K. Walz

发表

Intellectual disability, the long way from genes to biological mechanisms

Juan I. Young, Marcelo Martí, M. Millán, 2020 .

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

Juan I. Young, A. Srivastava, C. Abad, 2017, Biology.

Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival

Juan I. Young, X. Liu, C. Abad, 2020, Frontiers in Cell and Developmental Biology.

Transient Receptor Potential Channel 6 (TRPC6) Protects Podocytes during Complement-mediated Glomerular Disease*

S. Dryer, A. Kistler, D. Kerjaschki, 2013, The Journal of Biological Chemistry.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Lei Cao, A. Srivastava, K. Walz, 2011, European Journal of Human Genetics.

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

J. Lupski, R. Paylor, Cheng Chi Lee, 2003, Human molecular genetics.

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

M. Tekin, X. Liu, S. Blanton, 2014, Proceedings of the National Academy of Sciences.

Long-range cis-regulatory elements controlling GDF6 expression are essential for cochlear development.

D. Dykxhoorn, M. Tekin, C. Morton, 2020, The Journal of clinical investigation.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

K. Steel, N. Ingham, I. Karakikes, 2022, Proceedings of the National Academy of Sciences of the United States of America.

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

M. Tekin, D. Duman, K. Walz, 2013, Pediatric Nephrology.

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

Juan I. Young, Alexander J Abrams, K. Walz, 2011, European Journal of Human Genetics.

Transdisciplinary Perspectives on Precision Medicine

W. Scott, H. Myers, Alecia M. Fair, 2021, Health equity.

Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS

Juan I. Young, P. Ruiz, K. Walz, 2014, British journal of medicine and medical research.

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.

S. Scherer, Mark Zander, P. Neilsen, 2015, Developmental cell.

Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome

L. Potocki, K. Walz, D. Barbouth, 2019, American journal of medical genetics. Part A.

Correction: Tubular Overexpression of Gremlin Induces Renal Damage Susceptibility in Mice

J. Egido, D. Carpio, K. Walz, 2014, PLoS ONE.

Tubular Overexpression of Gremlin Induces Renal Damage Susceptibility in Mice

J. Egido, D. Carpio, K. Walz, 2014, PloS one.

TRPC6 protects podocytes from complement-mediated injury

Dinda, S. Dryer, A. Kistler, 2013 .

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Juan I. Young, M. Tekin, F. Brancati, 2015, Human Genetics.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

S. Blanton, T. Haaf, R. Maroofian, 2018, Human Genetics.

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.

P. Stankiewicz, K. Walz, M. Khajavi, 2003, Cold Spring Harbor symposia on quantitative biology.

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

K. Walz, P. Carmona-Mora, 2010, Current genomics.

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

Juan I. Young, Lei Cao, K. Walz, 2010, BMC Molecular Biology.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

J. Lupski, Meredith Wilson, W. Bi, 2004, Human Genetics.

Animal models for human contiguous gene syndromes and other genomic disorders

J. Lupski, K. Walz, P. Fonseca, 2004 .

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

L. Shaffer, P. Stankiewicz, J. Lupski, 2002, Genome research.

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

J. Lupski, S. Girirajan, P. Saha, 2012, PLoS genetics.

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

Juan I. Young, J. Chrast, A. Reymond, 2010, PLoS biology.

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

S. Scherer, Mark Zander, P. Neilsen, 2015, SpringerPlus.

CRISPR-Cas Technology as a Tool to Create Animal Models for Biomedical Research

Katherina Walz, Abhiraami Kannan Sundhari, Shalini Kamu Reddy, 2019, Cellular and Animal Models in Human Genomics Research.

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance

J. Lupski, A. Bradley, H. Vogel, 2003, Molecular and Cellular Biology.

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.

Juan I. Young, K. Walz, Sylvia Sura-Trueba, 2010, Human molecular genetics.

