J.G. Seidman, Christine Seidman
Title and authors | Publication | Year |
---|---|---|
Dose-dependent sensitivity of human 3D chromatin to a heart disease-linked transcription factor
Grant ZL, Kuang S, Zhang S, Horrillo AJ, Rao KS, Kameswaran V, Joubran C, Lau PK, Dong K, Yang B, Bartosik WM, Zemke NR, Ren B, Kathiriya IS, Pollard KS, Bruneau BG |
bioRxiv | 2025 |
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft
Jeong R, Bulyk ML |
medRxiv | 2025 |
GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis
Bisson JA, Gordillo M, Kumar R, de Silva N, Yang E, Banks KM, Shi ZD, Lee K, Yang D, Chung WK, Huangfu D, Evans T |
eLife | 2025 |
LMX1B missense-perturbation of regulatory element footprints disrupts serotonergic forebrain axon arborization
Eastman B, Tabuchi N, Zhang XL, Spencer WC, Deneris ES |
Proceedings of the National Academy of Sciences of the United States of America | 2025 |
Activation of the YAP/KLF5 transcriptional cascade in renal tubular cells aggravates kidney injury
Liu Y, Wang Y, Xu C, Zhang Y, Wang Y, Qin J, Lan HY, Wang L, Huang Y, Mak KK, Zheng Z, Xia Y |
Molecular Therapy | 2024 |
Inverse and Proportional Trans Modulation of Gene Expression in Human Aneuploidies
Zhang S, Wang R, Zhang L, Birchler JA, Sun L |
Genes & development | 2024 |
GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis.
Bisson JA, Gordillo M, Kumar R, de Silva N, Yang E, Banks KM, Shi ZD, Lee K, Yang D, Chung WK, Huangfu D, Evans T |
bioRxiv : the preprint server for biology | 2024 |
Prevalence of and gene regulatory constraints on transcriptional adaptation in single cells.
Mellis IA, Melzer ME, Bodkin N, Goyal Y |
Genome biology | 2024 |
Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases
Badonyi M, Marsh JA |
PLOS ONE | 2024 |
CRISPR tiling deletion screens reveal functional enhancers of neuropsychiatric risk genes and allelic compensation effects (ACE) on transcription.
Ren X, Zheng L, Maliskova L, Tam TW, Sun Y, Liu H, Lee J, Takagi MA, Li B, Ren B, Wang W, Shen Y |
bioRxiv : the preprint server for biology | 2024 |
The limb dorsoventral axis: Lmx1b's role in development, pathology, evolution, and regeneration
Castilla\u2010Ibeas A, Zdral S, Oberg KC, Ros MA |
Developmental Dynamics | 2024 |
LMX1B missense-perturbation of regulatory element footprints disrupts serotonergic forebrain axon arborization
Eastman B, Tabuchi N, Zhang X, Spencer WC, Deneris ES |
bioRxiv | 2024 |
Detailed phenotyping of Tbr1–2A-CreER knock-in mice demonstrates significant impacts on TBR1 protein levels and axon development
Co M, O\u2019Brien GK, Wright KM, O\u2019Roak BJ |
Autism research : official journal of the International Society for Autism Research | 2024 |
A Novel Loss-of-function Mutation in MYBPC3 Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.
Peng Y, Xu J, Wang Y, Zhao J, Zhang L, Chen Z, Jiang Y, Banerjee S, Zhang Z, Bai M |
2023 | |
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.
Naqvi S, Kim S, Hoskens H, Matthews HS, Spritz RA, Klein OD, Hallgrímsson B, Swigut T, Claes P, Pritchard JK, Wysocka J |
Nature Genetics | 2023 |
Buffering of genetic dominance by allele-specific protein complex assembly
Badonyi M, Marsh JA |
Science Advances | 2023 |
A Critical Review of Zebrafish Neurological Disease Models−1. The Premise: Neuroanatomical, Cellular and Genetic Homology and Experimental Tractability
Burgess HA, Burton EA |
2023 | |
Prevalence of and gene regulatory constraints on transcriptional adaptation in single cells
Mellis IA, Bodkin N, Goyal Y |
2023 | |
An unsupervised deep learning framework for predicting human essential genes from population and functional genomic data.
