N. Spinner

发表

Microduplications of 16p11.2 are Associated with Schizophrenia

Jessica R. Wolff, J. Sebat, B. Lakshmi, 2009, Nature Genetics.

KILLER/DR5 is a DNA damage–inducible p53–regulated death receptor gene

I. Krantz, N. Spinner, S. Markowitz, 1997, Nature Genetics.

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Michael A. Gonzalez, I. Krantz, N. Spinner, 2018, European Journal of Human Genetics.

Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven Approach

Michael A. Gonzalez, I. Krantz, N. Spinner, 2018, bioRxiv.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Robert C. Green, Heidi L. Rehm, Levi Garraway, 2013, Genetics in Medicine.

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

Jonathan S Berg, Ingrid A Holm, Yvonne Bombard, 2015, American journal of human genetics.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

I. Krantz, N. Spinner, B. Krock, 2019, Human mutation.

Jagged1 (JAG1): Structure, expression, and disease associations.

N. Spinner, Christopher M. Grochowski, K. Loomes, 2016, Gene.

Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

I. Krantz, N. Spinner, B. Gelb, 2010, Human mutation.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

N. Spinner, C. Skraban, E. Lalonde, 2020, Frontiers in Pediatrics.

Facial features in Alagille syndrome: specific or cholestasis facies?

I. Krantz, N. Spinner, B. Kamath, 2002, American journal of medical genetics.

Genome-wide DNA methylation analysis in cohesin mutant human cell lines

I. Krantz, N. Spinner, Zhe Zhang, 2010, Nucleic acids research.

Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation.

P. Nowell, N. Spinner, B. Emanuel, 1987, Cancer genetics and cytogenetics.

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

E. Zackai, N. Spinner, K. Woodward, 2000, American journal of human genetics.

Vascular Anomalies in Alagille Syndrome: A Significant Cause of Morbidity and Mortality

I. Krantz, N. Spinner, A. Chudley, 2004, Circulation.

Clinical utility gene card for: Alagille Syndrome (ALGS)

N. Spinner, K. Loomes, Grace Chao, 2013, European Journal of Human Genetics.

Pathologic Lower Extremity Fractures in Children With Alagille Syndrome

N. Spinner, J. Shults, M. Leonard, 2010, Journal of pediatric gastroenterology and nutrition.

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization.

I. Krantz, N. Spinner, J. Graham, 1997, American journal of medical genetics.

Syndrome of the month Alagille syndrome

I. Krantz, N. Spinner, D. Piccoli, 2022 .

Exome Sequencing in Individuals with Isolated Biliary Atresia

N. Spinner, M. Devoto, R. Rajagopalan, 2019, Scientific Reports.

Unique forms of human and mouse nuclear receptor corepressor SMRT.

N. Spinner, R. Evans, M. Downes, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Two Primary Osteosarcomas in a Patient With Rothmund-Thomson Syndrome

E. Zackai, N. Spinner, J. Silber, 2000, Clinical orthopaedics and related research.

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

E. Zackai, N. Spinner, R. Deberardinis, 2005, American journal of medical genetics. Part A.

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

I. Krantz, N. Spinner, D. Piccoli, 2020, American journal of medical genetics. Part A.

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Joseph T. Glessner, N. Spinner, J. Glessner, 2013, Gastroenterology.

Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization.

Edward R. Smith, N. Spinner, R. Ichord, 2015, The Journal of pediatrics.

Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

I. Krantz, N. Spinner, B. Kamath, 2005, Journal of pediatric gastroenterology and nutrition.

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

Richard J. Thompson, David T. Okou, N. Spinner, 2019, Hepatology.

Jagged1 mutations in Alagille syndrome

I. Krantz, N. Spinner, M. Hadchouel, 2001, Human mutation.

Jagged1 mutations in patients ascertained with isolated congenital heart defects.

