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Patrick Nitschké

Affiliation : Inserm · Institut des Maladies Génétiques Imagine · Université Paris Descartes · Structure fédérative de recherche Necker

• 10Publications (affiliation in France)
• 266Total publications
• 18632Citations
• 68h-index

ORCIDOpenAlex

Research profile

Patrick Nitschké has 10 indexed publications (2010–2021). Their work appears mainly in “The American Journal of Human Genetics”, “Frontiers in Endocrinology” and “bioRxiv (Cold Spring Harbor Laboratory)”. Their most cited article, “TCTN3 Mutations Cause Mohr-Majewski Syndrome” (2012), has been cited 134 times. 2 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Morocco, Tunisia.

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Research areas

• Genomics and Rare Diseases
• Genetics and Neurodevelopmental Disorders
• Genetic and Kidney Cyst Diseases
• Immunodeficiency and Autoimmune Disorders
• Fetal and Pediatric Neurological Disorders

Publications (10)

• High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis
  2021 · Frontiers in Endocrinology · cited 33 times
• Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes
  2019 · bioRxiv (Cold Spring Harbor Laboratory) · cited 2 times
• Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations
  2018 · Thyroid · cited 29 times
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
  2017 · Nature Genetics · cited 132 times
• FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
  2017 · The American Journal of Human Genetics · cited 95 times
• Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
  2015 · European Journal of Human Genetics · cited 41 times
• Refining the phenotype associated with CASC5 mutation
  2015 · Neurogenetics · cited 23 times
• A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
  2014 · Journal of the American Society of Nephrology · cited 119 times
• TCTN3 Mutations Cause Mohr-Majewski Syndrome
  2012 · The American Journal of Human Genetics · cited 134 times
• High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
  2010 · Human Mutation · cited 33 times

Publication venues

• The American Journal of Human Genetics × 2
• Frontiers in Endocrinology × 1
• bioRxiv (Cold Spring Harbor Laboratory) × 1
• Thyroid × 1
• Nature Genetics × 1
• European Journal of Human Genetics × 1

Publications per year

• 20211
• 20191
• 20181
• 20172
• 20152
• 20141
• 20121
• 20101

Collaborations

Partner institutions : Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris · Sorbonne Paris Cité · Institut Necker Enfants Malades · Université Paris Cité

Co-authors’ countries : Morocco · Tunisia

Co-authors

• Christine Bôle‐Feysot
• Stanislas Lyonnet
• Sophie Thomas
• Arnold Münnich
• Bettina Bessières
• Jéléna Martinovic
• Michel Polak
• Laurence Lœuillet
• Aurore Carré
• Cécile Masson
• Jean‐François Deleuze
• Maryse Bonnière

Bibliographic data from OpenAlex (open database).