LaPolice TM, Huang YF |
BMC bioinformatics | 2023 |
Deep multiple-instance learning accurately predicts gene haploinsufficiency and deletion pathogenicity
Liu Z, Huang YF |
2023 | |
PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation
Aweidah H, Xi Z, Sahel JA, Byrne LC |
Vision research | 2023 |
Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination
R Zug |
Biology Open | 2022 |
Consequences of Chromosome Loss: Why Do Cells Need Each Chromosome Twice?
Chunduri NK, Barthel K, Storchova Z |
Cells | 2022 |
Dosage-sensitive miRNAs trigger modulation of gene expression during genomic imbalance in maize.
Shi X, Yang H, Chen C, Hou J, Ji T, Cheng J, Birchler JA |
Nature Communications | 2022 |
The spectrum of GATA2 deficiency syndrome
Calvo KR, Hickstein DD |
Blood | 2022 |
Loss of proximal tubular transcription factor Krüppel-like factor 15 exacerbates kidney injury through loss of fatty acid oxidation
SE Piret, AA Attallah, X Gu, Y Guo, NA Gujarati, J Henein, A Zollman, T Hato, A Maayan, MP Revelo, KG Dickman, CH Chen, CT Shun, TA Rosenquist, JC He, SK Mallipattu |
Kidney International | 2021 |
Genomic imbalance determines positive and negative modulation of gene expression in diploid maize
X Shi, H Yang, C Chen, J Hou, KM Hanson, PS Albert, T Ji, J Cheng, JA Birchler |
The Plant cell | 2021 |
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
R Gupta, KJ Karczewski, D Howrigan, BM Neale, VK Mootha |
eLife | 2021 |
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders
L Bermúdez-Guzmán, RA Veitia |
Human Genetics | 2021 |
Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression
LD Carbonare, F Antoniazzi, A Gandini, S Orsi, J Bertacco, VL Vigni, A Minoia, F Griggio, M Perduca, M Mottes, MT Valenti |
International journal of molecular sciences | 2021 |
Predominantly inverse modulation of gene expression in genomically unbalanced disomic haploid maize
H Yang, X Shi, C Chen, J Hou, T Ji, J Cheng, JA Birchler |
The Plant cell | 2021 |
Loss of the transcription factor MAFB limits β-cell derivation from human PSCs
R Russell, PP Carnese, TG Hennings, EM Walker, HA Russ, JS Liu, S Giacometti, R Stein, M Hebrok |
Nature Communications | 2020 |
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance
L Boukas, HT Bjornsson, KD Hansen |
The American Journal of Human Genetics | 2020 |
Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?
EH Bresnick, MM Jung, KR Katsumura |
Blood Advances | 2020 |
An empirical bayesian approach for testing gene expression fold change and its application in detecting global dosage effects
Z Guo, Y Cui, X Shi, JA Birchler, I Albizua, SL Sherman, ZS Qin, T Ji |
2020 | |
Trait-associated noncoding variant regions affect TBX3 regulation and cardiac conduction
JH van Weerd, RA Mohan, K van Duijvenboden, IB Hooijkaas, V Wakker, BJ Boukens, P Barnett, VM Christoffels |
eLife | 2020 |
Does Developmental Variability in the Number of Midbrain Dopamine Neurons Affect Individual Risk for Sporadic Parkinson’s Disease?
