Literature DB >> 26938780

An electronic atlas of human malformation syndromes in diverse populations.

Maximilian Muenke1, Adebowale Adeyemo2, Paul Kruszka1.   

Abstract

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Year:  2016        PMID: 26938780     DOI: 10.1038/gim.2016.3

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


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  6 in total

1.  American Academy of Pediatrics: Health care supervision for children with Williams syndrome.

Authors: 
Journal:  Pediatrics       Date:  2001-05       Impact factor: 7.124

2.  Variation in fontanelle size with gestational age.

Authors:  A A Adeyemo; O O Omotade
Journal:  Early Hum Dev       Date:  1999-04       Impact factor: 2.079

3.  Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.

Authors:  Cedrik Tekendo-Ngongang; Sophie Dahoun; Seraphin Nguefack; Stefania Gimelli; Frédérique Sloan-Béna; Ambroise Wonkam
Journal:  Mol Syndromol       Date:  2014-11-29

4.  Global, regional, and national causes of child mortality: an updated systematic analysis for 2010 with time trends since 2000.

Authors:  Li Liu; Hope L Johnson; Simon Cousens; Jamie Perin; Susana Scott; Joy E Lawn; Igor Rudan; Harry Campbell; Richard Cibulskis; Mengying Li; Colin Mathers; Robert E Black
Journal:  Lancet       Date:  2012-05-11       Impact factor: 79.321

Review 5.  Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.

Authors:  Maya Koretzky; Vence L Bonham; Benjamin E Berkman; Paul Kruszka; Adebowale Adeyemo; Maximilian Muenke; Sara Chandros Hull
Journal:  Genet Med       Date:  2016-03-10       Impact factor: 8.822

6.  Genetics and genomics in Thailand: challenges and opportunities.

Authors:  Vorasuk Shotelersuk; Chanin Limwongse; Surakameth Mahasirimongkol
Journal:  Mol Genet Genomic Med       Date:  2014-05-14       Impact factor: 2.183

  6 in total
  15 in total

1.  Turner syndrome in diverse populations.

Authors:  Paul Kruszka; Yonit A Addissie; Cedrik Tekendo-Ngongang; Kelly L Jones; Sarah K Savage; Neerja Gupta; Nirmala D Sirisena; Vajira H W Dissanayake; C Sampath Paththinige; Teresa Aravena; Sheela Nampoothiri; Dhanya Yesodharan; Katta M Girisha; Siddaramappa Jagdish Patil; Saumya Shekhar Jamuar; Jasmine Chew-Yin Goh; Agustini Utari; Nydia Sihombing; Rupesh Mishra; Neer Shoba Chitrakar; Brenda C Iriele; Ezana Lulseged; Andre Megarbane; Annette Uwineza; Elizabeth Eberechi Oyenusi; Oluwarotimi Bolaji Olopade; Olufemi Adetola Fasanmade; Milagros M Duenas-Roque; Meow-Keong Thong; Joanna Y L Tung; Gary T K Mok; Nicole Fleischer; Godfrey M Rwegerera; María Beatriz de Herreros; Johnathan Watts; Karen Fieggen; Victoria Huckstadt; Angélica Moresco; María Gabriela Obregon; Dalia Farouk Hussen; Neveen A Ashaat; Engy A Ashaat; Brian H Y Chung; Eben Badoe; Sultana M H Faradz; Mona O El Ruby; Vorasuk Shotelersuk; Ambroise Wonkam; Ekanem Nsikak Ekure; Shubha R Phadke; Antonio Richieri-Costa; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2019-12-19       Impact factor: 2.802

