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1 . Academic Journal
A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping
저자
by
Ying S. Zou
;
Melanie Klausner
;
Jen Ghabrial
;
Victoria Stinnett
;
Patty Long
, et al.
소스
Blood Cancer Journal, Vol 14, Iss 1, Pp 1-5 (2024)
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7 . Academic Journal
Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants
저자
by
Rachel J. Boyd
;
Jaclyn B. Murry
;
Laura A. Morsberger
;
Melanie Klausner
;
Suping Chen
, et al.
소스
Cancers, Vol 15, Iss 22, p 5439 (2023)
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7 . Academic Journal
Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas
저자
by
Ying S. Zou
;
Laura Morsberger
;
Melanie Hardy
;
Jen Ghabrial
;
Victoria Stinnett
, et al.
소스
Genes, Vol 14, Iss 6, p 1139 (2023)
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7 . Academic Journal
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
저자
by
Ilaria Mannucci
;
Nghi D. P. Dang
;
Hannes Huber
;
Jaclyn B. Murry
;
Jeff Abramson
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
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7 .
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial
저자
by
Heidi L. Rehm
;
Bethany Zettler
;
Amy L. McGuire
;
Sergei Roumiantsev
;
Dmitry Dukhovny
, et al.
소스
JAMA Pediatr
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7 .
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
저자
by
Nghi Dang
;
Jonas Denecke
;
Jaclyn B. Murry
;
Laurence A. Bindoff
;
Tatjana Bierhals
, et al.
소스
Genome Medicine, 13, 1
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
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7 .
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
저자
by
Monica H. Wojcik
;
Tian Zhang
;
Ozge Ceyhan-Birsoy
;
Casie A. Genetti
;
Matthew S. Lebo
, et al.
소스
Genet Med
Full Text (ScienceDirect)
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7 .
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
저자
by
Ozge Ceyhan-Birsoy
;
Jaclyn B. Murry
;
Kalotina Machini
;
Matthew S. Lebo
;
Timothy W. Yu
, et al.
소스
The American Journal of Human Genetics
. 104:76-93
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7 .
Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project
저자
by
Casie A. Genetti
;
Talia S. Schwartz
;
Jill O. Robinson
;
Grace E. VanNoy
;
Devan Petersen
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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7 .
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
저자
by
Alexander P.A. Stegmann
;
Jun Wang
;
Anne Slavotinek
;
Cornelia Kraus
;
Paul J. Benke
, et al.
소스
Open Access (OpenAIRE)
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