COP9 Signalosome Subunit 3 Is Essential for Maintenance of Cell Proliferation in the Mouse Embryonic Epiblast

J. Lupski, M. Justice, A. Bradley, 2003, Molecular and Cellular Biology.

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

G. Bademci, C. Abad, K. Walz, 2018, Journal of Molecular Medicine.

Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes

K. Walz, P. Carmona-Mora, C. Encina, 2009, Current genomics.

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

J. Lupski, R. Paylor, W. Bi, 2006, The Journal of clinical investigation.

The Mouse, a Model Organism for Biomedical Research

K. Walz, Cesar P. Canales, 2019, Cellular and Animal Models in Human Genomics Research.

Podocyte-Specific Overexpression of Wild Type or Mutant Trpc6 in Mice Is Sufficient to Cause Glomerular Disease

Juan I. Young, P. Ruiz, K. Walz, 2010, PloS one.

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Juan I. Young, M. Tekin, F. Brancati, 2015, Human Genetics.

Introduction to Human Genetics

J. Posey, K. Walz, 2019, Cellular and Animal Models in Human Genomics Research.

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.

Juan I. Young, Lei Cao, C. Abad, 2014, Human molecular genetics.

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

Juan I. Young, Lei Cao, A. Srivastava, 2012, PloS one.

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

M. Shago, D. Chitayat, P. Ruiz, 2012, American journal of medical genetics. Part A.

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

Alexandre Reymond, Katherina Walz, Paulina Carmona-Mora, 2008, Human molecular genetics.

Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]

J. Lupski, A. Goldman, J. Noebels, 2006, Journal of child neurology.

FOXF2 is required for cochlear development in humans and mice.

M. Tekin, M. Walter, S. Blanton, 2018, Human molecular genetics.

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome

Juan I. Young, Alexander J Abrams, Lei Cao, 2014, EMBO molecular medicine.

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

Juan I. Young, K. Walz, 2014, Rare diseases.

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

J. Lupski, M. Justice, A. Bradley, 2004, Human molecular genetics.

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

C. Skinner, R. Stevenson, Lei Cao, 2018, Biology.

(del(17)(p11.2p11.2)) Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome

J. Lupski, A. Goldman, L. Potocki, 2013 .

Unconventional Transcriptional Response to Environmental Enrichment in a Mouse Model of Rett Syndrome

Juan I. Young, K. Walz, B. Kerr, 2010, PloS one.

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

Ashutosh Kumar Singh, M. Tekin, K. Walz, 2013, Clinical genetics.

Morphological and molecular analysis of centropagids from the high Andean plateau (Copepoda: Calanoidea)

S. Kohshima, R. Nespolo, K. Walz, 2009, Hydrobiologia.

Copy number variation and susceptibility to complex traits

K. Walz, Cesar P. Canales, 2011, EMBO molecular medicine.

Tiny Models to Answer Big Questions: The Worm and the Yeast as Tools in Human Genetics Research

Katherina Walz, Patricia S. Pardo, P. Pardo, 2019, Cellular and Animal Models in Human Genomics Research.

Models to Understand Human Genomics, Final Considerations

Katherina Walz, Juan I. Young, K. Walz, 2019, Cellular and Animal Models in Human Genomics Research.

Generation and characterization of a P2rx2 V60L mouse model for DFNA41.

Juan I. Young, X. Liu, C. Abad, 2021, Human molecular genetics.

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

M. Tekin, C. Morton, X. Liu, 2016, Proceedings of the National Academy of Sciences.

Slow‐twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain

Jenice X. Cheah, T. Irving, A. Gomes, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

M. Tekin, Gaofeng Wang, S. Blanton, 2018, Human Genetics.

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

M. Tekin, G. Bademci, C. Abad, 2018, Journal of Molecular Medicine.

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

M. Tekin, S. Blanton, R. Zhai, 2019, Proceedings of the National Academy of Sciences.

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.

S. Scherer, Mark Zander, P. Neilsen, 2015, SpringerPlus.

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.

S. Scherer, Mark Zander, P. Neilsen, 2015, Developmental cell.

Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning

T. Pierson, C. Abad, K. Walz, 2024, Translational psychiatry.

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

A. Reymond, J. Lupski, K. Walz, 2008, Human molecular genetics.