Tania Attié-Bitach

What is she best known for?

The fields of study she is best known for:

• Gene
• Mutation
• Genetics

Her primary areas of study are Genetics, Mutation, Joubert syndrome, RPGRIP1L and Meckel syndrome. Her work is connected to Ciliopathies, Ciliopathy, Phenotype, Gene and Ciliogenesis, as a part of Genetics. Her study looks at the relationship between Ciliopathies and fields such as Cilium, as well as how they intersect with chemical problems.

The study incorporates disciplines such as Cortical dysplasia and In situ hybridization in addition to Mutation. Her study looks at the intersection of RPGRIP1L and topics like TMEM67 with CC2D2A. Her study in Meckel syndrome is interdisciplinary in nature, drawing from both Polydactyly, Endocrinology and Internal medicine.

Her most cited work include:

• Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (649 citations)
• The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (380 citations)
• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome (280 citations)

What are the main themes of her work throughout her whole career to date?

Her primary scientific interests are in Genetics, Pathology, Fetus, Phenotype and Gene. Her study in Ciliopathies, Ciliopathy, Mutation, Cilium and Exome sequencing is carried out as part of her Genetics studies. Her Ciliopathies research also works with subjects such as

• Joubert syndrome which connect with RPGRIP1L, Meckel syndrome and TMEM67,
• Polydactyly and related Meckel-Gruber Syndrome and Genetic heterogeneity.

Her research in Pathology focuses on subjects like Microcephaly, which are connected to Haploinsufficiency. Tania Attié-Bitach works mostly in the field of Fetus, limiting it down to topics relating to Corpus callosum and, in certain cases, Intellectual disability, as a part of the same area of interest. Her Phenotype research incorporates elements of Genotype and Mutation.

She most often published in these fields:

• Genetics (71.65%)
• Pathology (33.33%)
• Fetus (32.57%)

What were the highlights of her more recent work (between 2018-2021)?

• Genetics (71.65%)
• Fetus (32.57%)
• Phenotype (27.59%)

In recent papers she was focusing on the following fields of study:

Tania Attié-Bitach mainly focuses on Genetics, Fetus, Phenotype, Gene and Pathology. Her study in the field of Missense mutation, Exome sequencing and Mutation is also linked to topics like TAR syndrome and Exon junction complex. Her Fetus research includes themes of Genetic counseling, Corpus callosum and Pediatrics.

Her Phenotype study incorporates themes from Mutation, Corpus Callosum Agenesis, Kinase activity and Neurodevelopmental disorder. Her work in the fields of Gene, such as Ciliopathies, Ciliopathy and Messenger RNA, intersects with other areas such as Value. Her research investigates the link between Pathology and topics such as Microcephaly that cross with problems in Micrencephaly, Meningoencephalitis, Hydrocephalus and Meningitis.

Between 2018 and 2021, her most popular works were:

• Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2. (75 citations)
• Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. (19 citations)
• Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. (13 citations)

In her most recent research, the most cited papers focused on:

• Gene
• Mutation
• Genetics

Her primary areas of investigation include Fetus, Microcephaly, Pathology, Sonic hedgehog and Pregnancy. Her Fetus research is multidisciplinary, incorporating elements of Cystic kidney, Bardet–Biedl syndrome, Disease, Ciliopathy and Genotype. Her studies deal with areas such as Mutation, Missense mutation, Phenotype and Neuropathology as well as Microcephaly.

Her work deals with themes such as Prenatal diagnosis, Congenital cataracts, Arthrogryposis and Pontocerebellar hypoplasia, which intersect with Pathology. Her work deals with themes such as Smoothened Receptor, Ciliopathies, Hedgehog signaling pathway and Cell biology, which intersect with Sonic hedgehog. Her biological study focuses on Ciliogenesis.

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