic Scholar
Preferential Associations between Oral Clefts and Other Major Congenital Anomalies
M. Rittler, J. López-Camelo, E. Castilla, E. Bermejo +17 more
2008The Cleft Palate-Craniofacial Journal66 citations
Semantic Scholar
Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.
A. Rosano, L. D. Botto, R. Olney, Muin J. Khoury +12 more
2000American journal of medical genetics61 citations
Semantic Scholar
Mutations of the 5α‐reductase Type 2 gene in eight Mexican patients from six different pedigrees with 5α‐reductase‐2 deficiency
P. Canto, F. Vilchis, B. Chávez, O. Mutchinick +4 more
199758 citations
Semantic Scholar
Oral contraceptives in the etiology of isolated hypospadias.
B. Kallen, P. Mastroiacovo, P. Lancaster, O. Mutchinick +4 more
1991Contraception50 citations
Semantic Scholar
How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research
E. Leoncini, Lorenzo D. Botto, G. Cocchi, G. Annéren +31 more
2010American Journal of Medical Genetics. Part A45 citations Open access
Semantic Scholar
Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico
Cecilia Contreras-Cubas, B. Sánchez-Hernández, H. García-Ortiz, A. Martínez-Hernández +12 more
2016PLoS ONE42 citations Open access
Semantic Scholar
Environmental influence on the worldwide prevalence of a 776C→G variant in the transcobalamin gene (TCN2)
J. Guéant, N. Chabi, R. Guéant-Rodriguez, O. Mutchinick +19 more
2007Journal of Medical Genetics42 citations Open access
Semantic Scholar
Association of Vitamin D Receptor Polymorphisms with Osteoporosis in Mexican Postmenopausal Women
R. Lisker, M. A. López, S. Jasqui, S. P. de León Rosales +3 more
2003Human Biology: The Official Publication of the American Association of Anthropological Genetics38 citations
Semantic Scholar
Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry‐Based Study, 2001‐2012
M. Bakker, V. Kancherla, M. Canfield, E. Bermejo-Sánchez +23 more
2019Paediatric and Perinatal Epidemiology32 citations Open access
Semantic Scholar
Prevalence and mortality among children with anorectal malformation: A multi-country analysis
V. Kancherla, M. Sundar, Tandaki Lucita, Anke Lux +27 more
2022Birth Defects Research31 citations Open access
Semantic Scholar
X chromosome monosomy in primary and overlapping autoimmune diseases.
Y. Svyryd, G. Hernández-Molina, Florencia Vargas, J. Sánchez-Guerrero +2 more
2012Autoimmunity Reviews31 citations
Semantic Scholar
Endocrine and biochemical studies in a 46,XY phenotypically male infant with 17-ketosteroid reductase deficiency.
A. Ulloa-Aguirre, S. Bassol, J. Poo, J. P. Méndez +3 more
1985Journal of Clinical Endocrinology and Metabolism31 citations
Semantic Scholar
The role of the X chromosome in immunity and autoimmunity.
G. Hernández-Molina, Y. Svyryd, J. Sánchez-Guerrero, O. Mutchinick
2007Autoimmunity Reviews29 citations
Semantic Scholar
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Patricia Franzka, H. Henze, M. J. Jung, S. Schüler +22 more
2021Journal of Clinical Investigation27 citations Open access
Semantic Scholar
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs
J. Bell, Gareth Baynam, J. Bergman, E. Bermejo-Sánchez +25 more
2021Birth Defects Research27 citations Open access
Semantic Scholar
A multi-program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse for Birth Defects Surveillance and Research programs, 1974–2014
Niall Mc Goldrick, G. Revie, Boris Groisman, P. Hurtado-Villa +20 more
2023Birth Defects Research22 citations Open access
Semantic Scholar
Using Genetic and Epigenetic Markers to Improve Differential Diagnosis of Prostate Cancer and Benign Prostatic Hyperplasia by Noninvasive Methods in Mexican Patients
Beatriz E. Sánchez, A. Aguayo, Braulio Martínez, F. Rodriguez +8 more
2018Clinical Genitourinary Cancer22 citations
Semantic Scholar
Accidental radiation injury to the hand: anatomical and physiological considerations.
