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1.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet
; 108(1): 8-15, 2021 01 07.
Article
in English
| MEDLINE | ID: mdl-33417889
2.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32442410
3.
Automated syndrome diagnosis by three-dimensional facial imaging.
Genet Med
; 22(10): 1682-1693, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32475986
4.
The different facets of "culture" in genetic counseling: A situated analysis of genetic counseling in Hong Kong.
Am J Med Genet C Semin Med Genet
; 181(2): 187-195, 2019 06.
Article
in English
| MEDLINE | ID: mdl-31046193
5.
Response to Hamosh et al.
Am J Hum Genet
; 108(9): 1809-1810, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34478656
6.
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
Am J Med Genet A
; 158A(9): 2152-61, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22847950
7.
Revisiting recombinant 8 syndrome.
Am J Med Genet A
; 155A(8): 1923-9, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21739594
8.
Detection of clinically relevant exonic copy-number changes by array CGH.
Hum Mutat
; 31(12): 1326-42, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20848651
9.
Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
Autism Res
; 13(7): 1227-1238, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32567802
10.
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
J Autism Dev Disord
; 49(5): 2184-2202, 2019 May.
Article
in English
| MEDLINE | ID: mdl-30783897
11.
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
Science
; 331(6024): 1571-6, 2011 Mar 25.
Article
in English
| MEDLINE | ID: mdl-21436445
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