Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome von Almeida, Vanessa Tavares, Chehimi, Samar N, Carvalho, Gleyson F S, Gasparini, Yanca, Nascimento, Amom M, Vieira, Lucas L, Wolff, Beatriz M, Montenegro, Marília M, Kulikowski, Leslie D

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Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry von Chehimi, Samar N., Zanardo, Évelin A., Ceroni, José R. M., Nascimento, Amom M., Madia, Fabrícia A. R., Dias, Alexandre T., Filho, Gil M. N., Montenegro, Marília M., Damasceno, Jullian, Costa, Thaís V. M. M., Gasparini, Yanca, Kim, Chong A., Kulikowski, Leslie D.

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Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations von Zanardo, Évelin A., Monteiro, Fabíola P., Chehimi, Samar N., Oliveira, Yanca G., Dias, Alexandre T., Costa, Larissa A., Ramos, Luiza L., Novo-Filho, Gil M., Montenegro, Marília M., Nascimento, Amom M., Kitajima, João P., Kok, Fernando, Kulikowski, Leslie D.

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Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p von Almeida, Vanessa T., Chehimi, Samar N., Gasparini, Yanca, Nascimento, Amom M., Carvalho, Gleyson F.S., Montenegro, Marília M., Zanardo, Évelin Aline, Dias, Alexandre T., Assunção, Nilson A., Kim, Chong A., Kulikowski, Leslie D.

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Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability von Novo-Filho, Gil M., Montenegro, Marília M., Zanardo, Évelin A., Dutra, Roberta L., Dias, Alexandre T., Piazzon, Flavia B., Costa, Taís V.M.M., Nascimento, Amom M., Honjo, Rachel S., Kim, Chong A., Kulikowski, Leslie D.

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Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior von Dutra, Roberta L., Piazzon, Flavia B., Zanardo, Évelin A., Costa, Thais Virginia Moura Machado, Montenegro, Marília M., Novo-Filho, Gil M., Dias, Alexandre T., Nascimento, Amom M., Kim, Chong Ae, Kulikowski, Leslie D.

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Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases von Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.

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Application of Whole-Exome Sequencing in for updates Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations von Zanardo, Evelin A., Monteiro, Fabiola P., Chehimi, Samar N., Oliveira, Yanca G., Dias, Alexandre T., Costa, Larissa A., Ramos, Luiza L., Novo-Filho, Gil M., Montenegro, Marilia M., Nascimento, Amom M., Kitajima, Joao P., Kok, Fernando, Kulikowski, Leslie D.

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Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines von Gasparini, Yanca, Montenegro, Marília M., Novo-Filho, Gil M., Ceroni, José R.M., Honjo, Rachel S., Zanardo, Évelin A., Dias, Alexandre T., Nascimento, Amon M., Costa, Taís V.M.M., Madia, Fabrícia A., Chehimi, Samar N., Damasceno, Jullian G., Kim, Chong A., Kulikowski, Leslie D.

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Identifying NAHR mechanism between two distinct Alu elements through breakpoint junction mapping by NGS von Novo-Filho, Gil M., Carvalho, Gleyson F.S., Nascimento, Amom M., Montenegro, Marilia M., Damasceno, Jullian G., Zanardo, Évelin A., Chehimi, Samar N., Oliveira, Yanca G., Dias, Alexandre T., Kim, Chong A., Kulikowski, Leslie D.

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Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p von Almeida, Vanessa T, Chehimi, Samar N, Gasparini, Yanca, Nascimento, Amom M, Carvalho, Gleyson F S, Montenegro, Marília M, Zanardo, Évelin Aline, Dias, Alexandre T, Assunção, Nilson A, Kim, Chong A, Kulikowski, Leslie D

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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome von Zanardo, Évelin Aline, Piazzon, Flavia Balbo, Dutra, Roberta Lelis, Dias, Alexandre Torchio, Montenegro, Marília Moreira, Novo-Filho, Gil Monteiro, Costa, Thaís Virgínia Moura Machado, Nascimento, Amom Mendes, Kim, Chong Ae, Kulikowski, Leslie Domenici

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