CU von Linstow, M DeLano-Taylor, JH Kordower, P Brundin |
Journal of Parkinson's disease | 2020 |
PUMILIO1 Links Epilepsy to Spinocerebellar Ataxia
KA Lyman, DM Chetkovich |
Epilepsy Currents | 2019 |
Coexpression patterns define epigenetic regulators associated with neurological dysfunction
L Boukas, JM Havrilla, PF Hickey, AR Quinlan, HT Bjornsson, KD Hansen |
Genome research | 2019 |
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation
S Hoffmann, C Paone, SA Sumer, S Diebold, B Weiss, R Roeth, S Clauss, I Klier, S Kääb, A Schulz, PS Wild, A Ghrib, T Zeller, RB Schnabel, S Just, GA Rappold |
Frontiers in Genetics | 2019 |
Sexual Dimorphism in the Age of Genomics: How, When, Where
DF Deegan, N Engel |
Frontiers in Cell and Developmental Biology | 2019 |
Characterization of Human Dosage-Sensitive Transcription Factor Genes
Z Ni, XY Zhou, S Aslam, DK Niu |
Frontiers in Genetics | 2019 |
Coupling of DNA Replication and Negative Feedback Controls Gene Expression for Cell-Fate Decisions
Q Shao, MG Cortes, JT Trinh, J Guan, G Balázsi, L Zeng |
iScience | 2018 |
Epigenetic Control of Endocrine Pancreas Differentiation in vitro: Current Knowledge and Future Perspectives
V Astro, A Adamo |
Frontiers in Cell and Developmental Biology | 2018 |
Important cardiac transcription factor genes are accompanied by bidirectional long non-coding RNAs
Y Hori, Y Tanimoto, S Takahashi, T Furukawa, K Koshiba-Takeuchi, JK Takeuchi |
BMC Genomics | 2018 |
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
H Qi, L Yu, X Zhou, J Wynn, H Zhao, Y Guo, N Zhu, A Kitaygorodsky, R Hernan, G Aspelund, FY Lim, T Crombleholme, R Cusick, K Azarow, ME Danko, D Chung, BW Warner, GB Mychaliska, D Potoka, AJ Wagner, M ElFiky, JM Wilson, D Nickerson, M Bamshad, FA High, M Longoni, PK Donahoe, WK Chung, Y Shen, S Mundlos |
PLoS genetics | 2018 |
Global impacts of chromosomal imbalance on gene expression in Arabidopsis and other taxa
J Hou, X Shi, C Chen, S Islam, AF Johnson, T Kanno, B Huettel, MR Yen, FM Hsu, T Ji, PY Chen, M Matzke, AJ Matzke, J Cheng, JA Birchler |
Proceedings of the National Academy of Sciences | 2018 |
MLPA analysis in a cohort of patients with autism
S Peixoto, JB Melo, J Ferrão, LM Pires, N Lavoura, M Pinto, G Oliveira, IM Carreira |
Molecular cytogenetics | 2017 |
Differential Sensitivity of Target Genes to Translational Repression by miR-17~92
HY Jin, H Oda, P Chen, C Yang, X Zhou, SG Kang, E Valentine, J Kefauver, L Liao, Y Zhang, A Gonzalez-Martin, J Shepherd, GJ Morgan, TS Mondala, SR Head, PH Kim, N Xiao, G Fu, WH Liu, J Han, JR Williamson, C Xiao, L He |
PLoS genetics | 2017 |
Genome Editing in hPSCs Reveals GATA6 Haploinsufficiency and a Genetic Interaction with GATA4 in Human Pancreatic Development
ZD Shi, K Lee, D Yang, S Amin, N Verma, QV Li, Z Zhu, CL Soh, R Kumar, T Evans, S Chen, D Huangfu |
Cell Stem Cell | 2017 |
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
CA Cassa, D Weghorn, DJ Balick, DM Jordan, D Nusinow, KE Samocha, A O'Donnell-Luria, DG MacArthur, MJ Daly, DR Beier, SR Sunyaev |
Nature Genetics | 2017 |
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
B Afzali, J Grönholm, J Vandrovcova, C O'Brien, HW Sun, I Vanderleyden, FP Davis, A Khoder, Y Zhang, AN Hegazy, AV Villarino, IW Palmer, J Kaufman, NR Watts, M Kazemian, O Kamenyeva, J Keith, A Sayed, D Kasperaviciute, M Mueller, JD Hughes, IJ Fuss, MF Sadiyah, K Montgomery-Recht, J McElwee, NP Restifo, W Strober, MA Linterman, PT Wingfield, HH Uhlig, R Roychoudhuri, TJ Aitman, P Kelleher, MJ Lenardo, JJ O'Shea, N Cooper, AD Laurence |
