Detalhe da pesquisa
1.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet;
110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36933558
2.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int;
105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38154558
3.
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.
J Hum Genet;
2024 Apr 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38632380
4.
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Hum Genomics;
17(1): 30, 2023 03 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36978159
5.
High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.
Pediatr Res;
2024 May 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38734812
6.
Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.
Prenat Diagn;
2024 Apr 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38687007
7.
Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.
Prenat Diagn;
44(3): 270-279, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38221678
8.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn;
44(4): 511-518, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38353311
9.
The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities.
Am J Perinatol;
2024 Apr 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38688298
10.
Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.
Arch Gynecol Obstet;
2024 Mar 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38494511
11.
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Am J Hum Genet;
106(4): 467-483, 2020 04 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32220291
12.
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.
Clin Genet;
104(2): 275-276, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37096293
13.
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
Am J Med Genet A;
191(10): 2551-2557, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37357910
14.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A;
191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37377026
15.
A call for public funding of invasive and non-invasive prenatal testing.
J Perinat Med;
51(8): 992-996, 2023 Oct 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37207994
16.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat;
43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35170830
17.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet;
105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31495489
18.
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.
Genome Res;
29(3): 428-438, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30787035
19.
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Clin Genet;
101(5-6): 517-529, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35315053
20.
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
Clin Genet;
101(2): 265-266, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34786696