Detalhe da pesquisa
1.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216551
2.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet
; 108(1): 8-15, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417889
3.
Does a Preoperative Mental Health Diagnosis Affect Pain Management in Patients With Adolescent Idiopathic Scoliosis Undergoing Surgery?
J Pediatr Orthop
; 44(1): e35-e39, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822209
4.
Exposed Intramedullary Fixation Produces Similar Outcomes to Buried Fixation for Acute Pediatric Monteggia Fractures.
J Pediatr Orthop
; 43(3): 129-134, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36728570
5.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915823
6.
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Am J Hum Genet
; 104(5): 936-947, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982608
7.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474318
8.
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Genet Med
; 24(11): 2318-2328, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066547
9.
Treatments and Sequelae of Pediatric Pathologic Proximal Femur Fractures Due to Benign Bone Cyst.
J Pediatr Orthop
; 42(6): e661-e666, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35667055
10.
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.
Genet Med
; 23(1): 123-130, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884133
11.
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Am J Med Genet A
; 185(3): 827-835, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296147
12.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
13.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
14.
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
J Pediatr
; 226: 202-212.e1, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553838
15.
A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.
Am J Med Genet A
; 182(3): 543-547, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814264
16.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Am J Hum Genet
; 98(3): 579-587, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942290
17.
Response to Hamosh et al.
Am J Hum Genet
; 108(9): 1809-1810, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478656
18.
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
Am J Med Genet A
; 179(5): 842-845, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828993
19.
Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.
J Genet Couns
; 28(2): 283-291, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964580
20.
Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.
Am J Med Genet C Semin Med Genet
; 178(3): 374-378, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260069