Nature Immunology | 2017 |
Decoding disease-causing mechanisms of missense mutations from supramolecular structures
A Hijikata, T Tsuji, M Shionyu, T Shirai |
Scientific Reports | 2017 |
Dosage-Dependent Expression Variation Suppressed on the Drosophila Male X Chromosome
H Lee, DY Cho, D Wojtowicz, ST Harbison, S Russell, B Oliver, TM Przytycka |
G3: Genes|Genomes|Genetics | 2017 |
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation
S Hoffmann, S Clauss, IM Berger, B Weiß, A Montalbano, R Röth, M Bucher, I Klier, R Wakili, H Seitz, E Schulze-Bahr, HA Katus, F Flachsbart, A Nebel, SP Guenther, E Bagaev, W Rottbauer, S Kääb, S Just, GA Rappold |
Basic Research in Cardiology | 2016 |
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans
VS Lee, CM Halabi, EP Hoffman, N Carmichael, I Leshchiner, CG Lian, AJ Bierhals, D Vuzman, RP Mecham, NY Frank, NO Stitziel |
Proceedings of the National Academy of Sciences | 2016 |
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens
B Wang, T Ji, X Zhou, J Wang, X Wang, J Wang, D Zhu, X Zhang, PC Sham, X Zhang, X Ma, Y Jiang |
Scientific Reports | 2016 |
GATA2 deficiency:
AP Hsu, LJ McReynolds, SM Holland |
Current Opinion in Allergy and Clinical Immunology | 2015 |
Haploinsufficiency predictions without study bias
J Steinberg, F Honti, S Meader, C Webber |
Nucleic Acids Research | 2015 |
Dominance from the perspective of gene–gene and gene–chemical interactions
A Gladki, P Zielenkiewicz, S Kaczanowski |
Genetica | 2015 |
A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature
L Veneziano, MH Parkinson, E Mantuano, M Frontali, KP Bhatia, P Giunti |
The Cerebellum | 2014 |
Facts and artifacts in studies of gene expression in aneuploids and sex chromosomes
JA Birchler |
Chromosoma | 2014 |
Linking genetics to structural biology: complex heterozygosity screening with actin alanine scan alleles identifies functionally related surfaces on yeast actin
S DiPrima, B Haarer, S Viggiano, C Pons, CL Myers, DC Amberg |
G3: Genes|Genomes|Genetics | 2014 |
Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold
YS Chen, JD Racca, NB Phillips, MA Weiss |
Proceedings of the National Academy of Sciences | 2013 |
The generation of chromosomal deletions to provide extensive coverage and subdivision of the Drosophila melanogaster genome
RK Cook, SJ Christensen, JA Deal, RA Coburn, ME Deal, JM Gresens, TC Kaufman, KR Cook |
Genome biology | 2012 |
The genetic control of growth rate: a systems biology study in yeast
P Pir, A Gutteridge, J Wu, B Rash, DB Kell, N Zhang, SG Oliver |
BMC Systems Biology | 2012 |
Dosage compensation of the sex chromosomes
CM Disteche |
Annual Review of Genetics | 2012 |
Gene balance hypothesis: connecting issues of dosage sensitivity across biological disciplines
JA Birchler, RA Veitia |
Proceedings of the National Academy of Sciences | 2012 |
Probing the polygenic basis of cardiomyopathies in Drosophila
L Qian, R Bodmer |
Journal of Cellular and Molecular Medicine | 2012 |
The hunt for genetic risk among Mysore, south India patent ductus arteriosus patients
DM Iovannisci |
The Indian journal of medical research | 2011 |
The role of Tet3 DNA dioxygenase in epigenetic reprogramming by oocytes
TP Gu, F Guo, H Yang, HP Wu, GF Xu, W Liu, ZG Xie, L Shi, X He, S Jin, K Iqbal, YG Shi, Z Deng, PE Szabó, GP Pfeifer, J Li, GL Xu |
