A. Innes

发表

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

A locus for Bowen–Conradi syndrome maps to chromosome region 12p13.3

A. Innes, C. Greenberg, J. Loredo-Osti, 2005, American journal of medical genetics. Part A.

Genetic landmarks through philately – Henry Louis ‘Lou’ Gehrig and amyotrophic lateral sclerosis

A. Chudley, A. Innes, 1999, Clinical genetics.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

K. R. Jun, J. Rosenfeld, J. Schneider, 2016, Cell Death and Differentiation.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

D. Wieczorek, V. Proud, P. Lebon, 2010, Arthritis and rheumatism.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy

R. Wanders, C. Roe, C. Greenberg, 2000, Pediatric Research.

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

I. Harting, E. Boltshauser, D. Rating, 2007, Neuropediatrics.

Congenital rickets caused by maternal vitamin D deficiency.

C. Greenberg, A. Chudley, C. Prasad, 2002, Paediatrics & child health.

Au-Kline Syndrome

A. Kline, P. Au, A. Innes, 2019 .

Familial trigeminal neuralgia. Case report and review of the literature.

G. Steinberg, A. Innes, I. Fleetwood, 2001, Journal of neurosurgery.

Adult MTM1-related myopathy carriers

A. Arai, C. Bönnemann, S. Donkervoort, 2019, Neurology.

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

G. Zamponi, A. Innes, I. A. Souza, 2021, Molecular brain.

Rhabdomyosarcoma in a patient with Cardio-Facio-Cutaneous syndrome.

A. Chudley, A. Innes, 2000, Journal of pediatric hematology/oncology.

The Role of PIEZO2 in Human Mechanosensation.

C. Bönnemann, D. Bharucha-Goebel, S. Donkervoort, 2016, The New England journal of medicine.

Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.

J. Thompson, C. Greenberg, C. Prasad, 2001, Molecular genetics and metabolism.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

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.

Identification of eight novel NSD1 mutations in Sotos syndrome

N. Niikawa, K. Yoshiura, N. Matsumoto, 2003, Journal of medical genetics.

Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion.

A. Innes, 2005 .

Interstitial 4p deletion in a child with an Angelman syndrome‐like phenotype

A. Chudley, N. Carson, A. Innes, 1999, Clinical genetics.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Steven J. M. Jones, Anthony P. Fejes, M. Tekin, 2012, American journal of human genetics.

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.

C. Greenberg, A. Chudley, A. Innes, 2001, American journal of medical genetics.

Bowen-Conradi syndrome in non Hutterite infant.

R. Lowry, A. Innes, 2002, Clinical dysmorphology.

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.

A founder mutation in BBS2 is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

E. Puffenberger, K. Boycott, C. Beaulieu, 2010, Clinical genetics.

Intracerebral hemorrhage in a young man

S. Coutts, J. Kohlhase, A. Innes, 2011, Canadian Medical Association Journal.