Raymonda Varon

Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

B. Horsthemke, A. Katalinic, A. Sutcliffe, 2005, Journal of Medical Genetics.

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

P. Jeggo, A. Gennery, K. Cerosaletti, 2001, Molecular cell.

Prenatal Diagnosis and Molecular Cytogenetic Characterization of an Unusual Complex Structural Rearrangement in a Pregnancy Following Intracytoplasmic Sperm Injection (ICSI)

T. Liehr, H. Tönnies, H. Neitzel, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Long-Term Observations of Patients with Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

K. Zerres, S. Rudnik-Schöneborn, C. Hübner, 2004, Neuropediatrics.

The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation

E. Seemanová, K. Chrzanowska, K. Sperling, 2022, Cancer reports.

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

H. G. Einsiedel, G. Henze, K. Seeger, 2001, Cancer research.

Genetic heterogeneity for a Nijmegen breakage‐like syndrome

I. Demuth, A. di Masi, A. Antoccia, 2003, Clinical genetics.

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Raymonda Varon, H. Hoehn, D. Schindler, 2007, Orphanet journal of rare diseases.

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

P. Robinson, D. Mitter, K. Sperling, 2012, Molecular Syndromology.

[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

P. Gressens, Angela M. Kaindl, U-P Guenther, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.