Nature | 2011 |
The cell adhesion gene PVRL3 is associated with congenital ocular defects
SA Lachke, AW Higgins, M Inagaki, I Saadi, Q Xi, M Long, BJ Quade, ME Talkowski, JF Gusella, A Fujimoto, ML Robinson, Y Yang, QT Duong, I Shapira, B Motro, J Miyoshi, Y Takai, CC Morton, RL Maas |
Human Genetics | 2011 |
Novel Interactions between Actin and the Proteasome Revealed by Complex Haploinsufficiency
B Haarer, D Aggeli, S Viggiano, DJ Burke, DC Amberg, M Snyder |
PLoS genetics | 2011 |
Pulmonary Pathology in Thyroid Transcription Factor-1 Deficiency Syndrome
C Galambos, H Levy, CL Cannon, SO Vargas, LM Reid, R Cleveland, R Lindeman, DE deMello, SE Wert, JA Whitsett, AR Perez-Atayde, H Kozakewich |
American journal of respiratory and critical care medicine | 2010 |
The role of noise and positive feedback in the onset of autosomal dominant diseases
WJ Bosl, R Li |
BMC Systems Biology | 2010 |
MicroRNA Functions in Stress Responses
AK Leung, PA Sharp |
Molecular Cell | 2010 |
A novel strategy for therapeutic intervention for the genetic disease: Preventing proteolytic cleavage using small chemical compound
M Yamada, S Hirotsune, A Wynshaw-Boris |
The International Journal of Biochemistry & Cell Biology | 2010 |
Characterising and Predicting Haploinsufficiency in the Human Genome
N Huang, I Lee, EM Marcotte, ME Hurles, MH Schierup |
PLoS genetics | 2010 |
A general lack of compensation for gene dosage in yeast.
Springer M, Weissman JS, Kirschner MW |
Molecular Systems Biology | 2010 |
Expanding the range of ZNF804A variants conferring risk of psychosis
Steinberg S, Mors O, Børglum A, Gustafsson O, Werge T, Mortensen P, Andreassen O, Sigurdsson E, Thorgeirsson T, Böttcher Y, Olason P, Ophoff R, Cichon S, Gudjonsdottir I, Pietiläinen O, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Athanasiu L, Suvisaari J, Lonnqvist J, Paunio T, Hartmann A, Jürgens G, Nordentoft M, Hougaard D, Norgaard-Pedersen B, Breuer R, Möller HJ, Giegling I, Glenthøj B, Rasmussen H, Mattheisen M, Bitter I, Réthelyi J, Sigmundsson T, Fossdal R, Thorsteinsdottir U, Ruggeri M, Tosato S, Strengman E, Kiemeney L, Melle I, Djurovic S, Abramova L, Kaleda V, Walshe M, Bramon E, Vassos E, Li T, Fraser G, Walker N, Toulopoulou T, Yoon J, Freimer N, Cantor R, Murray R, Kong A, Golimbet V, Jönsson E, Terenius L, Agartz I, Petursson H, Nöthen M, Rietschel M, Peltonen L, Rujescu D, Collier D, Stefansson H, St Clair D, Stefansson K |
Molecular Psychiatry | 2010 |
A cis-proline in alpha-hemoglobin stabilizing protein directs the structural reorganization of alpha-hemoglobin
DA Gell, L Feng, S Zhou, PD Jeffrey, K Bendak, A Gow, MJ Weiss, Y Shi, JP Mackay |
The Journal of biological chemistry | 2009 |
ALDH1A2 (RALDH2) genetic variation in human congenital heart disease
M Pavan, VF Ruiz, FA Silva, TJ Sobreira, RM Cravo, M Vasconcelos, LP Marques, SM Mesquita, JE Krieger, AA Lopes, PS Oliveira, AC Pereira, J Xavier-Neto |
BMC Medical Genetics | 2009 |
Edgetic perturbation models of human inherited disorders
Q Zhong, N Simonis, QR Li, B Charloteaux, F Heuze, N Klitgord, S Tam, H Yu, K Venkatesan, D Mou, V Swearingen, MA Yildirim, H Yan, A Dricot, D Szeto, C Lin, T Hao, C Fan, S Milstein, D Dupuy, R Brasseur, DE Hill, ME Cusick, M Vidal |
Molecular Systems Biology | 2009 |
Expression variation: its relevance to emergence of chronic disease and to therapy
AL Mayburd |