2.  Cornelia de Lange syndrome in diverse populations.

Authors:  Leah Dowsett; Antonio R Porras; Paul Kruszka; Brandon Davis; Tommy Hu; Engela Honey; Eben Badoe; Meow-Keong Thong; Eyby Leon; Katta M Girisha; Anju Shukla; Shalini S Nayak; Vorasuk Shotelersuk; Andre Megarbane; Shubha Phadke; Nirmala D Sirisena; Vajira H W Dissanayake; Carlos R Ferreira; Monisha S Kisling; Pranoot Tanpaiboon; Annette Uwineza; Leon Mutesa; Cedrik Tekendo-Ngongang; Ambroise Wonkam; Karen Fieggen; Leticia Cassimiro Batista; Danilo Moretti-Ferreira; Roger E Stevenson; Eloise J Prijoles; David Everman; Kate Clarkson; Jessica Worthington; Virginia Kimonis; Fuki Hisama; Carol Crowe; Paul Wong; Kisha Johnson; Robin D Clark; Lynne Bird; Diane Masser-Frye; Marie McDonald; Patrick Willems; Elizabeth Roeder; Sulgana Saitta; Kwame Anyane-Yeoba; Laurie Demmer; Naoki Hamajima; Zornitza Stark; Greta Gillies; Louanne Hudgins; Usha Dave; Stavit Shalev; Victoria Siu; Ann Ades; Holly Dubbs; Sarah Raible; Maninder Kaur; Emanuela Salzano; Laird Jackson; Matthew Deardorff; Antonie Kline; Marshall Summar; Maximilian Muenke; Marius George Linguraru; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2019-01-06       Impact factor: 2.802

3.  22q11.2 deletion syndrome in diverse populations.

Authors:  Paul Kruszka; Yonit A Addissie; Daniel E McGinn; Antonio R Porras; Elijah Biggs; Matthew Share; T Blaine Crowley; Brian H Y Chung; Gary T K Mok; Christopher C Y Mak; Premala Muthukumarasamy; Meow-Keong Thong; Nirmala D Sirisena; Vajira H W Dissanayake; C Sampath Paththinige; L B Lahiru Prabodha; Rupesh Mishra; Vorasuk Shotelersuk; Ekanem Nsikak Ekure; Ogochukwu Jidechukwu Sokunbi; Nnenna Kalu; Carlos R Ferreira; Jordann-Mishael Duncan; Siddaramappa Jagdish Patil; Kelly L Jones; Julie D Kaplan; Omar A Abdul-Rahman; Annette Uwineza; Leon Mutesa; Angélica Moresco; María Gabriela Obregon; Antonio Richieri-Costa; Vera L Gil-da-Silva-Lopes; Adebowale A Adeyemo; Marshall Summar; Elaine H Zackai; Donna M McDonald-McGinn; Marius George Linguraru; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2017-04       Impact factor: 2.802

4.  Noonan syndrome in diverse populations.

Authors:  Paul Kruszka; Antonio R Porras; Yonit A Addissie; Angélica Moresco; Sofia Medrano; Gary T K Mok; Gordon K C Leung; Cedrik Tekendo-Ngongang; Annette Uwineza; Meow-Keong Thong; Premala Muthukumarasamy; Engela Honey; Ekanem N Ekure; Ogochukwu J Sokunbi; Nnenna Kalu; Kelly L Jones; Julie D Kaplan; Omar A Abdul-Rahman; Lisa M Vincent; Amber Love; Khadija Belhassan; Karim Ouldim; Ihssane El Bouchikhi; Anju Shukla; Katta M Girisha; Siddaramappa J Patil; Nirmala D Sirisena; Vajira H W Dissanayake; C Sampath Paththinige; Rupesh Mishra; Eva Klein-Zighelboim; Bertha E Gallardo Jugo; Miguel Chávez Pastor; Hugo H Abarca-Barriga; Steven A Skinner; Eloise J Prijoles; Eben Badoe; Ashleigh D Gill; Vorasuk Shotelersuk; Patroula Smpokou; Monisha S Kisling; Carlos R Ferreira; Leon Mutesa; Andre Megarbane; Antonie D Kline; Amy Kimball; Emmy Okello; Peter Lwabi; Twalib Aliku; Emmanuel Tenywa; Nonglak Boonchooduang; Pranoot Tanpaiboon; Antonio Richieri-Costa; Ambroise Wonkam; Brian H Y Chung; Roger E Stevenson; Marshall Summar; Kausik Mandal; Shubha R Phadke; María G Obregon; Marius G Linguraru; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2017-07-27       Impact factor: 2.802

Review 5.  The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa.

