Wojciech Wiszniewski, M.D., Ph.D.

  • Associate Professor of Molecular and Medical Genetics, School of Medicine

Biography

Dr. Wiszniewski provides care for pediatric and adult patients presenting with a broad range of hereditary conditions. He is particularly interested in consulting patients with undiagnosed and rare genetic conditions that require comprehensive genomic analysis. His research involves the application of next generation sequencing and chromosomal microarrays to investigate patients with hereditary peripheral nerve diseases such as Charcot-Marie-Tooth neuropathy (CMT) and complex neurologic phenotypes with a neuropathic component to identify novel disease-causing genes.

Education and training

  • Degrees

    • M.D., 2001, Warsaw Medical University
    • Ph.D., 2002, Institute of Mother and Child

  • Residency

    • Clinical Genetics, Baylor College of Medicine, 2011

  • Certifications

    • American Board of Medical Genetics and Genomics, 2011

Memberships and associations:

  • American College of Medical Genetics and Genomics

Publications

Elsevier pure profile

Publications

  • Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Cell Death and Disease
    1. Elizabeth A. Werren
    2. Emily R. Peirent
    3. Henna Jantti
    4. Alba Guxholli
    5. Kinshuk Raj Srivastava
    6. Naama Orenstein
    7. Vinodh Narayanan
    8. Wojciech Wiszniewski
    9. Mateusz Dawidziuk
    10. Pawel Gawlinski
    11. Muhammad Umair
    12. Amjad Khan
    13. Shahid Niaz Khan
    14. David Geneviève
    15. Daphné Lehalle
    16. K. L.I. van Gassen
    17. Jacques C. Giltay
    18. Renske Oegema
    19. Richard H. van Jaarsveld
    20. Rafiullah Rafiullah
    21. Gudrun A. Rappold
    22. Rachel Rabin
    23. John G. Pappas
    24. Marsha M. Wheeler
    25. Michael J. Bamshad
    26. Yao Chang Tsan
    27. Matthew B. Johnson
    28. Catherine E. Keegan
    29. Anshika Srivastava
    30. Stephanie L. Bielas

  • Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons

    Annals of Vascular Surgery
    1. James M. Dittman
    2. Siddharth K. Prakash
    3. Prem Chand Gupta
    4. Wojciech Wiszniewski
    5. Niten Singh
    6. Matthew R. Smeds
    7. Sherene Shalhub

  • Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

    Genome Medicine
    1. Davut Pehlivan
    2. Jesse D. Bengtsson
    3. Sameer S. Bajikar
    4. Christopher M. Grochowski
    5. Ming Yin Lun
    6. Mira Gandhi
    7. Angad Jolly
    8. Alexander J. Trostle
    9. Holly K. Harris
    10. Bernhard Suter
    11. Sukru Aras
    12. Melissa B. Ramocki
    13. Haowei Du
    14. Michele G. Mehaffey
    15. Kyung Hee Park
    16. Ellen Wilkey
    17. Cemal Karakas
    18. Jesper J. Eisfeldt
    19. Maria Pettersson
    20. Lynn Liu
    21. Marwan S. Shinawi
    22. Virginia E. Kimonis
    23. Wojciech Wiszniewski
    24. Kyle Mckenzie
    25. Timo Roser
    26. Angela M. Vianna-Morgante
    27. Alberto S. Cornier
    28. Ahmed Abdelmoity
    29. James P. Hwang
    30. Shalini N. Jhangiani
    31. Donna M. Muzny
    32. Tadahiro Mitani
    33. Kazuhiro Muramatsu
    34. Shin Nabatame
    35. Daniel G. Glaze
    36. Jawid M. Fatih
    37. Richard A. Gibbs
    38. Zhandong Liu
    39. Anna Lindstrand
    40. Fritz J. Sedlazeck
    41. James R. Lupski
    42. Huda Y. Zoghbi
    43. Claudia M.B. Carvalho