E. Zackai, I. Krantz, N. Spinner, 1999, American journal of medical genetics.

Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome

I. Krantz, N. Spinner, E. Goldmuntz, 2002, Circulation.

The cardiovascular manifestations of Alagille syndrome and JAGI mutations.

N. Spinner, E. Goldmuntz, E. Moore, 2006, Methods in molecular medicine.

Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

I. Krantz, N. Spinner, E. Goldmuntz, 1999, Hepatology.

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

I. Krantz, N. Spinner, D. Piccoli, 2001, Human mutation.

Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.

E. Zackai, N. Spinner, C. Shields, 2001, American journal of medical genetics.

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage

E. Zackai, N. Spinner, T. Shaikh, 2005, American journal of medical genetics. Part A.

Peripheral Bile Duct Paucity and Cholestasis in the Liver of a Patient With Alagille Syndrome: Further Evidence Supporting a Lack of Postnatal Bile Duct Branching and Elongation

N. Spinner, T. Roskams, D. Cassiman, 2005, The American journal of surgical pathology.

CADASIL: Notch signaling defect or protein accumulation problem?

N. Spinner, 2000, The Journal of clinical investigation.

Cytogenetic Analysis

N. Spinner, M. Ferguson-Smith, 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

N. Spinner, M. Birnbaum, J. Yeh, 1998, Nature Genetics.

Cloning, human chromosomal assignment, and adipose and hepatic expression of the CL-6/INSIG1 gene.

N. Spinner, M. Lazar, R. Taub, 1997, Genomics.

Cytogenetic and Molecular Characterization of Inverted Duplicated Chromosomes 1 5 from I I Patients

E. Zackai, N. Spinner, J. Knoll, 2007 .

The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21.

N. Spinner, M. Muenke, G. Berry, 1995, Genomics.

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum

E. Zackai, N. Spinner, L. Conlin, 2010, American journal of medical genetics. Part A.

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

E. Zackai, N. Spinner, S. Saitta, 2013, American journal of medical genetics. Part A.

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance.

I. Krantz, N. Spinner, B. Kamath, 2002, American journal of medical genetics.

Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q.

E. Zackai, N. Spinner, R. Schnur, 1993, Journal of the American Academy of Dermatology.

Impaired redox and protein homeostasis as risk factors and therapeutic targets in toxin-induced biliary atresia.

N. Spinner, M. Devoto, J. Winkler, 2020, Gastroenterology.

Protein Quality Control is a Risk Factor and Therapeutic Target in Toxin-Induced Biliary Atresia

N. Spinner, M. Devoto, J. Winkler, 2019, bioRxiv.

Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

E. Zackai, N. Spinner, S. Schuffenhauer, 1993, Journal of medical genetics.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome

I. Krantz, N. Spinner, Zhe Zhang, 2014, PloS one.

Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene.

P. Nowell, N. Spinner, E. Rappaport, 1997, Blood.

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.

E. Zackai, N. Spinner, D. McDonald-McGinn, 1995, American journal of medical genetics.

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Zhe Zhang, Katsuhiko Shirahige, Nancy B. Spinner, 2009, PLoS biology.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.

N. Spinner, J. Morrissette, Fengmin Lu, 2003, American journal of human genetics.

Homozygous deletion of the death receptor DR4 gene in a nasopharyngeal cancer cell line is associated with TRAIL resistance.

N. Spinner, D. Dicker, N. Ozören, 2000, International journal of oncology.

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Colin C. Collins, Yu Deng, Leroy Hood, 1997, Nature Genetics.

Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

Richard J. Thompson, N. Spinner, P. Rosenthal, 2020, Hepatology communications.

A Challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome.

