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1 . Periodical
Recurrent de novomissense variants in GNB2can cause syndromic intellectual disability
저자
by
Tan, Natalie B
;
Pagnamenta, Alistair T
;
Ferla, Matteo P
;
Gadian, Jonathan
;
Chung, Brian HY
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 5 p511-516, 6p
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7 .
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
저자
by
Peer Arts
;
Anne O'Donnell-Luria
;
David Lawrence
;
Hamish Scott
;
Ali Moghimi
, et al.
소스
Nature Medicine
. 29:180-189
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7 . Periodical
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
저자
by
Byrne, Alicia B
;
Mizumoto, Shuji
;
Arts, Peer
;
Yap, Patrick
;
Feng, Jinghua
, et al.
소스
Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 7 p454-460, 7p
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7 .
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
저자
by
Stephen J. Guter
;
Laurie A. Demmer
;
Jasmine Lf Fung
;
Gerarda Cappuccio
;
Naomichi Matsumoto
, et al.
소스
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
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7 .
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
저자
by
Alicia B. Byrne
;
Pascal Brouillard
;
Drew L. Sutton
;
Jan Kazenwadel
;
Saba Montazaribarforoushi
, et al.
소스
Science Translational Medicine, Vol. 14, no. 634 (2022) (2022)
Open Access (OpenAIRE)
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7 .
matchbox: An open-source tool for patient matching via the Matchmaker Exchange
저자
by
Harindra Arachchi
;
Anne H. O’Donnell-Luria
;
Monica H. Wojcik
;
Alicia B. Byrne
;
Samantha Baxter
, et al.
소스
Human Mutation
. 39:1827-1834
Open Access (OpenAIRE)
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7 .
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
저자
by
Paul Wang
;
Hamish S. Scott
;
Sarah L King-Smith
;
Jinghua Feng
;
Quenten Schwarz
, et al.
소스
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
BMC Medical Genomics
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7 .
Posterior neocortex-specific regulation of neuronal migration by CEP85L identifies maternal centriole-dependent activation of CDK5
저자
by
Alicia B. Byrne
;
Laura Isacco
;
R. Sean Hill
;
Wojciech Wiszniewski
;
Kristin W. Barañano
, et al.
소스
Neuron
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7 .
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
저자
by
Hamish S. Scott
;
Ravi Savarirayan
;
Alicia B. Byrne
;
Milena Babic
;
Kazuyuki Sugahara
, et al.
소스
Journal of Medical Genetics
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7 .
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: phenotypic expansion of the PBX1 -related syndrome
저자
by
Arts, Peer
;
Garland, Jessica
;
Byrne, Alicia B
;
Hardy, Tristan SE
;
Babic, Milena
, et al.
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