Search details
1.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Mol Genet Metab
; 116(3): 139-45, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26385305
2.
Views of nonmedical, health system professionals regarding the return of whole genome sequencing incidental findings.
WMJ
; 113(5): 179-84, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25739160
3.
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Am J Hum Genet
; 87(4): 465-79, 2010 Oct 08.
Article
in English
| MEDLINE | ID: mdl-20887964
4.
Human gene copy number spectra analysis in congenital heart malformations.
Physiol Genomics
; 44(9): 518-41, 2012 May 01.
Article
in English
| MEDLINE | ID: mdl-22318994
5.
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Am J Hum Genet
; 83(4): 511-9, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-18834967
6.
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Genet Med
; 13(3): 255-62, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21173700
7.
Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 170(12): 3348-3351, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27549580
8.
Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification.
J Assist Reprod Genet
; 27(7): 397-407, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20490649
9.
Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.
J Mol Diagn
; 21(1): 3-12, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30453057
10.
The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Mol Hum Reprod
; 14(6): 367-70, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-18463157
11.
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.
J Med Genet
; 44(1): e59, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17098889
12.
A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).
J Pediatr Genet
; 7(1): 23-28, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29441218
13.
Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.
J Assoc Genet Technol
; 43(2): 56-58, 2017.
Article
in English
| MEDLINE | ID: mdl-28511170
14.
A timely arrival for genomic medicine.
Genet Med
; 13(3): 195-6, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21169843
15.
Preimplantation genetic diagnosis.
Pediatr Clin North Am
; 53(4): 559-77, 2006 Aug.
Article
in English
| MEDLINE | ID: mdl-16872993
16.
Ethical issues in DNA sequencing in the neonate.
Clin Perinatol
; 41(4): 993-1000, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25459786
17.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
J Clin Invest
; 124(11): 4693-708, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25250574
18.
A simplified method for screening siblings for HLA identity using short tandem repeat (STR) polymorphisms.
Hum Immunol
; 74(5): 562-6, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23291277
19.
Genomics in clinical practice: lessons from the front lines.
Sci Transl Med
; 5(194): 194cm5, 2013 Jul 17.
Article
in English
| MEDLINE | ID: mdl-23863829
20.
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Fertil Steril
; 96(6): 1424-1430.e6, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22035731