J. Innis

Joseph E Jacher, J. Innis, M. Ghaziuddin, 2019, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.

Nallasivam Palanisamy, Arul M Chinnaiyan, James A Connelly, 2015, JAMA.

Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

C. Bartels, B. La Du, J. Innis, 1996, American journal of human genetics.

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis

Graham F. Brady, S. Camelo-Piragua, J. Innis, 2018, Clinical Diabetes and Endocrinology.

Chromatin structure of simian virus 40-pBR322 recombinant plasmids in COS-1 cells

J. Innis, W. Scott, 1983, Molecular and cellular biology.

Cardiac phenotype in familial partial lipodystrophy

H. Oral, J. Jalife, Z. Şıklar, 2021, Clinical endocrinology.

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

M. Brueckner, C. Basson, S. Aftimos, 2005, Pediatric Research.

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

S. Mundlos, T. M. Williams, Davor Mikulić, 2004, Human molecular genetics.

UvA-DARE ( Digital Academic Repository ) Novel HOXA 13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

P. Scambler, R. Hennekam, L. Holmes, 2017 .

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome

A. Guttmacher, P. Scambler, T. M. Williams, 2002, Human mutation.

Priming the search for HOX mutations.

J. Innis, 2002, Teratology.

Mutation of HOXA13 in hand-foot-genital syndrome

D. Mortlock, J. Innis, 1997, Nature Genetics.

Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome

Colleen D. McCabe, M. Born, J. Dötsch, 2007, American journal of medical genetics. Part A.

Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures.

J. Innis, L. C. Post, Jeffrey W. Innis, 1999, Biology of reproduction.

Familial Large Vestibular Aqueduct Syndrome

N. Shepard, S. Gebarski, A. Griffith, 1996, The Laryngoscope.

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

D. Rader, N. Patni, R. Hegele, 2018, The Journal of clinical endocrinology and metabolism.

The molecular basis of hypodactyly (Hd): a deletion in Hoxa13 leads to arrest of digital arch formation

D. Mortlock, J. Innis, L. C. Post, 1996, Nature Genetics.

Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice.

J. Innis, L. C. Post, 1999, The International journal of developmental biology.

EGF , epithelium and Comparison of Hypodactyly and Hoxa 13 null mice 287 Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa 13 null mice

J. Innis, L. C. Post, 1999 .

A heat-labile factor promotes premature 3' end formation in exon 1 of the murine adenosine deaminase gene in a cell-free transcription system

J. Innis, R. Kellems, R. E. Kellems, 1991, Molecular and cellular biology.

Campomelic Dysplasia: Airway Management in Two Patients and an Update on Clinical-Molecular Correlations in the Head and Neck

G. Green, J. Innis, Garrett R. Griffin, 2011, The Annals of otology, rhinology, and laryngology.

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Bernd Wollnik, Ethylin Wang Jabs, Simeon A Boyadjiev, 2003, American journal of human genetics.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

J. Rosenfeld, B. V. van Bon, M. Fichera, 2011, American journal of human genetics.

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Stephen R. Williams, C. Haldeman-Englert, T. Ezashi, 2021, Scientific Reports.

MeCP2 mutations in children with and without the phenotype of Rett syndrome

E. Hoffman, V. Narayanan, K. Hoffbuhr, 2001, Neurology.

Integrative Clinical Genomics of Metastatic Cancer

Robert J. Lonigro, Daniel F. Hayes, Arul M. Chinnaiyan, 2017, Nature.

Evolution of N-terminal sequences of the vertebrate HOXA13 protein

D. Mortlock, J. Innis, P. Sateesh, 2000, Mammalian Genome.

Developmental Biology: Frontiers for Clinical Genetics: Limb development: molecular dysmorphology is at hand!

D. Mortlock, J. Innis, 1998, Clinical genetics.

Expanded HOXA13 polyalanine tracts in a monotreme

J. Lehoczky, J. Innis, Jeffrey W. Innis, 2008, Evolution & development.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.

J. Rosenfeld, B. Keavney, J. Goodship, 2015, Congenital heart disease.

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

T. Friedman, J. Innis, J. H. Asher, 1998, Journal of medical genetics.

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.

Jun Z. Li, Jishu Xu, F. Hildebrandt, 2011, Journal of pediatric urology.

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

T. Glover, J. Innis, M. Tayeh, 2015, Clinical case reports.

AHDC1 missense mutations in Xia-Gibbs syndrome

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2021, HGG advances.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

W. Chung, Yvonne W Wu, D. Petrey, 2015, neurogenetics.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

S. Levy, T. Hurd, O. Gribouval, 2013, The Journal of clinical investigation.

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Ankita Patel, S. Lalani, D. M. Martin, 2015, American journal of medical genetics. Part A.

ipt Recurrent Deletions and Duplications of Chromosome 2 q 11 . 2 and 2 q 13 are Associated with Variable Outcomes

Donna M. Martin, Ankita Patel, S. Lalani, 2015 .

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

M. Hannibal, J. Bedoyan, J. Innis, 2022, American journal of medical genetics. Part A.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Sequence requirements for transcriptional arrest in exon 1 of the human adenosine deaminase gene

D. Wright, Z. Chen, J. Innis, 1991, Molecular and cellular biology.

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion

J. Innis, Todd Ackley, Shane C. Quinonez, 2011, American journal of medical genetics. Part A.

Craniofacial dyssynostosis in two boys with apparently normal cognitive development

K. Muraszko, C. Keegan, S. Buchman, 2006, American journal of medical genetics. Part A.

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation

M. Vikkula, T. Glover, J. García-Pérez, 2012, American journal of medical genetics. Part A.

Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

I. Krantz, N. Spinner, L. Jackson, 2005, American journal of medical genetics. Part A.

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

R. Iyer, J. Bedoyan, J. Innis, 2011, American journal of medical genetics. Part A.

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

M. Russell, J. Bernat, J. Innis, 2014, Human molecular genetics.

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Donna M. Martin, Ayesha Ahmad, M. Hannibal, 2019, Pediatric Research.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Jay Shendure, Michael J Bamshad, Deborah A Nickerson, 2012, American journal of human genetics.

