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» Authors » Matthew A Deardorff

Matthew A Deardorff

Explore the profile of Matthew A Deardorff including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 127
Citations 4242
Followers 0
Related Specialties
Genetics
Molecular Biology
Pediatrics
Top 10 Co-Authors
Ian D Krantz
Elaine H Zackai
Maninder Kaur
Laura K Conlin
Dinah Clark
Hakon Hakonarson
Antonie D Kline
Nancy B Spinner
Jennifer M Kalish
Frank J Kaiser
Published In
Am J Med Genet A
Am J Hum Genet
J Med Genet
Eur J Hum Genet
Hum Mol Genet
Affiliations
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Recent Articles
1.
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of Cause KBG Syndrome
Iwata-Otsubo A, Rippert A, Balciuniene J, Fiordaliso S, Chen R, Markose P, et al.
Genes (Basel) . 2025 Feb; 16(2). PMID: 40004465
KBG syndrome is a multisystem developmental disorder characterized by macrodontia of the upper permanent incisors, distinctive facial features, a short stature, developmental delay, variable intellectual disability, and behavioral issues. Heterozygous...
2.
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Hahn E, Dharmadhikari A, Markowitz A, Estrine D, Quindipan C, Maggo S, et al.
NPJ Genom Med . 2025 Feb; 10(1):16. PMID: 39984494
Exome sequencing is the current standard for diagnosing Mendelian disorders; however, it is generally not considered the first-line test for detecting copy number variants (CNVs). We retrospectively investigated the additional...
3.
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders
Srivastava S, Cole J, Cohen J, Chopra M, Smith H, Deardorff M, et al.
Ann Neurol . 2024 Sep; 96(5):900-913. PMID: 39319594
Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve...
4.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Ansari M, Faour K, Shimamura A, Grimes G, Kao E, Denhoff E, et al.
HGG Adv . 2024 Feb; 5(2):100273. PMID: 38297832
Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism....
5.
Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features
Ansari M, Faour K, Shimamura A, Grimes G, Kao E, Denhoff E, et al.
medRxiv . 2023 Oct; PMID: 37808847
Heterozygous missense variants and in-frame indels in are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However,...
6.
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development
Izumi K, Ganetzky R, Wertheim G, Skraban C, Bedoukian E, Wilkens A, et al.
Mol Syndromol . 2023 Aug; 14(4):303-309. PMID: 37589028
Background: Pallister-Killian syndrome (PKS) is typically recognized by its features that include developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome...
7.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, et al.
Am J Med Genet A . 2023 Jun; 191(8):2113-2131. PMID: 37377026
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial,...
8.
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome
Matalon D, Bhoj E, Li D, McDougall C, Schindewolf E, Khalek N, et al.
Am J Med Genet A . 2023 Jan; 191(4):977-982. PMID: 36610046
Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (MIM 246570) is a rare disorder characterized by specific skeletal findings (fibular aplasia, shortened or bowed tibia, and oligosyndactyly of the foot...
9.
Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium
Sanfilippo C, Javaheri M, Handler S, Berry J, Cobrinik D, Deardorff M, et al.
Ophthalmology . 2022 Oct; 130(3):265-273. PMID: 36270406
Purpose: To report the clinical and imaging findings of 4 patients with benign intraretinal tumors, 2 of which were associated with retinal pigment epithelium (RPE) hypertrophy. To our knowledge, this...
10.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Mattison K, Tossing G, Mulroe F, Simmons C, Butler K, Schreiber A, et al.
Brain . 2022 Sep; 146(4):1357-1372. PMID: 36074901
The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking...