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1.
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Curr Issues Mol Biol
; 46(3): 2620-2643, 2024 Mar 19.
Article
in English
| MEDLINE | ID: mdl-38534782
2.
A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.
Curr Issues Mol Biol
; 45(7): 6003-6023, 2023 Jul 17.
Article
in English
| MEDLINE | ID: mdl-37504295
3.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33473207
4.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Brain
; 143(12): 3564-3573, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33242881
5.
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Am J Hum Genet
; 96(3): 507-13, 2015 Mar 05.
Article
in English
| MEDLINE | ID: mdl-25728777
6.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28119487
7.
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Am J Med Genet A
; 170(10): 2632-7, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27151206
8.
Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.
Am J Med Genet A
; 167A(11): 2568-81, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26138114
9.
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.
Am J Med Genet A
; 167A(4): 695-700, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25735893
10.
Exome analysis of connective tissue dysplasia: death and rebirth of clinical genetics?
Am J Med Genet A
; 164A(5): 1209-12, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24664531
11.
Maternal genetic effect in DNA analysis: egg on your traits.
Am J Med Genet A
; 158A(7): 1589-93, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22653755
12.
Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up.
Am J Med Genet A
; 170A(4): 1086-7, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26708282
13.
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less.
Am J Med Genet A
; 155A(6): 1437-41, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21567930
14.
Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis.
Am J Med Genet A
; 149A(7): 1494-8, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19530188
15.
The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology.
Am J Med Genet A
; 161A(4): 916-7, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23495102
16.
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Article
in English
| MEDLINE | ID: mdl-29162653
17.
Genetic drift. Saving Grace: On the nature of syndromes and the missed Nobel.
Am J Med Genet A
; 155A(3): 466-8, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21567903
18.
Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease.
J Pediatr Adolesc Gynecol
; 29(2): e39-42, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26639996
19.
A user's guide to the elements of standard morphologic terminology: Analysis and database.
Am J Med Genet A
; 152A(7): 1627-9, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20583187
20.
Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry.
J Pediatr Surg
; 49(4): 514-9, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24726103