M. Cohen

发表

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.

J. Weissenbach, E. Green, M. Summar, 1994, American journal of human genetics.

[Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders].

W. Briegel, M. Cohen, 2004, Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie.

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

E. Zackai, B. Clark, B. Emanuel, 1997, Pediatrics.

Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.

S. Clarren, C. E. Jackson, C. Garcia, 1994, Genomics.

Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences.

S. Antonarakis, A. Shuldiner, J. Roth, 1994, Genomics.

Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths

P. Munroe, N. Sebire, A. Taylor, 2018, Circulation. Genomic and precision medicine.

Communication disorders in the 22Q11.2 microdeletion syndrome.

E. Zackai, D. Driscoll, M. Gerdes, 2000, Journal of communication disorders.

Breakpoints around the HOXD cluster result in various limb malformations

S. Mundlos, A. Silahtaroglu, Z. Tümer, 2005, Journal of Medical Genetics.

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

E. Jabs, C. Theda, C. Dufresne, 1995, American journal of human genetics.

Multiplex-FISH for pre- and postnatal diagnostic applications.

M R Speicher, S. Schuffenhauer, T. Cremer, 1999, American journal of human genetics.

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother

S. Schuffenhauer, O. Genzel‐Boroviczény, M. Cohen, 1996, Clinical genetics.