N. Spinner, P. Russo, K. Loomes, 2017, Journal of pediatric gastroenterology and nutrition.

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

N. Spinner, K. Chrzanowska, J. Gerfen, 2014, Journal of Applied Genetics.

Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features

I. Krantz, N. Spinner, B. Kamath, 2012, American journal of medical genetics. Part A.

Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the alagille syndrome hepatic phenotype

N. Spinner, J. Moran, S. Cole, 2008, Hepatology.

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies

E. Zackai, N. Spinner, C. Venditti, 2004, American journal of medical genetics. Part A.

Vascular Anomalies in Alagille Syndrome

I. Krantz, N. Spinner, A. Chudley, 2004 .

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.

I. Krantz, N. Spinner, D. Piccoli, 2002, American journal of medical genetics.

Rep/Cap gene amplification and high-yield production of AAV in an A549 cell line expressing Rep/Cap.

N. Spinner, James M. Wilson, G. Gao, 2002, Molecular therapy : the journal of the American Society of Gene Therapy.

Mosaicism and clinical genetics

N. Spinner, L. Conlin, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Paul S. Meltzer, Francis S. Collins, Abdel G. Elkahloun, 1997, Nature Genetics.

A Longitudinal Study to Identify Laboratory Predictors of Liver Disease Outcome in Alagille Syndrome

N. Spinner, Zhongxue Chen, B. Kamath, 2010, Journal of pediatric gastroenterology and nutrition.

Cytogenetics into Cytogenomics: SNP Arrays Expand the Screening Capabilities of Genetics Laboratories

N. Spinner, L. Conlin, 2008 .

Interlobular Bile Duct Loss in Pediatric Cholestatic Disease is Associated with Aberrant Cytokeratin 7 Expression by Hepatocytes

N. Spinner, D. Piccoli, P. Russo, 2007, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Craniosynostosis in Alagille syndrome.

I. Krantz, N. Spinner, C. Stolle, 2002, American journal of medical genetics.

A genomic view of mosaicism and human disease

Leslie G. Biesecker, Nancy B. Spinner, N. Spinner, 2013, Nature Reviews Genetics.

Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies

E. Zackai, N. Spinner, Minjie Luo, 2015, American journal of medical genetics. Part A.

Down syndrome congenital heart disease: A narrowed region and a candidate gene

E. Zackai, N. Spinner, G. Lyons, 2001, Genetics in Medicine.

Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13.

E. Zackai, N. Spinner, J. Knoll, 1995, American journal of medical genetics.

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

E. Zackai, N. Spinner, R. Spritz, 1994, Human molecular genetics.

“Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD

N. Spinner, B. Bernhardt, E. Giarelli, 2017, Journal of Autism and Developmental Disorders.

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

N. Spinner, B. Bernhardt, E. Giarelli, 2015, Journal of Autism and Developmental Disorders.

Ring chromosome 20.

N. Spinner, A. Vignoli, L. Conlin, 2012, European journal of medical genetics.

46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization.

E. Zackai, N. Spinner, J. Biegel, 1993, American journal of medical genetics.

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2014, BMC Bioinformatics.

Pediatric Mortality in Males Versus Females in the United States, 1999–2008

N. Spinner, C. Feudtner, J. Faerber, 2013, Pediatrics.

Renal involvement and the role of Notch signalling in Alagille syndrome

N. Spinner, N. Rosenblum, B. Kamath, 2013, Nature Reviews Nephrology.

Recurrent neuroleptic malignant syndrome associated with inv dup(15) and mental retardation

N. Spinner, A. L. Lazarus, Kenneth Moore, 1991, Clinical genetics.

A six-attribute classification of genetic mosaicism

N. Spinner, L. Biesecker, L. Pérez-Jurado, 2020, Genetics in Medicine.

A Six-attribute Classification of Genetic Mosaicism

N. Spinner, L. Biesecker, L. Pérez-Jurado, 2020, Genetics in Medicine.

Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes

U. Surti, N. Spinner, W. Parks, 2018, American journal of medical genetics. Part A.

Novel microdeletion syndromes

I. Krantz, N. Spinner, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

E. Zackai, N. Spinner, K. Hirschhorn, 1997, Human molecular genetics.

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.