Authors:  Victoria de Menil; Michelle Hoogenhout; Patricia Kipkemoi; Dorcas Kamuya; Emma Eastman; Alice Galvin; Katini Mwangasha; Jantina de Vries; Symon M Kariuki; Serini Murugasen; Paul Mwangi; Ilina Singh; Dan J Stein; Amina Abubakar; Charles R Newton; Kirsten A Donald; Elise Robinson
Journal:  Neuron       Date:  2019-01-02       Impact factor: 17.173

Review 6.  Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.

Authors:  Maya Koretzky; Vence L Bonham; Benjamin E Berkman; Paul Kruszka; Adebowale Adeyemo; Maximilian Muenke; Sara Chandros Hull
Journal:  Genet Med       Date:  2016-03-10       Impact factor: 8.822

7.  Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Authors:  Andrew K Sobering; Dong Li; Jennifer S Beighley; John C Carey; Tyhiesia Donald; Sarah H Elsea; Karla P Figueroa; Jennifer Gerdts; Andre Hamlet; Ghayda M Mirzaa; Beverly Nelson; Stefan M Pulst; Janice L Smith; Flora Tassone; Helga V Toriello; Ruth H Walker; Katherine R Yearwood; Elizabeth J Bhoj
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-12-04       Impact factor: 3.908

8.  Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.

Authors:  Antonio R Porras; Marshal Summar; Marius George Linguraru
Journal:  Mol Genet Genomic Med       Date:  2021-03-27       Impact factor: 2.183

9.  Williams-Beuren syndrome in diverse populations.

Authors:  Paul Kruszka; Antonio R Porras; Deise Helena de Souza; Angélica Moresco; Victoria Huckstadt; Ashleigh D Gill; Alec P Boyle; Tommy Hu; Yonit A Addissie; Gary T K Mok; Cedrik Tekendo-Ngongang; Karen Fieggen; Eloise J Prijoles; Pranoot Tanpaiboon; Engela Honey; Ho-Ming Luk; Ivan F M Lo; Meow-Keong Thong; Premala Muthukumarasamy; Kelly L Jones; Khadija Belhassan; Karim Ouldim; Ihssane El Bouchikhi; Laila Bouguenouch; Anju Shukla; Katta M Girisha; Nirmala D Sirisena; Vajira H W Dissanayake; C Sampath Paththinige; Rupesh Mishra; Monisha S Kisling; Carlos R Ferreira; María Beatriz de Herreros; Ni-Chung Lee; Saumya S Jamuar; Angeline Lai; Ee Shien Tan; Jiin Ying Lim; Cham Breana Wen-Min; Neerja Gupta; Stephanie Lotz-Esquivel; Ramsés Badilla-Porras; Dalia Farouk Hussen; Mona O El Ruby; Engy A Ashaat; Siddaramappa J Patil; Leah Dowsett; Alison Eaton; A Micheil Innes; Vorasuk Shotelersuk; Ëben Badoe; Ambroise Wonkam; María Gabriela Obregon; Brian H Y Chung; Milana Trubnykova; Jorge La Serna; Bertha Elena Gallardo Jugo; Miguel Chávez Pastor; Hugo Hernán Abarca Barriga; Andre Megarbane; Beth A Kozel; Mieke M van Haelst; Roger E Stevenson; Marshall Summar; A Adebowale Adeyemo; Colleen A Morris; Danilo Moretti-Ferreira; Marius George Linguraru; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2018-05       Impact factor: 2.578

10.  Clinical genetics and genomic medicine in Qatar.

Authors:  Nader Al-Dewik; Mariam Al-Mureikhi; Noora Shahbeck; Rehab Ali; Fatma Al-Mesaifri; Laila Mahmoud; Amna Othman; Mariam AlMulla; Reem Al Sulaiman; Sara Musa; Ghassan Abdoh; Karen El-Akouri; Benjamin D Solomon; Tawfeg Ben-Omran
Journal:  Mol Genet Genomic Med       Date:  2018-09       Impact factor: 2.183

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