Search details
1.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Article
in English
| MEDLINE | ID: mdl-35604360
2.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Article
in English
| MEDLINE | ID: mdl-33596411
3.
Intersectionality of Systemic Disadvantage on Mortality and Care Following TBI.
J Head Trauma Rehabil
; 38(2): 137-146, 2023.
Article
in English
| MEDLINE | ID: mdl-36883896
4.
Partners in care.
Am J Med Genet A
; 185(9): 2630-2632, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33666328
5.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33783954
6.
Evaluating co-created patient-facing materials to increase understanding of genetic test results.
J Genet Couns
; 30(2): 598-605, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33098367
7.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31949314
8.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-32047287
9.
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain
; 142(11): 3351-3359, 2019 11 01.
Article
in English
| MEDLINE | ID: mdl-31504246
10.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics
; 20(3): 129-143, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31041561
11.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Am J Hum Genet
; 99(4): 962-973, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27666370
12.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30739909
13.
Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.
J Pediatr
; 211: 207-210, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31079856
14.
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
J Hum Genet
; 62(6): 589-597, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28228639
15.
An ancient founder mutation in PROKR2 impairs human reproduction.
Hum Mol Genet
; 21(19): 4314-24, 2012 Oct 01.
Article
in English
| MEDLINE | ID: mdl-22773735
16.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology
; 102(2): e207945, 2024 01 23.
Article
in English
| MEDLINE | ID: mdl-38165337
17.
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
Proc Natl Acad Sci U S A
; 107(34): 15140-4, 2010 Aug 24.
Article
in English
| MEDLINE | ID: mdl-20696889
18.
Symptoms and signs of lung cancer prior to diagnosis: case-control study using electronic health records from ambulatory care within a large US-based tertiary care centre.
BMJ Open
; 13(4): e068832, 2023 04 20.
Article
in English
| MEDLINE | ID: mdl-37080616
19.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sci Adv
; 9(10): eade1463, 2023 03 10.
Article
in English
| MEDLINE | ID: mdl-36897941
20.
Payment strategies for behavioral health integration in hospital-affiliated and non-hospital-affiliated primary care practices.
Transl Behav Med
; 12(8): 878-883, 2022 08 17.
Article
in English
| MEDLINE | ID: mdl-35880768