P. Kaplan, J. Ganesh, N. Spinner, 2008, Molecular genetics and metabolism.

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

E. Zackai, N. Spinner, R. Shprintzen, 1992, American journal of medical genetics.

The role of cytologic NOR variants in the etiology of trisomy 21.

E. Zackai, N. Spinner, B. Emanuel, 1989, American journal of human genetics.

Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease

N. Spinner, L. Conlin, B. Wilkins, 2020, Human mutation.

Alagille Syndrome: Genetics and Functional Models

N. Spinner, Melissa A Gilbert, Melissa A. Gilbert, 2017, Current Pathobiology Reports.

Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome

N. Spinner, J. Beyene, P. Rosenthal, 2016, Liver international : official journal of the International Association for the Study of the Liver.

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors

N. Spinner, Tomohiko Nakamura, Y. Ogiso, 2016, American journal of medical genetics. Part A.

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

N. Spinner, K. Chrzanowska, J. Gerfen, 2014, Journal of Applied Genetics.

Deletions and Other Structural Abnormalities of the Autosomes

N. Spinner, B. Emanuel, L. Conlin, 2013 .

Notch signaling in human development and disease.

N. Spinner, A. Penton, Laura D. Leonard, 2012, Seminars in cell & developmental biology.

Renal anomalies in Alagille syndrome: A disease‐defining feature

I. Krantz, N. Spinner, B. Kamath, 2012, American journal of medical genetics. Part A.

NOTCH2 mutations in Alagille syndrome

I. Krantz, N. Spinner, P. Lapunzina, 2011, Journal of Medical Genetics.

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

Joseph T. Glessner, I. Krantz, N. Spinner, 2009, Human mutation.

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

I. Krantz, N. Spinner, Ryan McDaniell, 2006, American journal of human genetics.

Genetics of Alagille syndrome

N. Spinner, 2005 .

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

N. Spinner, R. Colliton, J. Morrissette, 2001, Human molecular genetics.

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

N. Spinner, G. Anderson, J. MacMillan, 2000, Human mutation.

Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

N. Spinner, P. Fortina, R. Taub, 1994, American journal of human genetics.

Fine‐mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals

I. Krantz, N. Spinner, H. Riethman, 2008, American journal of medical genetics. Part A.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Ethan M. Goldberg, N. Spinner, I. Helbig, 2019, JAMA network open.

Duplication 9q34-->qter identified by chromosome painting.

N. Spinner, J. Lucas, M. Poggensee, 1993, American journal of medical genetics.

Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.

N. Spinner, B. Emanuel, F. Ramos, 1992, American journal of medical genetics.

Human colon carcinoma cell lines from the primary tumor and a lymph node metastasis

N. Spinner, K. Danielson, I. Damjanov, 2007, In Vitro Cellular & Developmental Biology - Animal.

Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints.

P. Nowell, N. Spinner, J. Hoxie, 1999, Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology.

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

E. Zackai, N. Spinner, J. Knoll, 1994, American journal of human genetics.

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

I. Scheffer, N. Spinner, H. Hakonarson, 2010, Journal of Medical Genetics.

Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20

I. Krantz, N. Spinner, H. Riethman, 2010, American journal of medical genetics. Part A.

Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.

S. Schwartz, N. Spinner, J. Crolla, 2000, American journal of human genetics.

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

N. Spinner, M. Devoto, Michael M. Wang, 2016, Cellular and molecular gastroenterology and hepatology.

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

N. Spinner, R. Green, H. Rehm, 2018, Prenatal diagnosis.

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.

“Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD

N. Spinner, B. Bernhardt, E. Giarelli, 2017, Journal of Autism and Developmental Disorders.

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

N. Spinner, B. Bernhardt, E. Giarelli, 2015, Journal of autism and developmental disorders.

A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice

N. Spinner, B. Bernhardt, R. Pyeritz, 2014, Journal of Genetic Counseling.

Chapter 22 – Cytogenetic Analysis

N. Spinner, 2013 .

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families: Physicians' perspectives on microarray testing

N. Spinner, B. Bernhardt, R. Pyeritz, 2012 .

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Marian Reiff, Reed E. Pyeritz, Barbara A. Bernhardt, 2012, Genetics in Medicine.

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.

Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

I. Krantz, N. Spinner, M. Devoto, 2015, Human mutation.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2015, Human Genomics.

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2018, Genetics in Medicine.

Paternal uniparental isodisomy for human chromosome 20 and absence of external ears

N. Spinner, D. McDonald-McGinn, E. Rand, 1994 .

Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low‐Level Uniparental Disomy

N. Spinner, J. Biegel, V. Livolsi, 2013, American journal of medical genetics. Part A.

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

E. Zackai, I. Krantz, N. Spinner, 2015, Genetics in 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.

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

N. Spinner, L. Gaunt, Yiping Shen, 2010, European journal of medical genetics.

A de novo 8.8‐Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

E. Zackai, N. Spinner, C. Haldeman-Englert, 2010, American journal of medical genetics. Part A.

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

N. Spinner, L. Conlin, M. Hummel, 2013, Case reports in genetics.

Placental mosaicism in a case of 46,XY, −22, +t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis

N. Spinner, L. Jackson, Z. Gibas, 1992, Prenatal diagnosis.

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

J. Rosenfeld, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

PECONPI: A novel software for uncovering pathogenic copy number variations in non‐syndromic sensorineural hearing loss and other genetically heterogeneous disorders

Joseph T. Glessner, I. Krantz, N. Spinner, 2013, American journal of medical genetics. Part A.

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

E. Zackai, P. Kaplan, N. Spinner, 2010, American journal of medical genetics. Part A.

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

N. Spinner, B. Krock, A. A. Abou Tayoun, 2016, Expert review of molecular diagnostics.

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

I. Krantz, N. Spinner, H. Hakonarson, 2010, American journal of medical genetics. Part A.

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

N. Spinner, K. Ormond, J. Belmont, 2015, American Journal of Human Genetics.

8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities

N. Spinner, R. Daber, Grace Chao, 2011, American journal of medical genetics. Part A.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

Joseph T. Glessner, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2018, Genetics in Medicine.

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.

E. Zackai, N. Spinner, P. Fortina, 2000, American journal of medical genetics.

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 Centralized Approach for Practicing Genomic Medicine

I. Krantz, N. Spinner, B. Devkota, 2020, Pediatrics.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Bo Zhang, 2018, Genetics in Medicine.

Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher–Schinzel (3C) syndrome

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

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Peter N. Robinson, Jeffrey W. Pennington, Aaron J. Masino, 2014, BMC Bioinformatics.

Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q

E. Zackai, N. Spinner, R. Schnur, 1996, Human Genetics.

Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

E. Zackai, N. Spinner, J. Sladky, 1996, American journal of medical genetics.

A chromosomal breakage syndrome with profound immunodeficiency.

W. W. Nichols, P. Nowell, N. Spinner, 1986, Blood.

Mechanisms of ring chromosome formation, ring instability and clinical consequences

N. Spinner, C. Kim, L. Conlin, 2011, BMC Medical Genetics.

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Michael A. Gonzalez, I. Krantz, N. Spinner, 2018, bioRxiv.

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

Marni J. Falk, N. Spinner, T. Shaikh, 2011, Annals of neurology.

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion

N. Spinner, C. Kim, L. Conlin, 2014, American journal of medical genetics. Part A.

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

Nancy B. Spinner, N. Spinner, J. Golden, 1997, Nature Genetics.

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

N. Spinner, H. Hakonarson, M. Devoto, 2014, Human Genetics.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

The Human Bone Morphogenetic Protein 4 (BMP-4) Gene: Molecular Structure and Transcriptional Regulation

N. Spinner, J. Wozney, M. Deardorff, 1998, Calcified Tissue International.

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

I. Krantz, N. Spinner, M. Devoto, 2005, American journal of medical genetics. Part A.

Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene.