  • Congenital coenzyme Q5-linked pathology

    Journal of Applied Genetics
    1. Mateusz Dawidziuk
    2. Aleksandra Podwysocka
    3. Marta Jurek
    4. Ewa Obersztyn
    5. Monika Bekiesinska-Figatowska
    6. Alicja Goszczanska-Ciuchta
    7. Ewelina Bukowska-Olech
    8. Agnieszka Magdalena Rygiel
    9. Dorothy Lys Guilbride
    10. Wojciech Wiszniewski
    11. Pawel Gawlinski

  • Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    American Journal of Human Genetics
    1. Daniel G. Calame
    2. Tianyu Guo
    3. Chen Wang
    4. Lillian Garrett
    5. Angad Jolly
    6. Moez Dawood
    7. Alina Kurolap
    8. Noa Zunz Henig
    9. Jawid M. Fatih
    10. Isabella Herman
    11. Haowei Du
    12. Tadahiro Mitani
    13. Lore Becker
    14. Birgit Rathkolb
    15. Raffaele Gerlini
    16. Claudia Seisenberger
    17. Susan Marschall
    18. Jill V. Hunter
    19. Amanda Gerard
    20. Alexis Heidlebaugh
    21. Thomas Challman
    22. Rebecca C. Spillmann
    23. Shalini N. Jhangiani
    24. Zeynep Coban-Akdemir
    25. Seema Lalani
    26. Lingxiao Liu
    27. Anya Revah-Politi
    28. Alejandro Iglesias
    29. Edwin Guzman
    30. Evan Baugh
    31. Nathalie Boddaert
    32. Sophie Rondeau
    33. Clothide Ormieres
    34. Giulia Barcia
    35. Queenie K.G. Tan
    36. Isabelle Thiffault
    37. Tomi Pastinen
    38. Kazim Sheikh
    39. Suur Biliciler
    40. Davide Mei
    41. Federico Melani
    42. Vandana Shashi
    43. Yuval Yaron
    44. Mary Steele
    45. Emma Wakeling
    46. Elsebet Østergaard
    47. Lusine Nazaryan-Petersen
    48. Francisca Millan
    49. Teresa Santiago-Sim
    50. Wojciech Wiszniewski

  • Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

    American Journal of Human Genetics
    1. Timothy D. O'Brien
    2. Amiee B. Potter
    3. Catherine C. Driscoll
    4. Gregory Goh
    5. John H. Letaw
    6. Sarah McCabe
    7. Jane Thanner
    8. Arpita Kulkarni
    9. Rossana Wong
    10. Samuel Medica
    11. Tiana Week
    12. Jacob Buitrago
    13. Aaron Larson
    14. Katie Johnson Camacho
    15. Kim Brown
    16. Rachel Crist
    17. Casey Conrad
    18. Sara Evans-Dutson
    19. Ryan Lutz
    20. Asia Mitchell
    21. Pavana Anur
    22. Vanessa Serrato
    23. Autumn Shafer
    24. Lisa K. Marriott
    25. K. J. Hamman
    26. Amelia Mulford
    27. Wojciech Wiszniewski
    28. Jone E. Sampson
    29. Andrew Adey
    30. Brian J. O'Roak
    31. Christina A. Harrington
    32. Jackilen Shannon
    33. Paul T. Spellman
    34. C. Sue Richards

  • EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

    American Journal of Human Genetics
    1. Christin S. Adamo
    2. Aude Beyens
    3. Alvise Schiavinato
    4. Douglas R. Keene
    5. Sara F. Tufa
    6. Matthias Mörgelin
    7. Jürgen Brinckmann
    8. Takako Sasaki
    9. Anja Niehoff
    10. Maren Dreiner
    11. Lore Pottie
    12. Laura Muiño-Mosquera
    13. Elif Yilmaz Gulec
    14. Alper Gezdirici
    15. Paola Braghetta
    16. Paolo Bonaldo
    17. Raimund Wagener
    18. Mats Paulsson
    19. Helen Bornaun
    20. Riet De Rycke
    21. Michiel De Bruyne
    22. Femke Baeke
    23. Walter P. Devine
    24. Balram Gangaram
    25. Allison Tam
    26. Meena Balasubramanian
    27. Sian Ellard
    28. Sandra Moore
    29. Sofie Symoens
    30. Joseph Shen
    31. Stacey Cole
    32. Ulrike Schwarze
    33. Kathryn W. Holmes
    34. Susan J. Hayflick
    35. Wojciech Wiszniewski
    36. Sheela Nampoothiri
    37. Elaine C. Davis
    38. Lynn Y. Sakai
    39. Gerhard Sengle
    40. Bert Callewaert

  • Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes

    Human mutation
    1. Alayne P. Meyer
    2. Megan E. Forrest
    3. Stefan Nicolau
    4. Wojciech Wiszniewski
    5. Mary Pat Bland
    6. Chang Yong Tsao
    7. Anthony Antonellis
    8. Nicolas J. Abreu

  • Exome sequencing reveals novel variants and expands the genetic landscape for congenital microcephaly

    Genes
    1. Mateusz Dawidziuk
    2. Tomasz Gambin
    3. Ewelina Bukowska-Olech
    4. Dorota Antczak-Marach
    5. Magdalena Badura-Stronka
    6. Piotr Buda
    7. Edyta Budzynska
    8. Jennifer Castaneda
    9. Tatiana Chilarska
    10. Elzbieta Czyzyk
    11. Anna Eckersdorf-Mastalerz
    12. Jolanta Fijak-Moskal
    13. Dorota Gieruszczak-Bialek
    14. Ewelina Glodek-Brzozowska
    15. Alicja Goszczanska-Ciuchta
    16. Malgorzata Grzeszykowska-Podymniak
    17. Barbara Gurda
    18. Anna Jakubiuk-Tomaszuk
    19. Ewa Jamroz
    20. Magdalena Janeczko
    21. Dominika Jedlińska-Pijanowska
    22. Marta Jurek
    23. Dagmara Karolewska
    24. Adela Kazmierczak
    25. Teresa Kleist
    26. Iwona Kochanowska
    27. Malgorzata Krajewska-Walasek
    28. Katarzyna Kufel
    29. Anna Kutkowska-Kaźmierczak
    30. Agata Lipiec
    31. Dorota Maksym-Gasiorek
    32. Anna Materna-Kiryluk
    33. Hanna Mazurkiewicz
    34. Michał Milewski
    35. Tatsiana Pavina-Guglas
    36. Aleksandra Pietrzyk
    37. Renata Posmyk
    38. Antoni Pyrkosz
    39. Mariola Rudzka-Dybala
    40. Ryszard Slezak
    41. Marzena Wisniewska
    42. Zofia Zalewska-Miszkurka
    43. Elzbieta Szczepanik
    44. Ewa Obersztyn
    45. Monika Bekiesinska-Figatowska
    46. Pawel Gawlinski
    47. Wojciech Wiszniewski

  • Further delineation of phenotype and genotype of primary microcephaly syndrome with cortical malformations associated with mutations in the wdr62 gene

    Genes
    1. Ryszard Slezak
    2. Robert Smigiel
    3. Ewa Obersztyn
    4. Agnieszka Pollak
    5. Mateusz Dawidziuk
    6. Wojciech Wiszniewski
    7. Monika Bekiesinska-Figatowska
    8. Malgorzata Rydzanicz
    9. Rafal Ploski
    10. Pawel Gawlinski

  • The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981∗)

    Journal of mother and child
    1. Mateusz Dawidziuk
    2. Anna Kutkowska-Kazmierczak
    3. Paweł Gawliński
    4. Wojciech Wiszniewski
    5. Monika Gos
    6. Piotr Stawiński
    7. Małgorzata Rydzanicz
    8. Joanna Kosińska
    9. Paweł Własienko
    10. Olga Malinowska Kordowska
    11. Magdalena Bartnik-Głaska
    12. Joanna Bernaciak
    13. Krzysztof Szczałuba
    14. Monika Bekiesińska-Figatowska
    15. Rafał Płoski
    16. Jerzy Bal
    17. Sylwia Olimpia Rzońca-Niewczas

  • Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

    Neuron
    1. Andrew Kodani
    2. Connor Kenny
    3. Abbe Lai
    4. Dilenny M. Gonzalez
    5. Edward Stronge
    6. Gabrielle M. Sejourne
    7. Laura Isacco
    8. Jennifer N. Partlow
    9. Anne O'Donnell
    10. Kirsty McWalter
    11. Alicia B. Byrne
    12. A. James Barkovich
    13. Edward Yang
    14. R. Sean Hill
    15. Pawel Gawlinski
    16. Wojciech Wiszniewski
    17. Julie S. Cohen
    18. S. Ali Fatemi
    19. Kristin W. Baranano
    20. Mustafa Sahin
    21. David G. Vossler
    22. Christopher J. Yuskaitis
    23. Christopher A. Walsh

  • Screening for genetic mutations in patients with neuropathy without definite etiology is useful

    Journal of Neurology
    1. Braden Vogt
    2. Nizar Chahin
    3. Wojciech Wiszniewski
    4. Thomas Ragole
    5. Chafic Karam

  • A patient with berardinelli-seip syndrome, novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy

    JCRPE Journal of Clinical Research in Pediatric Endocrinology
    1. Joanna Oswiecimska
    2. Mateusz Dawidziuk
    3. Tomasz Gambin
    4. Katarzyna Ziora
    5. Marta Marek
    6. Sylwia Rzonca
    7. D. Lys Guilbride
    8. Shalini N. Jhangiani
    9. Anna Obuchowicz
    10. Alicja Sikora
    11. James R. Lupski
    12. Wojciech Wiszniewski
    13. Pawel Gawlinski

  • Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

    American Journal of Human Genetics
    1. Tadahiro Mitani
    2. Jaya Punetha
    3. Ibrahim Akalin
    4. Davut Pehlivan
    5. Mateusz Dawidziuk
    6. Zeynep Coban Akdemir
    7. Sarenur Yilmaz
    8. Ezgi Aslan
    9. Jill V. Hunter
    10. Hadia Hijazi
    11. Christopher M. Grochowski
    12. Shalini N. Jhangiani
    13. Ender Karaca
    14. Jawid M. Fatih
    15. Piotr Iwanowski
    16. Tomasz Gambin
    17. Pawel Wlasienko
    18. Alicja Goszczanska-Ciuchta
    19. Monika Bekiesinska-Figatowska
    20. Masoumeh Hosseini
    21. Sanaz Arzhangi
    22. Hossein Najmabadi
    23. Jill A. Rosenfeld
    24. Haowei Du
    25. Dana Marafi
    26. Susan Blaser
    27. Ronni Teitelbaum
    28. Rachel Silver
    29. Jennifer E. Posey
    30. Hans Hilger Ropers
    31. Richard A. Gibbs
    32. Wojciech Wiszniewski
    33. James R. Lupski
    34. David Chitayat
    35. Kimia Kahrizi
    36. Pawel Gawlinski

  • Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    American Journal of Human Genetics
    1. Pamela Magini
    2. Daphne J. Smits
    3. Laura Vandervore
    4. Rachel Schot
    5. Marta Columbaro
    6. Esmee Kasteleijn
    7. Mees van der Ent
    8. Flavia Palombo
    9. Maarten H. Lequin
    10. Marjolein Dremmen
    11. Marie Claire Y. de Wit
    12. Mariasavina Severino
    13. Maria Teresa Divizia
    14. Pasquale Striano
    15. Natalia Ordonez-Herrera
    16. Amal Alhashem
    17. Ahmed Al Fares
    18. Malak Al Ghamdi
    19. Arndt Rolfs
    20. Peter Bauer
    21. Jeroen Demmers
    22. Frans W. Verheijen
    23. Martina Wilke
    24. Marjon van Slegtenhorst
    25. Peter J. van der Spek
    26. Marco Seri
    27. Anna C. Jansen
    28. Rolf W. Stottmann
    29. Robert B. Hufnagel
    30. Robert J. Hopkin
    31. Deema Aljeaid
    32. Wojciech Wiszniewski
    33. Pawel Gawlinski
    34. Milena Laure-Kamionowska
    35. Fowzan S. Alkuraya
    36. Hanah Akleh
    37. Valentina Stanley
    38. Damir Musaev
    39. Joseph G. Gleeson
    40. Maha S. Zaki
    41. Nicola Brunetti-Pierri
    42. Gerarda Cappuccio
    43. Bella Davidov
    44. Lina Basel-Salmon
    45. Lily Bazak
    46. Noa Ruhrman Shahar
    47. Aida Bertoli-Avella
    48. Ghayda M. Mirzaa
    49. William B. Dobyns
    50. Tommaso Pippucci
    51. Maarten Fornerod
    52. Grazia M.S. Mancini

  • Comprehensive genomic analysis of patients with disorders of cerebral cortical development

    European Journal of Human Genetics
    1. Wojciech Wiszniewski
    2. Pawel Gawlinski
    3. Tomasz Gambin
    4. Monika Bekiesinska-Figatowska
    5. Ewa Obersztyn
    6. Dorota Antczak-Marach
    7. Zeynep Hande Coban Akdemir
    8. Tamar Harel
    9. Ender Karaca
    10. Marta Jurek
    11. Katarzyna Sobecka
    12. Beata Nowakowska
    13. Malgorzata Kruk
    14. Iwona Terczynska
    15. Alicja Goszczanska-Ciuchta
    16. Mariola Rudzka-Dybala
    17. Ewa Jamroz
    18. Antoni Pyrkosz
    19. Anna Jakubiuk-Tomaszuk
    20. Piotr Iwanowski
    21. Dorota Gieruszczak-Bialek
    22. Malgorzata Piotrowicz
    23. Maria Sasiadek
    24. Iwona Kochanowska
    25. Barbara Gurda
    26. Barbara Steinborn
    27. Mateusz Dawidziuk
    28. Jennifer Castaneda
    29. Pawel Wlasienko
    30. Natalia Bezniakow
    31. Shalini N. Jhangiani
    32. Dorota Hoffman-Zacharska
    33. Jerzy Bal
    34. Elzbieta Szczepanik
    35. Eric Boerwinkle
    36. Richard A. Gibbs
    37. James R. Lupski

  • Lessons learned from additional research analyses of unsolved clinical exome cases

    Genome Medicine
    1. Mohammad K. Eldomery
    2. Zeynep Coban-Akdemir
    3. Tamar Harel
    4. Jill A. Rosenfeld
    5. Tomasz Gambin
    6. Asbjørg Stray-Pedersen
    7. Sébastien Küry
    8. Sandra Mercier
    9. Davor Lessel
    10. Jonas Denecke
    11. Wojciech Wiszniewski
    12. Samantha Penney
    13. Pengfei Liu
    14. Weimin Bi
    15. Seema R. Lalani
    16. Christian P. Schaaf
    17. Michael F. Wangler
    18. Carlos A. Bacino
    19. Richard Alan Lewis
    20. Lorraine Potocki
    21. Brett H. Graham
    22. John W. Belmont
    23. Fernando Scaglia
    24. Jordan S. Orange
    25. Shalini N. Jhangiani
    26. Theodore Chiang
    27. Harsha Doddapaneni
    28. Jianhong Hu
    29. Donna M. Muzny
    30. Fan Xia
    31. Arthur L. Beaudet
    32. Eric Boerwinkle
    33. Christine M. Eng
    34. Sharon E. Plon
    35. V. Reid Sutton
    36. Richard A. Gibbs
    37. Jennifer E. Posey
    38. Yaping Yang
    39. James R. Lupski

