I. Wentzensen

发表

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

Response to androgen therapy in patients with dyskeratosis congenita

S. Savage, N. Giri, B. Alter, 2014, British journal of haematology.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Chanjae Lee, Leslie G. Biesecker, John B. Wallingford, 2017, Cold Spring Harbor molecular case studies.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

E. Kossoff, D. Batista, Carolyn D Applegate, 2014, Developmental medicine and child neurology.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

Genetic evaluation including exome sequencing of two patients with Gomez‐Lopez‐Hernandez syndrome: Case reports and review of the literature

C. Stevens, I. Wentzensen, I. Anderson, 2020, American journal of medical genetics. Part A.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

E. van Binsbergen, J. Baptista, K. Gripp, 2021, European Journal of Human Genetics.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Adam C Gunning, E. Zackai, H. Hakonarson, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The Association of Telomere Length and Cancer: a Meta-analysis

R. Pfeiffer, L. Mirabello, S. Savage, 2011, Cancer Epidemiology, Biomarkers & Prevention.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

R. Pfundt, S. Szelinger, V. Narayanan, 2019, American journal of human genetics.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

I. Krantz, L. Medne, E. Beaver, 2017, Journal of Medical Genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

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

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

A. Serretti, A. Fatemi, K. Gripp, 2018, Clinical genetics.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

V. Shashi, K. Schoch, B. Dallapiccola, 2021, American journal of medical genetics. Part A.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

N. Brown, H. Peeters, E. Eichler, 2020, American journal of human genetics.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

R. Hochstenbach, Q. Waisfisz, R. Person, 2019, American journal of medical genetics. Part A.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Cheol‐Hee Kim, C. Skinner, R. Stevenson, 2020, Nature Communications.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

Epidemiologic evidence for a role of telomere dysfunction in cancer etiology.

S. Savage, I. De Vivo, J. Prescott, 2012, Mutation research.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

B. V. van Bon, R. Pfundt, G. Cooper, 2019, American journal of human genetics.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Julie C. Sapp, L. Biesecker, J. Graham, 2015, Human Genome Variation.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

M. Lyons, R. Person, C. Ferreira, 2019, European Journal of Human Genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita.

S. Savage, N. Giri, B. Alter, 2012 .

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

W. Chung, S. Leal, F. Zou, 2021, Journal of Medical Genetics.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

W. Chung, P. Jayakar, M. Marble, 2021, Genetics in Medicine.

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.

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.

A. Patenaude, L. Strong, M. Greene, 2012, Cancer genetics.

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

D. Chitayat, T. Roscioli, Futao Zhang, 2023, American journal of medical genetics. Part A.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

C. Nellåker, F. Alkuraya, D. Lacombe, 2021, Clinical genetics.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Whitney J. Smith, R. Redon, J. Rosenfeld, 2022, American journal of human genetics.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

K. Dent, J. Thevenon, L. Faivre, 2020, American journal of medical genetics. Part A.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

H. Mefford, F. Brancati, M. McDonald, 2021, HGG advances.

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

B. Burton, M. Deardorff, E. Bedoukian, 2017, Clinical genetics.

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

K. Retterer, J. Juusola, M. Cho, 2017, Clinical genetics.

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

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

D. Viskochil, R. Schnur, H. Sticht, 2023, Pediatric neurology.

Epidemiologic evidence for a role of telomere dysfunction in cancer etiology.

S. Savage, I. De Vivo, J. Prescott, 2012, Mutation research.

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

R. Maroofian, R. Abou Jamra, G. Varshney, 2023, Genome Medicine.

Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg

Denise L. Perry, A. Moreno-De-Luca, Amanda R. Clause, 2020, Molecular Syndromology.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

A. Telegrafi, C. Phornphutkul, M. Osmond, 2024, American journal of human genetics.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

C. Poulton, S. Lakhani, G. Chapman, 2024, The Journal of clinical investigation.

Role of CAMK2D in neurodevelopment and associated conditions.

J. Rosenfeld, F. Xia, Tzung-Chien Hsieh, 2024, American journal of human genetics.