Identification and prevention of a GC content bias in SAGE libraries.

E. H. Margulies, S. Kardia, J. Innis, 2001, Nucleic acids research.

A genomic approach to the identification and characterization of HOXA13 functional binding elements

Colleen D. McCabe, J. Innis, 2005, Nucleic acids research.

Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability.

David E. Misek, R. Kuick, S. Hanash, 2005, Developmental biology.

Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long‐range enhancer existed before cluster duplication

J. Lehoczky, J. Innis, Melissa E. Williams, 2004, Evolution & development.

Of fingers, toes and penises

D. Duboule, T. Kondo, J. Zákány, 1997, Nature.

Analysis of De Novo HOXA13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation

C. Keegan, K. Owens, D. Roulston, 2013, American journal of medical genetics. Part A.

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

T. Glover, J. Innis, S. Dagenais, 2001, American journal of human genetics.

Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.

M. McDonald, J. Innis, S. Maynard, 1994, American journal of medical genetics.

Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability

T. Gelehrter, J. Innis, Thomas M. Williams, 2005, Nucleic acids research.

A group 13 homeodomain is neither necessary nor sufficient for posterior prevalence in the mouse limb.

J. Lehoczky, J. Innis, Melissa E. Williams, 2006, Developmental biology.

Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.

T. Friedman, T. Glover, J. Innis, 1997, American journal of medical genetics.

5'-transcribed sequences from large genomic clones. An efficient method for isolating putative promoters and

M. Nelson, D. Mortlock, J. Innis, 2011 .

An efficient method for isolating putative promoters and 5'-transcribed sequences from large genomic clones.

M. Nelson, D. Mortlock, J. Innis, 1996, Genome research.

Human HOX gene disorders.

J. Innis, Shane C. Quinonez, 2014, Molecular genetics and metabolism.

Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2–q34.3

Ayesha Ahmad, R. Iyer, J. Innis, 2012, American journal of medical genetics. Part A.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction.

J. Innis, Thomas M. Williams, Melissa E. Williams, 2005, Developmental biology.

Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth.

P. Sieving, J. Innis, R. Weatherly, 1998, American journal of medical genetics.

A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice

J. Nadeau, J. Lehoczky, A. Borowsky, 2013, PLoS genetics.

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings

P. Hedera, T. Glover, J. Innis, 2012, American journal of medical genetics. Part A.

Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease

S. Oprescu, A. Antonellis, A. Amalfitano, 2018, Human mutation.

Functional Analysis ofa Stable Transcription Arrest Sitein theFirst Intron oftheMurineAdenosine Deaminase Gene

J. Innis, 1993 .

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal

J. Lehoczky, S. Archer, W. Dobyns, 2004, American journal of medical genetics. Part A.

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

M. Westerhoff, J. Innis, N. Parikh, 2019, Clinical Diabetes and Endocrinology.

Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations

J. Douglas, J. Lehoczky, W. Cai, 2006, Mammalian Genome.

A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification

J. Innis, S. Mian, Jasmine Y Serpen, 2023, Genes.

The murine adenosine deaminase promoter requires an atypical TATA box which binds transcription factor IID and transcriptional activity is stimulated by multiple upstream Sp1 binding sites.

S. Kash, D. J. Moore, J. Innis, 1991, The Journal of biological chemistry.

Orientation of the Hoxa complex and placement of the Hd locus distal to Hoxa2 on mouse Chromosome 6

T. Yang, D. Mortlock, J. Innis, 1996, Mammalian Genome.

CHROMOSOMAL REARRANGEMENTS IN PATIENTS WITH CONGENITAL CARDIAC DEFECTS: A META-ANALYSIS REVEALS NOVEL POTENTIAL CRITICAL REGIONS INVOLVED IN HEART DEVELOPMENT

M. Russell, S. Zoellner, J. Innis, 2013 .

Two highly polymorphic CA repeats in the Menkes gene (ATP7A)

T. Glover, J. Innis, H. Dierick, 1995, Human Genetics.

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic

J. Innis, Lev Prasov, A. Jacobson, 2023, Genes.

eSAGE: managing and analysing data generated with Serial Analysis of Gene Expression (SAGE)

Elliott H. Margulies, Jeffrey W. Innis, J. Innis, 2000, Bioinform..

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia

R. Iyer, J. Bedoyan, J. Innis, 2011, American journal of medical genetics. Part A.

Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability.

David E. Misek, R. Kuick, S. Hanash, 2005, Developmental biology.

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Margaret Y. Nettleton, S. Levy, R. Lifton, 2015, The Journal of clinical investigation.

Analysis of De Novo HOXA13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation

C. Keegan, K. Owens, D. Roulston, 2013, American journal of medical genetics. Part A.

Familial syndromic esophageal atresia maps to 2p23-p24.

J. Celli, H. Bokhoven, R. Hennekam, 2000, American journal of human genetics.

Sequence Requirements forTranscriptional Arrest inExon1ofthe HumanAdenosine Deaminase Gene

J. Innis, Zhi Chen, E. Rodney, 1991 .