Detalhe da pesquisa
1.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet
; 108(1): 134-147, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340455
2.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
3.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
4.
Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand.
Australas J Dermatol
; 63(1): 62-67, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34905622
5.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692161
6.
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.
J Hum Genet
; 65(9): 743-750, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313197
7.
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Am J Med Genet A
; 182(5): 994-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32091183
8.
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
J Med Genet
; 54(12): 825-829, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28592524
9.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
10.
Development of a cardiac inherited disease service and clinical registry: A 15-year perspective.
Am Heart J
; 209: 126-130, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30686478
11.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Am J Med Genet A
; 164A(12): 3027-34, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25258245
12.
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Eur J Hum Genet
; 31(12): 1430-1439, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673932
13.
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
Neurol Genet
; 7(1): e554, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977140
14.
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
Pediatr Blood Cancer
; 55(4): 722-4, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20806366
15.
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.
Allergy Asthma Clin Immunol
; 6(1): 12, 2010 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20529312
16.
Spinocerebellar Ataxia type 29 in a family of Maori descent.
Cerebellum Ataxias
; 6: 14, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31632679
17.
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Wellcome Open Res
; 3: 46, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29900417
18.
Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association.
Clin Dysmorphol
; 15(1): 1-8, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16317299
19.
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Neuromuscul Disord
; 26(11): 744-748, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27751653
20.
Detection of sudden death syndromes in New Zealand.
N Z Med J
; 129(1445): 67-74, 2016 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27857240