Elaine H Zackai

发表

Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.

Agatha D. Lee, Theo G M van Erp, Donna McDonald-McGinn, 2009, Cerebral cortex.

Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders

Mahdi Sarmady, Avni Santani, Kajia Cao, 2015, American journal of medical genetics. Part A.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Lorraine Potocki, Pawel Stankiewicz, Weimin Bi, 2007, American journal of human genetics.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Stephen T Warren, Somayyeh Fahiminiya, E. Zackai, 2012, Journal of Medical Genetics.

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Laura K Conlin, Livija Medne, Hakon Hakonarson, 2010, Human molecular genetics.

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

Zhe Zhang, Ryuichiro Nakato, Matthew C Dulik, 2015, Nature Genetics.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Xiaowu Gai, Laura K Conlin, Livija Medne, 2009, Genome research.

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

Stephan Eliez, Abraham Weizman, Wanda Fremont, 2014, The American journal of psychiatry.

CMIP haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues

Laura K Conlin, Minjie Luo, E. Zackai, 2017, American journal of medical genetics. Part A.

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

Dmitry Isaev, Kosha Ruparel, Eileen Daly, 2020, The American journal of psychiatry.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Anna Lindstrand, Michael J Parker, Avni Santani, 2015, American journal of human genetics.