PloS one | 2009 |
The gene balance hypothesis: implications for gene regulation, quantitative traits and evolution: Research review
JA Birchler, RA Veitia |
New Phytologist | 2009 |
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice
B Fogelgren, MC Kuroyama, B McBratney‐Owen, AA Spence, LE Malahn, MK Anawati, C Cabatbat, VB Alarcon, Y Marikawa, S Lozanoff |
Developmental Dynamics | 2008 |
From ENU mutagenesis to population genetics
NA Mitchison, B Clarke |
Mammalian Genome | 2008 |
Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure
H Zhao, ZJ Chen, Y Qin, Y Shi, S Wang, Y Choi, JL Simpson, A Rajkovic |
The American Journal of Human Genetics | 2008 |
Gene Regulation in Primates Evolves under Tissue-Specific Selection Pressures
R Blekhman, A Oshlack, AE Chabot, GK Smyth, Y Gilad, G McVean |
PLoS genetics | 2008 |
A Combination of Genomic Approaches Reveals the Role of FOXO1a in Regulating an Oxidative Stress Response Pathway
P Candia, R Blekhman, AE Chabot, A Oshlack, Y Gilad, JO Borevitz |
PloS one | 2008 |
Reversal of Physiological Deficits Caused by Diminished Levels of Peptidylglycine α-Amidating Monooxygenase by Dietary Copper
D Bousquet-Moore, XM Ma, EA Nillni, TA Czyzyk, JE Pintar, BA Eipper, RE Mains |
Endocrinology | 2008 |
Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies
RW Pfaeffle, CS Hunter, JJ Savage, M Duran-Prado, RD Mullen, ZP Neeb, U Eiholzer, V Hesse, NG Haddad, HM Stobbe, WF Blum, JF Weigel, SJ Rhodes |
The Journal of clinical endocrinology and metabolism | 2008 |
KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging
K Ocorr, NL Reeves, RJ Wessells, M Fink, HS Chen, T Akasaka, S Yasuda, JM Metzger, W Giles, JW Posakony, R Bodmer |
Proceedings of the National Academy of Sciences | 2007 |
Modeling complex genetic interactions in a simple eukaryotic genome: actin displays a rich spectrum of complex haploinsufficiencies
B Haarer, S Viggiano, MA Hibbs, OG Troyanskaya, DC Amberg |
Genes & development | 2007 |
Dosage-dependent rescue of definitive nephrogenesis by a distant Gata3 enhancer
SL Hasegawa, T Moriguchi, A Rao, T Kuroha, JD Engel, KC Lim |
Developmental Biology | 2007 |
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.
Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM |
The American Journal of Human Genetics | 2007 |
Functional Characterization of the Putative Aspergillus nidulans Poly(ADP-Ribose) Polymerase Homolog PrpA
CP Semighini, M Savoldi, GH Goldman, SD Harris |
Genetics | 2006 |
Homeodomain revisited: a lesson from disease-causing mutations
YI Chi |
Human Genetics | 2005 |
T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis
CL Cai |
Development (Cambridge, England) | 2005 |
Severe Defects in Proliferation and Differentiation of Lens Cells in Foxe3 Null Mice
O Medina-Martinez, I Brownell, F Amaya-Manzanares, Q Hu, RR Behringer, M Jamrich |
Molecular and cellular biology | 2005 |
Mechanisms of Haploinsufficiency Revealed by Genome-Wide Profiling in Yeast
AM Deutschbauer, DF Jaramillo, M Proctor, J Kumm, ME Hillenmeyer, RW Davis, C Nislow, G Giaever |
Genetics | 2005 |
Associations between human disease genes and overlapping gene groups and multiple amino acid runs
S Karlin, C Chen, AJ Gentles, M Cleary |
Proceedings of the National Academy of Sciences | 2002 |
A rheostat model for a rapid and reversible form of imprinting-dependent evolution.
Beaudet AL, Jiang YH |
The American Journal of Human Genetics | 2002 |