M. E. Berger, R. Hurtado, J. Dunlap, O. Mutchinick +4 more
1997Health Physics22 citations
Semantic Scholar
PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases.
I. Madera-Salcedo, B. Sánchez-Hernández, Y. Svyryd, M. Esquivel-Velázquez +8 more
2019JCI Insight21 citations Open access
Semantic Scholar
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.
N. Monroy, L. Macias-Kauffer, O. Mutchinick
2008European Journal of Medical Genetics21 citations
Semantic Scholar
Patient with chronic myelogenous leukemia and late appearing Philadelphia chromosome.
R. Lisker, L. Casas, O. Mutchinick, Benjamín López-Ariza +1 more
1982Cancer Genetics and Cytogenetics21 citations
Semantic Scholar
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry
M. E. Arteaga, W. Hunziker, A. Teo, A. Hillmer +1 more
2015Renal Failure18 citations Open access
Semantic Scholar
OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.
J. Arteaga-Vázquez, Leonora Luna-Muñoz, Juan José Morales-Suárez, O. Mutchinick
2019Birth Defects Research17 citations
Semantic Scholar
Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans
Cecilia Contreras-Cubas, H. García-Ortiz, Rafael Velázquez-Cruz, F. Barajas-Olmos +9 more
2019Scientific Reports17 citations Open access
Semantic Scholar
Identification of Copy Number Variations in Isolated Tetralogy of Fallot
Adolfo Aguayo-Gómez, J. Arteaga-Vázquez, Y. Svyryd, J. Calderón-Colmenero +3 more
2015Pediatric Cardiology17 citations
Semantic Scholar
Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63
J. C. Zenteno, V. Berdón-Zapata, S. Kofman-Alfaro, O. Mutchinick
2005American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency.
P. Canto, F. Vilchis, B. Chávez, O. Mutchinick +4 more
1997Clinical Endocrinology16 citations
Semantic Scholar
Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase‐associated neurodegeneration
Hugo Morales-Briceño, O. Chacón-Camacho, E. Pérez-González, J. Arteaga-Vázquez +5 more
2015Clinical Genetics15 citations
Semantic Scholar
A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability
E. O. Benitez, J. J. Morales, L. A. Muñoz, C. Hübner +1 more
2018Molecular Syndromology13 citations Open access
Semantic Scholar
Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?
H. Kroes, R. Olney, A. Rosano, Ye-Cai Liu +12 more
2004American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Genetic Risk Determinants for Cigarette Smoking Dependence in Mexican Mestizo Families.
Y. Svyryd, A. Ramírez-Venegas, B. Sánchez-Hernández, Adolfo Aguayo-Gómez +4 more
2016Nicotine & Tobacco Research12 citations
Semantic Scholar
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.
O. Mutchinick, L. G. Shaffer, C. Kashork, Elia I. Cervantes
1999American journal of medical genetics12 citations
Semantic Scholar
Endocrine evaluation in a patient with MURCS association and ovarian agenesis.
J. P. Méndez, A. Ulloa-Aguirre, F. Sánchez, O. Mutchinick +1 more
1986European Journal of Obstetrics, Gynecology, and Reproductive Biology12 citations Open access
Semantic Scholar
Genetic polymorphism of the human sex hormone-binding globulin: evidence of an isoelectric focusing variant with normal androgen-binding affinities.
Fernando Larrea, Rosa Maria Oliart, J. Granados, O. Mutchinick +2 more
1990Journal of Steroid Biochemistry11 citations
Semantic Scholar
[The Mexican program of Registration and Epidemiologic Surveillance of External Congenital Malformations].
O. Mutchinick, R. Lisker, V. Babinski
1988Salud Pública de México11 citations
Semantic Scholar
Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype.
Sonia Canún, O. Mutchinick, L. G. Shaffer, Camilo Fernández
1998American journal of medical genetics10 citations
Semantic Scholar

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A. Sipek×10
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