Detalhe da pesquisa
1.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33568816
2.
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Am J Hum Genet
; 109(3): 457-470, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35120630
3.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37580113
4.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35861666
5.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
J Clin Immunol
; 43(7): 1566-1580, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37273120
6.
Biotinidase deficiency: What have we learned in forty years?
Mol Genet Metab
; 138(4): 107560, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37027963
7.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Clin Genet
; 104(2): 230-237, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37038048
8.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36779427
9.
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
J Med Genet
; 59(3): 262-269, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33397746
10.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34321323
11.
[Management of genetic renal disorders: local experience and importance of the network]. / Prise en charge des maladies rénales génétiques : expérience locale et importance du réseau.
Rev Med Suisse
; 19(832): 1245-1249, 2023 Jun 21.
Artigo
Francês
| MEDLINE | ID: mdl-37341318
12.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum Mol Genet
; 29(13): 2250-2260, 2020 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32533184
13.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31761294
14.
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Am J Med Genet A
; 188(1): 319-325, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34580982
15.
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Hum Mutat
; 42(8): 1005-1014, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34057271
16.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34163037
17.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33586135
18.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Am J Med Genet A
; 185(12): 3831-3837, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34296525
19.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33398909
20.
Elevated lactate in Mauriac syndrome: still a mystery.
BMC Endocr Disord
; 21(1): 172, 2021 Aug 21.
Artigo
Inglês
| MEDLINE | ID: mdl-34419042