Rossi, Massimiliano

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Béna, F., Bruno, D. L., Eriksson, M., van Ravenswaaij‐Arts, C., Stark, Z., Dijkhuizen, T., Gerkes, E., Gimelli, S., Ganesamoorthy, D., Thuresson, A. C., et al. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 109

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation

Rossi, M., Jones, R. L., Norbury, G., Bloch-Zupan, A., & Winter, R. M. (2003) · Clinical Dysmorphology

Craniofacial Disorders and TreatmentsCongenital limb and hand anomalies

Cited by 42

Clinical interest of molecular study in cases of isolated midline craniosynostosis

Di Rocco, F., Rossi, M., Verlut, I., Szathmari, A., Beuriat, P. A., Chatron, N., Chauvel-Picard, J., Mottolese, C., Monin, P., Vinchon, M., et al. (2023) · European Journal of Human Genetics

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 18

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations

Cárdenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zürcher, N. R., Addor, M.-C., Andrieux, J., Arveiler, B., et al. (2019) · NeuroImage

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 14

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

Sideropoulos, V., Van Herwegen, J., Meuleman, B., Alessandri, M., Alnemary, F. M., Rad, J. A., Lavenex, P. A. B., Bolshakov, N., Bölte, S., Buffle, P., et al. (2023) · Journal of Global Health

COVID-19 and Mental HealthChild and Adolescent Psychosocial and Emotional Development

Cited by 7