Search details
1.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med
; 388(17): 1559-1571, 2023 Apr 27.
Article
in English
| MEDLINE | ID: mdl-37043637
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Article
in English
| MEDLINE | ID: mdl-33057194
3.
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Am J Hum Genet
; 108(11): 2186-2194, 2021 11 04.
Article
in English
| MEDLINE | ID: mdl-34626536
4.
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Am J Hum Genet
; 108(6): 1083-1094, 2021 06 03.
Article
in English
| MEDLINE | ID: mdl-34022131
5.
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Genet Med
; 23(3): 571-575, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33149276
6.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Article
in English
| MEDLINE | ID: mdl-30712880
7.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genet Med
; 21(5): 1065-1073, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30293990
8.
The Pfam protein families database: towards a more sustainable future.
Nucleic Acids Res
; 44(D1): D279-85, 2016 Jan 04.
Article
in English
| MEDLINE | ID: mdl-26673716
9.
Rfam 12.0: updates to the RNA families database.
Nucleic Acids Res
; 43(Database issue): D130-7, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25392425
10.
Pfam: the protein families database.
Nucleic Acids Res
; 42(Database issue): D222-30, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24288371
11.
Structure- and context-based analysis of the GxGYxYP family reveals a new putative class of glycoside hydrolase.
BMC Bioinformatics
; 15: 196, 2014 Jun 17.
Article
in English
| MEDLINE | ID: mdl-24938123
12.
New mini- zincin structures provide a minimal scaffold for members of this metallopeptidase superfamily.
BMC Bioinformatics
; 15: 1, 2014 Jan 03.
Article
in English
| MEDLINE | ID: mdl-24383880
13.
Structural genomics analysis of uncharacterized protein families overrepresented in human gut bacteria identifies a novel glycoside hydrolase.
BMC Bioinformatics
; 15: 112, 2014 Apr 17.
Article
in English
| MEDLINE | ID: mdl-24742328
14.
The Pfam protein families database.
Nucleic Acids Res
; 40(Database issue): D290-301, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22127870
15.
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders.
Sci Rep
; 14(1): 8708, 2024 04 15.
Article
in English
| MEDLINE | ID: mdl-38622173
16.
Filling out the structural map of the NTF2-like superfamily.
BMC Bioinformatics
; 14: 327, 2013 Nov 19.
Article
in English
| MEDLINE | ID: mdl-24246060
17.
LUD, a new protein domain associated with lactate utilization.
BMC Bioinformatics
; 14: 341, 2013 Nov 26.
Article
in English
| MEDLINE | ID: mdl-24274019
18.
Two Pfam protein families characterized by a crystal structure of protein lpg2210 from Legionella pneumophila.
BMC Bioinformatics
; 14: 265, 2013 Sep 03.
Article
in English
| MEDLINE | ID: mdl-24004689
19.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
J Clin Endocrinol Metab
; 108(12): e1580-e1587, 2023 Nov 17.
Article
in English
| MEDLINE | ID: mdl-37339320
20.
The contribution of X-linked coding variation to severe developmental disorders.
Nat Commun
; 12(1): 627, 2021 01 27.
Article
in English
| MEDLINE | ID: mdl-33504798