N. Spinner, M. Bucan, N. Copeland, 1997, Genome research.

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.

Marni J. Falk, N. Spinner, R. Ganetzky, 2021, Molecular genetics and metabolism.

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

N. Spinner, L. Conlin, Sohela Shah, 2013, PloS one.

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

E. Zackai, N. Spinner, R. Schnur, 1994, Human Genetics.

Immune dysregulation in Alagille syndrome: A new feature of the evolving phenotype.

N. Spinner, C. Kemper, G. Le Friec, 2015, Clinics and research in hepatology and gastroenterology.

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

E. Zackai, N. Spinner, L. Medne, 2003, American journal of medical genetics. Part A.

Panhandle Polymerase Chain Reaction Amplifies MLL Genomic Translocation Breakpoint Involving Unknown Partner Gene

P. Nowell, N. Spinner, E. Rappaport, 1997 .

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.

N. Spinner, B. Emanuel, D. Driscoll, 1993, American journal of diseases of children.

Cytogenetic highlights and transitions

N. Spinner, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders

I. Krantz, N. Spinner, B. Devkota, 2018, American journal of hematology.

Holoprosencephaly in a newborn girl with 46,XX,i(18q).

N. Spinner, P. Mamunes, D. Eunpu, 1991, American journal of medical genetics.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

E. Zackai, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

I. Krantz, N. Spinner, Jeffrey Pennington, 2017, Genetics in Medicine.

Ring chromosome 20 epilepsy syndrome: An overview

N. Spinner, L. Conlin, S. Hosain, 2012, Journal of Pediatric Epilepsy.

Cytogenomic and phenotypic analysis in low‐level monosomy 7 mosaicism with non‐supernumerary ring chromosome 7

N. Spinner, L. Conlin, R. Daber, 2014, American journal of medical genetics. Part A.

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

I. Krantz, N. Spinner, L. Conlin, 2020, Genetics in Medicine.

Cytogenetic and molecular evaluation and 20‐year follow‐up of a patient with ring chromosome 14

N. Spinner, L. Conlin, D. Brunoni, 2010, American journal of medical genetics. Part A.

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

N. Spinner, H. Hakonarson, M. Devoto, 2018, PLoS genetics.

Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome

N. Spinner, B. Kamath, A. Flake, 2010, Journal of pediatric gastroenterology and nutrition.

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

I. Krantz, N. Spinner, M. Devoto, 2015, American journal of medical genetics. Part A.

Facial features in Alagille syndrome

I. Krantz, N. Spinner, B. Kamath, 2004 .

Significant liver disease in a patient with Y116H mutation in the MVK gene

J. Ganesh, N. Spinner, L. Conlin, 2011, American journal of medical genetics. Part A.

Infantile spasms associated with proximal duplication of chromosome 15q.

E. Zackai, N. Spinner, P. Chance, 1996, Pediatric neurology.

An 18‐year follow‐up report on an infant with a duplication of 9q34

N. Spinner, J. Hellings, M. Butler, 2010, American journal of medical genetics. Part A.

De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)

E. Zackai, N. Spinner, D. McDonald-McGinn, 1993, Clinical genetics.

Complete androgen insensitivity syndrome due to X chromosome inversion: A clinical report

N. Spinner, Weizhen Xu, C. Robert, 2003, American journal of medical genetics. Part A.

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array

E. Zackai, N. Spinner, L. Conlin, 2013, American journal of medical genetics. Part A.

Mosaic trisomy 17: Variable clinical and cytogenetic presentation

E. Zackai, N. Spinner, H. Hakonarson, 2011, American journal of medical genetics. Part A.

The Gene Encoding Human Nuclear Protein Tyrosine Phosphatase, PRL-1

N. Spinner, R. Taub, A. Genin, 1998, The Journal of Biological Chemistry.

Cloning of a cDNA encoding the rat high molecular weight neurofilament peptide (NF-H): developmental and tissue expression in the rat, and mapping of its human homologue to chromosomes 1 and 22.

