D. Pilz

D. Pilz, S. Morgan, S. Linden, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Joshua D. Smith, V. Lefebvre, T. Pippucci, 2019, American journal of human genetics.

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

D. Pilz, R. Guerrini, D. Mei, 2008, Journal of Medical Genetics.

implications for molecular diagnosis gene in lissencephaly: LIS1 duplicationin the High frequency of genomic deletionsand a

D. Pilz, R. Guerrini, D. Mei, 2008 .

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Ravinesh A. Kumar, M. Topf, D. Pilz, 2010, Human molecular genetics.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

M. Fornerod, L. D. de Vries, A. Afenjar, 2019, American journal of human genetics.

The genetics of lissencephaly

A. Fry, D. Pilz, T. Cushion, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Sahar Mansour, Richard C Trembath, Russell Keenan, 2011, Nature Genetics.

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Colin A. Johnson, R. Hennekam, R. Trembath, 2006, American journal of human genetics.

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

D. Pilz, T. Haaf, A. Brinckmann, 2005, Journal of Medical Genetics.

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

D. Ledbetter, D. Pilz, W. Dobyns, 1998, Genetics in Medicine.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

R. Carrozzo, D. Pilz, S. Petrini, 2018, Autophagy.

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

D. Ledbetter, C. Walsh, M. Ross, 1998, Human molecular genetics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

W. Newman, S. Bhaskar, A. Fry, 2016, Clinical genetics.

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

D. Ledbetter, D. Pilz, W. Dobyns, 2000, Human molecular genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

J. Knight, K. Elliott, D. Pilz, 2021, Brain : a journal of neurology.

Bilateral spontaneously regressed retinoblastoma with preservation of vision

D. Pilz, R. F. Walters, B. Roberts, 1997, Eye.

Familial unilateral Brown syndrome

D. Pilz, N. Kenawy, P. Watts, 2008, Indian journal of ophthalmology.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

The deletions found in MDS patients were frequently de novo and consistently encompassed PAFAH 1 B 1 along with several nearby genes including the YWHAE

A. Fry, D. Pilz, T. Cushion, 2014 .

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

C. B. White, Robert W. Taylor, D. Turnbull, 2006, Pediatric Research.

Neuropsychiatric disease in patients with periventricular heterotopia.

S. Robertson, K. Hamandi, A. Fry, 2013, The Journal of neuropsychiatry and clinical neurosciences.

Rebirthing the Clinic

P. Atkinson, A. Clarke, D. Pilz, 2006 .

Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?

D. Pilz, D. Eccles, C. Kennedy, 2003, Journal of medical genetics.

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

D. Pilz, A. Dalton, T. Jaspan, 1995, Journal of medical genetics.

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

Alice R. Clark, A. R. Clark, S. Robertson, 2015, Journal of Molecular Medicine.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Isolation ofBAC clones spanning theXq22.3 translocation breakpoint inalissencephaly patient with adenovo X;2translocation

D. Ledbetter, D. Pilz, N. Matsumoto, 1998 .

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

G. Kirov, M. Owen, P. Holmans, 2016, BMC Medical Genetics.

Familial gonadal tumours.

P. Harper, D. Pilz, M. Tischkowitz, 1998, Journal of medical genetics.

Baraitser–Winter cerebrofrontofacial syndrome

D. Pilz, D. Pilz, C. Turner, 2017, Clinical genetics.

Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes

D. Pilz, S. Morgan, S. Linden, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, B. Gener, D. Pilz, 2018, American journal of human genetics.