Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
Gold, Nina B., Li, Dong, Chassevent, Anna, Kaiser, Frank J., Parenti, Ilaria, Strom, Tim M., Ramos, Feliciano J., Puisac, Beatriz, Pié, Juan, McWalter, Kirsty, Guillen Sacoto, Maria J., Cui, Hong, Saadeh‐Haddad, Reem, Smith‐Hicks, Constance, Rodan, Lance, Blair, Edward, Bhoj, Elizabeth
Published in Clinical genetics (01.12.2020)
Published in Clinical genetics (01.12.2020)
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Perinatal findings in a patient with a novel large chromosome 19p deletion
Culjat, Marko, Razak, Jennifer, Saadeh‐Haddad, Reem, Driggers, Rita, Kamholz, Karen, Timofeev, Julia
Published in Clinical case reports (01.08.2018)
Published in Clinical case reports (01.08.2018)
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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David M., Janssen, Paul M.L., Amacher, Sharon L., Bamshad, Michael J.
Published in American journal of human genetics (06.08.2020)
Published in American journal of human genetics (06.08.2020)
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Response to Hall et al
Chong, Jessica X, Talbot, Jared C, Teets, Emily M, Previs, Samantha, Martin, Brit L, Shively, Kathryn M, Marvin, Colby T, Aylsworth, Arthur S, Saadeh-Haddad, Reem, Schatz, Ulrich A, Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J, Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M, Nayak, Shalini S, Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A, Warshaw, David, Janssen, Paul M, Amacher, Sharon L, Bamshad, Michael J
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis
Chong, Jessica X, Talbot, Jared C, Teets, Emily M, Previs, Samantha, Martin, Brit L, Shively, Kathryn M, Marvin, Colby T, Aylsworth, Arthur S, Saadeh-Haddad, Reem, Schatz, Ulrich A, Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J, Harel, Tamar, Mor-Shaked, Hagar, Periyasamy Radhakrishnan, Girisha, Katta M, Nayak, Shalini S, Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A, Warshaw, David, Janssen, Paul M, University Of Washington Center For Mendelian Genomics, Amacher, Sharon L, Bamshad, Michael J
Published in bioRxiv (08.05.2020)
Published in bioRxiv (08.05.2020)
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