Baylor Hopkins Center for Mendelian Genomics (BH CMG)

Mechanisms underlying structural variant formation in genomic disorders

C. Carvalho, J. Lupski. (2016). Nature Reviews Genetics. Cited 642 times. https://doi.org/10.1038/nrg.2015.25

Human genome sequencing in health and disease.

C. Gonzaga‐Jauregui, J. Lupski, R. Gibbs. (2012). Annual review of medicine. Cited 462 times. https://doi.org/10.1146/annurev-med-051010-162644

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

J. Reid, Andrew Carroll, N. Veeraraghavan, et al.. (2014). BMC Bioinformatics. Cited 216 times. https://doi.org/10.1186/1471-2105-15-30

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

H. Kuehn, B. Boisson, C. Cunningham-Rundles, et al.. (2016). The New England journal of medicine. Cited 213 times. https://doi.org/10.1056/NEJMoa1512234

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, et al.. (2014). The Lancet. Neurology. Cited 164 times. https://doi.org/10.1016/S1474-4422(13)70265-5

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Bo Yuan, D. Pehlivan, E. Karaca, et al.. (2015). The Journal of clinical investigation. Cited 150 times. https://doi.org/10.1172/JCI77435

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

Y. Cheung, T. Gayden, Philippe M. Campeau, et al.. (2013). American journal of human genetics. Cited 148 times. https://doi.org/10.1016/j.ajhg.2013.04.026

Germ-line and somatic DICER1 mutations in pineoblastoma

L. Kock, N. Sabbaghian, H. Druker, et al.. (2014). Acta Neuropathologica. Cited 147 times. https://doi.org/10.1007/s00401-014-1318-7

The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions

M. Bamshad, J. Shendure, D. Valle, et al.. (2012). American Journal of Medical Genetics Part A. Cited 127 times. https://doi.org/10.1002/ajmg.a.35470

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

P. Szafranski, T. Gambin, Avinash V Dharmadhikari, et al.. (2016). Human Genetics. Cited 92 times. https://doi.org/10.1007/s00439-016-1655-9

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

Janson J. White, J. Mazzeu, A. Hoischen, et al.. (2016). American journal of human genetics. Cited 91 times. https://doi.org/10.1016/j.ajhg.2016.01.005

POGZ truncating alleles cause syndromic intellectual disability

Janson J. White, C. Beck, T. Harel, et al.. (2016). Genome Medicine. Cited 89 times. https://doi.org/10.1186/s13073-015-0253-0

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

J. Rainger, D. Pehlivan, S. Johansson, et al.. (2014). American journal of human genetics. Cited 88 times. https://doi.org/10.1016/j.ajhg.2014.05.005

Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes

L. Shenje, Peter Andersen, M. Halushka, et al.. (2014). Nature communications. Cited 77 times. https://doi.org/10.1038/ncomms4416

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

A. Daly, Bo Yuan, F. Fina, et al.. (2016). Endocrine-related cancer. Cited 77 times. https://doi.org/10.1530/ERC-16-0082

Whole-Exome Sequencing in Familial Parkinson Disease.

Janice L. Farlow, L. Robak, K. Hetrick, et al.. (2016). JAMA neurology. Cited 71 times. https://doi.org/10.1001/jamaneurol.2015.3266

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

C. Gonzaga‐Jauregui, Candace N Gamble, Bo Yuan, et al.. (2014). European Journal of Human Genetics. Cited 68 times. https://doi.org/10.1038/ejhg.2014.107

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

C. Ockeloen, K. D. Khandelwal, K. Dreesen, et al.. (2016). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 68 times. https://doi.org/10.1038/gim.2016.10

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Philip M Boone, I. Campbell, Brett C. Baggett, et al.. (2013). Genome Research. Cited 66 times. https://doi.org/10.1101/gr.156075.113

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

J. Hoover-Fong, N. Sobreira, J. Jurgens, et al.. (2014). American journal of human genetics. Cited 53 times. https://doi.org/10.1016/j.ajhg.2013.11.018

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

A. Stray-Pedersen, J. Cobben, T. Prescott, et al.. (2016). American journal of human genetics. Cited 45 times. https://doi.org/10.1016/j.ajhg.2015.11.004

Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.

B. Yu, Alexander Hanbo Li, D. Muzny, et al.. (2015). Circulation: Cardiovascular Genetics. Cited 44 times. https://doi.org/10.1161/CIRCGENETICS.114.000697

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

R. Riveiro-Alvarez, Y. Xie, M. López-Martínez, et al.. (2015). JAMA ophthalmology. Cited 35 times. https://doi.org/10.1001/jamaophthalmol.2014.4266

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Carlos E. Prada, C. Gonzaga‐Jauregui, R. Tannenbaum, et al.. (2014). European journal of medical genetics. Cited 31 times. https://doi.org/10.1016/j.ejmg.2014.04.005

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

Philip M Boone, Bo Yuan, Shen Gu, et al.. (2015). Molecular Genetics & Genomic Medicine. Cited 29 times. https://doi.org/10.1002/mgg3.181

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

I. Campbell, T. Gambin, S. Jhangiani, et al.. (2016). Human Mutation. Cited 25 times. https://doi.org/10.1002/humu.22944

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

F. Collison, Y. Xie, T. Gambin, et al.. (2015). Ophthalmic Genetics. Cited 23 times. https://doi.org/10.3109/13816810.2015.1010736

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

C. Murali, James T. Lu, Mahim Jain, et al.. (2014). Molecular Genetics and Metabolism Reports. Cited 22 times. https://doi.org/10.1016/j.ymgmr.2014.04.004

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

D. Pehlivan, C. Beck, Y. Okamoto, et al.. (2015). Genetics in Medicine. Cited 20 times. https://doi.org/10.1038/gim.2015.124

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Joe C H Sim, S. White, E. Fitzpatrick, et al.. (2014). Orphanet Journal of Rare Diseases. Cited 19 times. https://doi.org/10.1186/1750-1172-9-43

Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation

Shen Gu, J. Posey, Bo Yuan, et al.. (2016). Human Mutation. Cited 16 times. https://doi.org/10.1002/humu.22929

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

S. Ben-Salem, N. Sobreira, N. Akawi, et al.. (2016). American Journal of Medical Genetics Part A. Cited 15 times. https://doi.org/10.1002/ajmg.a.37405

Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion

M. Migliavacca, Nara Sobreira, G.P.M. Antonialli, et al.. (2014). American Journal of Medical Genetics Part A. Cited 14 times. https://doi.org/10.1002/ajmg.a.36425

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

B. Tuysuz, D. Pehlivan, A. Özkök, et al.. (2016). JIMD reports. Cited 14 times. https://doi.org/10.1007/8904_2015_478

Chimeric transcripts resulting from complex duplications in chromosome Xq28

Luciana W. Zuccherato, Benjamin Alleva, Marjorie A. Whiters, et al.. (2016). Human Genetics. Cited 12 times. https://doi.org/10.1007/s00439-015-1614-x