Search details
1.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Cell
; 159(1): 200-214, 2014 Sep 25.
Article
in English
| MEDLINE | ID: mdl-25259927
2.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Article
in English
| MEDLINE | ID: mdl-37751738
3.
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
4.
Association of initial opioid prescription duration and an opioid refill by pain diagnosis: Evidence from outpatient settings in ten US health systems.
Prev Med
; 179: 107828, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38110159
5.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37165955
6.
Prescription Opioid Dose Reductions and Potential Adverse Events: a Multi-site Observational Cohort Study in Diverse US Health Systems.
J Gen Intern Med
; 2023 Nov 06.
Article
in English
| MEDLINE | ID: mdl-37930512
7.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37377026
8.
Detecting evolutionary forces in language change.
Nature
; 551(7679): 223-226, 2017 11 09.
Article
in English
| MEDLINE | ID: mdl-29088703
9.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34321323
10.
Delayed diagnosis and racial bias in children with genetic conditions.
Am J Med Genet A
; 188(4): 1118-1123, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35037400
11.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34212383
12.
The Anomalous Mei-yu Rainfall of Summer 2020 from a Circulation Clustering Perspective: Current and Possible Future Prevalence.
Adv Atmos Sci
; 38(12): 2010-2022, 2021.
Article
in English
| MEDLINE | ID: mdl-34483428
13.
The Experimental Design Assistant.
PLoS Biol
; 15(9): e2003779, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28957312
14.
The Sequential Relation Between Changes in Catastrophizing and Changes in Posttraumatic Stress Disorder Symptom Severity.
J Trauma Stress
; 33(5): 731-740, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32479704
15.
Response to Hamosh et al.
Am J Hum Genet
; 108(9): 1809-1810, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34478656
16.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30614194
17.
Culturally Adapted Mobile Technology Improves Environmental Health Literacy in Laurentian, Great Lakes Native Americans (Anishinaabeg).
J Great Lakes Res
; 45(5): 969-975, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-32831463
18.
Health Care Utilization and Expenditures of Homeless Family Members Before and After Emergency Housing.
Am J Public Health
; 108(6): 808-814, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29672141
19.
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Am J Hum Genet
; 94(5): 745-54, 2014 May 01.
Article
in English
| MEDLINE | ID: mdl-24746959
20.
How the brain learns how few are "many": An fMRI study of the flexibility of quantifier semantics.
Neuroimage
; 125: 45-52, 2016 Jan 15.
Article
in English
| MEDLINE | ID: mdl-26481678