Miguel Del Campo, M.D., Ph.D.

Bio

Dr. Miguel del Campo is a medical geneticist at Rady Children's Hospital-San Diego and an associate professor at UC San Diego.

After graduating from the Universidad Complutense de Madrid in Spain, Dr. del Campo went on to complete additional training at the Hospital Universitario La Paz and the Universidad Autonoma de Madrid. He followed this training with a fellowship in genetics and dysmorphology at the University of California San Diego, a Ph.D. in pediatrics from the Universidad Autonoma de Madrid, and postdoctoral training at the Salk Institute for Biological Studies.

Dr. del Campo cares for patients with dysmorphologic, genetic, and teratologic conditions and his current research interests include: Fetal Alcohol Syndrome (FAS), limb defects and HOX signaling pathways, Williams syndrome, autism, prenatal diagnosis through comparative genomic hybridization, and Marfan syndrome and other connective tissue disorders. Additionally, he actively participates in various national and international organization as well as support groups for parents with children with genetic disorders and FAS disorders.

Dr. del Campo is fluent in Spanish, Catalan, English and French, as well as proficient in Italian and Portuguese.

Publications

PIAS4 Is Associated with Macro/Microcephaly in the Novel Interstitial 19p13.3 Microdeletion/Microduplication Syndrome
Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespin E, Angeles Mori M, Tenorio JA, Gripp KW, Denenber E, del Campo M, et al

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor
Cabral de Almeida Cardoso L, Rodriguez-Laguna L, Del Carmen Crespo M, Vallespín E, Palomares-Bralo M, Martin-Arenas R, Rueda-Arenas I, Silvestre de Faria PA; GT-CSGP Working Group, Garcia-Miguel P, Lapunzina P, Regla Vargas F, Seuanez HN, Martínez-Glez V

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region
Plaja A, Castells N, Cueto-Gonzalez AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodriguez-Santiago B, Carrio A, Miro R, Tizzano E

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Le T, De Paepe A, Malfait F

Metabolic Abnormalities in Williams-Beuren Syndrome
Palacios-Verdu MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Perez-Jurado LA

Integrated Analysis of Whole-Exome Sequencing and Transcriptome Profiling in Males with Autism Spectrum disorders
Codina-Sola M, Rodriguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Lain G, Del Campo M, Gener B, Gabau E, Botella MP, Gutierrez-Arumi A, Antinolo G, Perez-Jurado LA, Cusco I

Whole Exome Sequencing Identifies De Novo Heterozygous CAV1 Mutations Associated with a Novel Neonatal Onset Lipodystrophy Syndrome
Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK; University of Washington Center for Mendelian Genomics

A New Overgrowth Syndrome Is Due to Mutations in RNF125
Tenorio J, Mansilla A, et al.

Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstiti�al Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome
Lloveras E, Vendrell T, Fernandez A, Castells N, Cueto A, del Campo M, Hernando C, Villa O, Plaja A

Whole Exome Sequencing for the Identification of a New Mutation in TGFB2 Involved in a Familial Case of Non-Syndromic Aortic Disease
Gago-Diaz M, Blanco-Verea A, Teixido-Tura G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, Garcia-Dorado D, Evangelista A, Carracedo A, Brion M

Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis
Malikova J, Camats N, Fernandez-Cancio M, Heath K, Gonzalez I, Caimari M, del Campo M, Albisu M, Kolouskova S, Audi L, Fluck CE

Nonsyndromic Familial Aortic Disease: An Underdiagnosed Entity
Teixido-Tura G, Valenzuela I, Gutierrez L, Borregan M, Del Campo M, Evangelista A

Dysmorphology at a Distance: Results of a Web-Based Diagnostic Service
Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K; DYSCERNE expert panel

Trisomy 18p Caused by a Supernumerary Marker with a Chromosome 13/21 Centromere: A Possible Recurrent Chromosome Aberration
Plaja A, Lloveras E, Martinez-Bouzas C, Barrena B, Del Campo M, Fernandez A, Herrero M, Barranco L, Palau N, Lopez-Ariztegui MA, Catala V, Tejada MI

Similar Phenotypes Caused by Mutations in OTOG and OTOGL
Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ

Loss-of-Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-Like Features, Ocular Hypertelorism, Large Fontanelle and X-Linked Inheritance
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, et al.

Analysis of Two Language-Related Genes in Autism: A Case-Control Association Study of FOXP2 and CNTNAP2
Toma C, Hervas A, Torrico B, Balmana N, Salgado M, Maristany M, Vilella E, Martinez-Leal R, Planelles MI, Cusco I, del Campo M, Perez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribases M, Bayes M, Cormand B

Thoracic Aortic-Aneurysm and Dissection in Association with Significant Mitral Valve Disease Caused by Mutations in TGFB2
Renard M, Callewaert B, Malfait F, Campens L, Sharif S, del Campo M, Valenzuela I, Mcwilliam C, Coucke P, De Paepe A, De Backer J

MLL2 Mutation Detection in 86 Patients with Kabuki Syndrome: A Genotype-Phenotype Study
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, et al.

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del� Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Seco CZ, Oonk AM, Kunst HP, Dominguez-Ruiz M, Garcia-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H

Recessive Mutations in EPG5 Cause Vici Syndrome, a Multisystem Disorder with Defective Autophagy
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, et al.

High Resolution Melting Analysis for the Identification of Novel Mutations in DKC1 and TERT Genes in Patients with Dyskeratosis Congenita
Carrillo J, Martínez P, Solera J, Moratilla C, Gonzalez A, Manguan-García C, Aymerich M, Canal L, Del Campo M, Dapena JL, Escoda L, García-Sagredo JM, Martin-Sala S, Rives S, Sevilla J, Sastre L, Perona R

Association Study of Six Candidate Genes Asymmetrically Expressed in the Two Cerebral Hemispheres Suggests the Involvement of BAIAP2 in Autism
Toma C, Hervas A, Balmana N, Vilella E, Aguilera F, Cusco I, del Campo M, Caballero R, De Diego-Otero Y, Ribases M, Cormand B, Bayes M

Partial 7q11.23 Deletions Further Implicate GTF2I and GTF2IRD1 as the Main Genes Responsible for the Williams-Beuren Syndrome Neurocognitive Profile
Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Perez-Jurado LA

Fetal Alcohol Spectrum Disorders: Extending the Range of Structural Defects
Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Prewitt LM, Chambers CD