N. Spinner, I. Lieberburg, J. Breitner, 1989, Proceedings of the National Academy of Sciences of the United States of America.

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2018, Genetics in Medicine.

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2022, Human mutation.

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

J. Gécz, E. Zackai, N. Spinner, 1999, Human Genetics.

A chromosomal breakage syndrome with profound immunodeficiency

W. W. Nichols, P. Nowell, N. Spinner, 1986 .

Compound heterozygous mutations in NEK8 in siblings with end‐stage renal disease with hepatic and cardiac anomalies

N. Spinner, K. Coleman, M. Devoto, 2016, American journal of medical genetics. Part A.

26 NOTCH2 MUTATIONS IN ALAGILLE SYNDROME

I. Krantz, N. Spinner, B. Kamath, 2011 .

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome

Richard J. Thompson, N. Spinner, R. Gibbs, 2019 .

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring

E. Zackai, N. Spinner, S. Saitta, 2008, American journal of medical genetics. Part A.

Clinical and molecular genetics of Alagille syndrome.

I. Krantz, N. Spinner, D. Piccoli, 1999, Current opinion in pediatrics.

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Richard J. Thompson, N. Spinner, J. Feinstein, 2022, Hepatology.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.

N. Spinner, S. Gottlieb, D. Piccoli, 1999, Human molecular genetics.

Expanded non-invasive prenatal diagnostics

I. Krantz, N. Spinner, 2019, Nature Medicine.

Alagille syndrome.

I. Krantz, N. Spinner, B. Kamath, 1997, Journal of medical genetics.

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

N. Spinner, H. Hakonarson, M. Devoto, 2013, Human Genetics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Joseph S. Salama, W. Chung, I. Krantz, 2016, American journal of human genetics.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, K. Goddard, L. Hindorff, 2018, Genetics in Medicine.

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

N. Spinner, R. Pyeritz, S. Mulchandani, 2013, Clinical Genetics.

Consequences of JAG1 mutations

I. Krantz, N. Spinner, B. Kamath, 2003, Journal of medical genetics.

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

I. Krantz, N. Spinner, D. Piccoli, 1998, American journal of human genetics.

Alagille Syndrome: Cytogenetic and Molecular Studies

N. Spinner, P. Fortina, R. Taub, 2007 .

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

I. Krantz, N. Spinner, H. Hakonarson, 2010, American journal of medical genetics. Part A.

Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

I. Krantz, N. Spinner, B. Gelb, 2010, Human mutation.

Alagille syndrome and the notch signaling pathway: new insights into human development.

N. Spinner, N. Spinner, 1999, Gastroenterology.

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

E. Zackai, P. Kaplan, N. Spinner, 2010, American journal of medical genetics. Part A.

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

N. Spinner, M. Reiff, Reed E. Pyeritz, 2013, Clinical genetics.

ERRATUM: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

N. Spinner, R. Green, L. Garraway, 2014, Genetics in Medicine.

Ring chromosome 20.

N. Spinner, L. Conlin, L. Brown, 2012, European Journal of Medical Genetics.

Human Mutation

I. Krantz, N. Spinner, B. Krock, 2019 .

A Longitudinal Study to Identify Laboratory Predictors of Liver Disease Outcome in Alagille Syndrome

N. Spinner, Zhongxue Chen, B. Kamath, 2010, Journal of pediatric gastroenterology and nutrition.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

I. Krantz, N. Spinner, J. Glessner, 2012, American journal of medical genetics. Part A.

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

N. Spinner, J. Fryns, U. Froster-Iskenius, 1991, American journal of medical genetics.