Author details

Full Name

Deborah Bartholdi

Affiliation

ORCID

Career Start Year

1995

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37355399	Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.		2023
37055165	Biallelic variants in cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.		2023
35156297	Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.	Acta Physiologica	2022
35410415	Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.	Pediatric Rheumatology	2022
32724172	Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.	Genet Med	2020
31455979	Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.	International Journal of Legal Medicine	2019
29144511	Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.	Genet Med	2018
29445489	Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.	Clin Case Rep	2018
29323927	Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1.	American Journal of Respiratory and Critical Care Medicine	2018
29321670	Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.	Eur J Hum Genet	2018
29194874	Late-onset severe long QT syndrome.	Annals of Noninvasive Electrocardiology	2018
28245802	Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.	BMC Medical Genetics	2017
27773430	Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.	Am J Hum Genet	2016
27164704	Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.	Neurology	2016
24939587	Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?	Eur J Hum Genet	2015
25522177	Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.	Clin Genet	2015
24853125	Transient myeloproliferative disorder in neonates without Down syndrome: case report and review.	European Journal of Haematology	2015
24919595	High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.	Prenatal Diagnosis	2014
24272827	GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.	Ann Neurol	2014
24301056	Further delineation of the SATB2 phenotype.	Eur J Hum Genet	2014
24667537	Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling.	PLoS Biology	2014
24664804	A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.	American Journal of Medical Genetics, Part A	2014
25106414	The clinical significance of small copy number variants in neurodevelopmental disorders.	J Med Genet	2014
23273569	Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.	American Journal of Human Genetics	2013
24168795	[Genetic testing in the fetus and child].	Therapeutische Umschau. Revue therapeutique	2013
23794250	Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.	American Journal of Medical Genetics, Part A	2013
23442826	Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.	Orphanet Journal of Rare Diseases	2013
22095942	Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.	Hum Mutat	2012
23020937	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.	Lancet	2012
23434854	Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.	Nephron Physiol	2012
23125460	Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.	J Med Genet	2012
21706002	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.	Nat Genet	2011
19810119	Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.	Hum Mutat	2009
19367324	BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.	Eur J Hum Genet	2009
19684605	Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.	Nat Genet	2009
19066168	Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.	J Med Genet	2009
18262484	Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.	Eur J Med Genet	2008
18297069	Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.	Nat Genet	2008
18342593	Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis.	Eur J Med Genet	2008
17236192	A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.	Am J Med Genet A	2007
17220215	Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.	Journal of Medical Genetics	2007
16630165	Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.	Clin Genet	2006
16636652	Identification of the genetic defect in the original Wagner syndrome family.	Molecular Vision	2006
15578038	Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.	European Journal of Human Genetics	2005
15706485	Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.	Am J Hum Genet	2005
14999499	Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.	J Neurol	2004
15258798	Viper snakebite causing symptomatic intracerebral haemorrhage.	Journal of Neurology	2004
10714583	Absence of SMN gene deletion in post-polio syndrome.	Neuromuscular Disorders	2000
10205267	The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements.	American Journal of Human Genetics	1999
9633812	Oligodendroglial reaction following spinal cord injury in rat: transient upregulation of MBP mRNA.	GLIA	1998