J. Atkin

发表

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

J. Shendure, J. Rosenfeld, B. V. van Bon, 2012, Nature Genetics.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.

R. Weksberg, D. Chitayat, J. Squire, 2001, Genomics.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Leigh Disease With Mitochondrial DNA A8344G Mutation: Case Report and Brief Review

J. Atkin, D. Boue, G. Herman, 2003, Journal of child neurology.

Verification of the fetal valproate syndrome phenotype.

S. Clarren, J. Atkin, L. Elsas, 1988, American journal of medical genetics.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, American journal of medical genetics. Part A.

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

J. Rosenfeld, R. Tervo, B. Torchia, 2011, Molecular Syndromology.

Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism.

M. Bitner-Glindzicz, J. Atkin, M. Ishii, 2005, The Journal of investigative dermatology.

X-Linked Infantile Periodic Alternating Nystagmus

R. Hertle, J. Atkin, Dongsheng Yang, 2005, Ophthalmic genetics.

Microarray comparative genomic hybridization and cytogenetic characterization of tissue‐specific mosaicism in three patients

J. Gastier-Foster, T. Slavin, R. Pyatt, 2012, American journal of medical genetics. Part A.

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kandamurugu Manickam, Thomas W Prior, J. Atkin, 2010, Autism research : official journal of the International Society for Autism Research.

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

William W. Cohen, L. Shaffer, E. Zackai, 2009, Human molecular genetics.

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

J. Gastier-Foster, J. Atkin, S. Hickey, 2013, European journal of medical genetics.

A new X-linked mental retardation syndrome.

J. Atkin, W. Smith, S. Patil, 1985, American journal of medical genetics.

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

J. Gusella, C. Morton, M. Talkowski, 2016, Human molecular genetics.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

Duplication of the distal segment of 14q.

J. Atkin, S. Patil, 1983, American journal of medical genetics.

Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [Gγ63(E7)His→Leu, CAT>CTT]

J. Atkin, A. Kutlar, L. Zhuang, 2008, Hemoglobin.

Familial digeorge syndrome in 7 children

J. Atkin, Y. Hsia, A. Sommer, 1982 .

Apparently new oculo-cerebro-acral syndrome.

J. Atkin, S. Patil, 1984, American journal of medical genetics.

2010 Publications - The Biopathology Center

P. Stankiewicz, J. Gastier-Foster, J. Mendell, 2010 .

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

J. Gastier-Foster, R. Pyatt, J. Atkin, 2013, European journal of medical genetics.