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Novel pathogenic variants and quantitative phenotypic analy..:

Zhang, Chaofan ; Jolly, Angad ; Shayota, Brian J...
Zhang , C , Jolly , A , Shayota , B J , Mazzeu , J F , Du , H , Dawood , M , Soper , P C , Ramalho de Lima , A , Ferreira , B M , Coban-Akdemir , Z , White , J , Shears , D , Thomson , F R , Wainwright , A , Wordsworth , P , Oldridge , M , Lester , T , Calder , A D , Dumic , K , Banka , S , Donnai , D , Jhangiani , S N , Potocki , L , Chung , W K , Mora , S , Northrup , H , Ashfaq , M , Rosenfeld , J A , Mason , K , Pollack , L C , McConkie-Rosell , A , Kelly , W , McDonald , M , Hauser , N S , Leahy , P , Powell , C M , Boy , R , Honjo , R S , Kok , F , Martelli , L R , Filho , V O , Genomics England Research Consortium , Muzny , D M , Gibbs , R A , Posey , J E , Liu , P , Lupski , J R & Sutton , V R 2022 , ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ' , Human Genetics and Genomics Advances , vol. 3 , no. 1 , 100074 . https://doi.org/10.1016/j.xhgg.2021.100074. , 2022

Link: https://research.manchester.ac.uk/en/publications/0d1a..

RT Journal
T1 <Title>Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome:WNT signaling perturbation and phenotypic variability</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftumanchesterpub:oai:pure.atira.dk:publications_0d1a3aa4-0c80-46a6-b033-32e0b2e70b47&Exemplar=1&LAN=DE
				
A1 Zhang, Chaofan
A1 Jolly, Angad
A1 Shayota, Brian J
A1 Mazzeu, Juliana F
A1 Du, Haowei
A1 Dawood, Moez
A1 Soper, Patricia Celestino
A1 Ramalho de Lima, Ariadne
A1 Ferreira, Bárbara Merfort
A1 Coban-Akdemir, Zeynep
A1 White, Janson
A1 Shears, Deborah
A1 Thomson, Fraser Robert
A1 Wainwright, Andrew
A1 Wordsworth, Paul
A1 Oldridge, Mike
A1 Lester, Tracy
A1 Calder, Alistair D
A1 Dumic, Katja
A1 Banka, Siddharth
A1 Donnai, Dian
A1 Jhangiani, Shalini N
A1 Potocki, Lorraine
A1 Chung, Wendy K
A1 Mora, Sara
A1 Northrup, Hope
A1 Ashfaq, Myla
A1 Rosenfeld, Jill A
A1 Mason, Kati
A1 Pollack, Lynda C
A1 McConkie-Rosell, Allyn
A1 Kelly, Wei
A1 McDonald, Marie
A1 Hauser, Natalie S
A1 Leahy, Peter
A1 Powell, Cynthia M
A1 Boy, Raquel
A1 Honjo, Rachel Sayuri
A1 Kok, Fernando
A1 Martelli, Lucia R
A1 Filho, Vicente Odone
A1 Genomics England Research Consortium
A1 Muzny, Donna M
A1 Gibbs, Richard A
A1 Posey, Jennifer E
A1 Liu, Pengfei
A1 Lupski, James R
A1 Sutton, V Reid
YR 2022
K1 DVL2
K1 HPO terms
K1 genotype-phenotype correlation
K1 indel mutations
K1 molecular diagnosis
K1 quantitative phenotyping cluster heatmap
K1 screw-tail breed dogs
K1 skeletal dysplasia
K1 traits and OMIM clinical synopsis
JF Zhang , C , Jolly , A , Shayota , B J , Mazzeu , J F , Du , H , Dawood , M , Soper , P C , Ramalho de Lima , A , Ferreira , B M , Coban-Akdemir , Z , White , J , Shears , D , Thomson , F R , Wainwright , A , Wordsworth , P , Oldridge , M , Lester , T , Calder , A D , Dumic , K , Banka , S , Donnai , D , Jhangiani , S N , Potocki , L , Chung , W K , Mora , S , Northrup , H , Ashfaq , M , Rosenfeld , J A , Mason , K , Pollack , L C , McConkie-Rosell , A , Kelly , W , McDonald , M , Hauser , N S , Leahy , P , Powell , C M , Boy , R , Honjo , R S , Kok , F , Martelli , L R , Filho , V O , Genomics England Research Consortium , Muzny , D M , Gibbs , R A , Posey , J E , Liu , P , Lupski , J R & Sutton , V R 2022 , ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ' , Human Genetics and Genomics Advances , vol. 3 , no. 1 , 100074 . https://doi.org/10.1016/j.xhgg.2021.100074
LK http://dx.doi.org/https://research.manchester.ac.uk/en/publications/0d1a3aa4-0c80-46a6-b033-32e0b2e70b47
DO https://research.manchester.ac.uk/en/publications/0d1a3aa4-0c80-46a6-b033-32e0b2e70b47
SF ELIB - SuUB Bremen

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