  • Primary immunodeficiency diseases

    Journal of Allergy and Clinical Immunology
    1. Asbjørg Stray-Pedersen
    2. Hanne Sørmo Sorte
    3. Pubudu Samarakoon
    4. Tomasz Gambin
    5. Ivan K. Chinn
    6. Zeynep H. Coban Akdemir
    7. Hans Christian Erichsen
    8. Lisa R. Forbes
    9. Shen Gu
    10. Bo Yuan
    11. Shalini N. Jhangiani
    12. Donna M. Muzny
    13. Olaug Kristin Rødningen
    14. Ying Sheng
    15. Sarah K. Nicholas
    16. Lenora M. Noroski
    17. Filiz O. Seeborg
    18. Carla M. Davis
    19. Debra L. Canter
    20. Emily M. Mace
    21. Timothy J. Vece
    22. Carl E. Allen
    23. Harshal A. Abhyankar
    24. Philip M. Boone
    25. Christine R. Beck
    26. Wojciech Wiszniewski
    27. Børre Fevang
    28. Pål Aukrust
    29. Geir E. Tjønnfjord
    30. Tobias Gedde-Dahl
    31. Henrik Hjorth-Hansen
    32. Ingunn Dybedal
    33. Ingvild Nordøy
    34. Silje F. Jørgensen
    35. Tore G. Abrahamsen
    36. Torstein Øverland
    37. Anne Grete Bechensteen
    38. Vegard Skogen
    39. Liv T.N. Osnes
    40. Mari Ann Kulseth
    41. Trine E. Prescott
    42. Cecilie F. Rustad
    43. Ketil R. Heimdal
    44. John W. Belmont
    45. Nicholas L. Rider
    46. Javier Chinen
    47. Tram N. Cao
    48. Eric A. Smith
    49. Maria Soledad Caldirola
    50. Liliana Bezrodnik
    51. Saul Oswaldo Lugo Reyes
    52. Francisco J. Espinosa Rosales
    53. Nina Denisse Guerrero-Cursaru
    54. Luis Alberto Pedroza
    55. Cecilia M. Poli
    56. Jose L. Franco
    57. Claudia M. Trujillo Vargas
    58. Juan Carlos Aldave Becerra
    59. Nicola Wright
    60. Thomas B. Issekutz
    61. Andrew C. Issekutz
    62. Jordan Abbott
    63. Jason W. Caldwell
    64. Diana K. Bayer
    65. Alice Y. Chan
    66. Alessandro Aiuti
    67. Caterina Cancrini
    68. Eva Holmberg
    69. Christina West
    70. Magnus Burstedt
    71. Ender Karaca
    72. Gözde Yesil
    73. Hasibe Artac
    74. Yavuz Bayram
    75. Mehmed Musa Atik
    76. Mohammad K. Eldomery
    77. Mohammad S. Ehlayel
    78. Stephen Jolles
    79. Berit Flatø
    80. Alison A. Bertuch
    81. I. Celine Hanson
    82. Victor W. Zhang
    83. Lee Jun Wong
    84. Jianhong Hu
    85. Magdalena Walkiewicz
    86. Yaping Yang
    87. Christine M. Eng
    88. Eric Boerwinkle
    89. Richard A. Gibbs
    90. William T. Shearer
    91. Robert Lyle
    92. Jordan S. Orange
    93. James R. Lupski

  • GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

    American Journal of Human Genetics
    1. Elisabeth M M. Lodder
    2. Pasquelena De Nittis
    3. Charlotte D D. Koopman
    4. Wojciech Wiszniewski
    5. Carolina Fischinger F. Moura de Souza
    6. Najim Lahrouchi
    7. Nicolas Guex
    8. Valerio Napolioni
    9. Federico Tessadori
    10. Leander Beekman
    11. Eline A A. Nannenberg
    12. Lamiae Boualla
    13. Nico A A. Blom
    14. Wim de Graaff
    15. Maarten Kamermans
    16. Dario Cocciadiferro
    17. Natascia Malerba
    18. Barbara Mandriani
    19. Zeynep Hande Coban H.C. Akdemir
    20. Richard J J. Fish
    21. Mohammad K K. Eldomery
    22. Ilham Ratbi
    23. Arthur A A.M. Wilde
    24. Teun de Boer
    25. William F F. Simonds
    26. Marguerite Neerman-Arbez
    27. V. Reid Sutton
    28. Fernando Kok
    29. James R R. Lupski
    30. Alexandre Reymond
    31. Connie R R. Bezzina
    32. Jeroen Bakkers
    33. Giuseppe Merla

  • Molecular diagnostic experience of whole-exome sequencing in adult patients

    Genetics in Medicine
    1. Jennifer E. Posey
    2. Jill A. Rosenfeld
    3. Regis A. James
    4. Matthew Bainbridge
    5. Zhiyv Niu
    6. Xia Wang
    7. Shweta Dhar
    8. Wojciech Wiszniewski
    9. Zeynep H.C. Akdemir
    10. Tomasz Gambin
    11. Fan Xia
    12. Richard E. Person
    13. Magdalena Walkiewicz
    14. Chad A. Shaw
    15. V. Reid Sutton
    16. Arthur L. Beaudet
    17. Donna Muzny
    18. Christine M. Eng
    19. Yaping Yang
    20. Richard A. Gibbs
    21. James R. Lupski
    22. Eric Boerwinkle
    23. Sharon E. Plon

  • PEHO syndrome may represent phenotypic expansion at the severe end of the early-onset encephalopathies

    Pediatric Neurology
    1. Pawel Gawlinski
    2. Renata Posmyk
    3. Tomasz Gambin
    4. Danuta Sielicka
    5. Monika Chorazy
    6. Beata Nowakowska
    7. Shalini N. Jhangiani
    8. Donna M. Muzny
    9. Monika Bekiesinska-Figatowska
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    6. M. Teresa de la Morena
    7. Ivan K. Chinn
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    9. Nancy J. Mendelsohn
    10. Tamara Pozos
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    12. Sarah K. Nicholas
    13. Anne B. Yates
    14. Lindsey E. Moore
    15. Knut Erik Berge
    16. Hanne Sorte
    17. Diana K. Bayer
    18. Daifulah ALZahrani
    19. Raif S. Geha
    20. Yanming Feng
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    4. Tamar Harel
    5. Zeynep H.C. Akdemir
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    10. Dirk Czesnik
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    6. Youbao Sha
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    13. Asbjørg Stray-Pedersen
    14. Mickie H. Cheng
    15. Emily M. Mace
    16. Mark S. Anderson
    17. Dongfang Liu
    18. Ling Fung Tang
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    20. Karen Nahmod
    21. George Makedonas
    22. Debra L. Canter
    23. Pui Yan Kwok
    24. John Hicks
    25. Kirk D. Jones
    26. Samantha Penney
    27. Shalini N. Jhangiani
    28. Michael D. Rosenblum
    29. Sharon D. Dell
    30. Michael R. Waterfield
    31. Feroz R. Papa
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    34. Suzanne M. Leal
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    3. Tomasz Gambin
    4. Maria Kousi
    5. Laurie B. Griffin
    6. Ludmila Francescatto
    7. Burcak Ozes
    8. Ender Karaca
    9. Shalini N. Jhangiani
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    11. Kim S. Lawson
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    13. Yuji Okamoto
    14. Marjorie Withers
    15. Pedro Mancias
    16. Anne Slavotinek
    17. Pamela J. Reitnauer
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    20. Thomas O. Crawford
    21. Michel Koenig
    22. Jason Willer
    23. Brittany N. Flores
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